Pediatric Dermatology1) A full term newborn develops erythematous, indurated plaques on the upper back. Which of the following tests should be performed?

A. Thyroid function test

B. CalciumCorrect Choice

C. Blood culture

D. Complete blood count

E. Alkaline phosphatase

The most likely diagnosis is subcutaneous fat necrosis of the newborn. Hypercalcemia may result and serum calcium levels should be monitored up to 4 weeks after resolution of the skin

2) What is the most common tumor associated with this condition?

A. Trichoadenoma

B. Trichoblastoma Correct Choice

C. Syringocystadenoma papilliferum

D. Basal cell carcinoma

E. Sebaceous carcinoma

Recent reviews have identified trichoblastoma as the most common tumor arising within nevus sebaceous

3) Which finding is associated with Pachydermoperiostosis:

A. Mucosal keratoses

B. Cutis marmorata

C. Cutis verticis gyrataCorrect Choice

D. Palmoplantar hyperkeratosis

E. Osteopathia striata

The scalp change seen in pachydermoperiostosis is cutis verticis gyrata

4) An infant presents with the lesion depicted in the photo. What information do you provide the parents regarding this condition?

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A. The lesion will persist and may grow further Correct Choice

B. The lesion is associated with a XO karyotype

C. The lesion will respond to laser therapy

D. The lesion will go through rapid growth followed by stabilization and regression

E. The lesion will resolve with antifungal therapy

The lesion represented in the photo is an arteriovenous vascular malformation. These lesions do not typically regress

5) Which of the following is most likely associated?

A. No additional abnormalityCorrect Choice

B. Deafness

C. Bifid rib

D. Alopecia

E. Coarctation of the aorta

The majority of patients with accessory tragii do not have any associated abnormalities. Multiple anomalies, including deafness and midline defects, have been reported but are rareTrichothiodystrophy classically includes which of the following findings:

A. Trichorrhexis nodosa

B. Pili torti

C. Trichostasis

D. TrichoschisisCorrect Choice

E. Trichorrhexis invaginata

Trichothiodystrophy or PIBIDS is associated with the “tiger-tail” abnormality of trichoschisis

7) A 3 month-old girl with multiple hemangiomas along her right jaw is at increased risk for:

A. Subglottic hemangiomaCorrect Choice

B. Hearing defecits

C. Underlying bone abnormalities

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D. Bleeding complications

E. Oral obstruction

Hemangiomas are benign vascular tumors which have proliferating phase and then a spontaneous involution phase. Depending upon the location, some hemangiomas may have more long term sequelae such as scarring or structural malformation, and rarely, consumptive coagulopathy. Infants with hemangiomas of the “beard” distribution should be evaluated for subglottic hemangiomas which may lead to airway obstructionA 3 month-old girl with multiple hemangiomas along her right jaw is at increased risk for:

A. Subglottic hemangiomaCorrect Choice

B. Hearing defecits

C. Underlying bone abnormalities

D. Bleeding complications

E. Oral obstruction

Hemangiomas are benign vascular tumors which have proliferating phase and then a spontaneous involution phase. Depending upon the location, some hemangiomas may have more long term sequelae such as scarring or structural malformation, and rarely, consumptive coagulopathy. Infants with hemangiomas of the “beard” distribution should be evaluated for subglottic hemangiomas which may lead to airway obstruction

8) In a child with zinc deficiency, yet normal or near normal zinc levels, which test could be a valuable adjunctive test?

A. Niacin

B. Iron

C. Alkaline phosphataseCorrect Choice

D. Magnesium

E. Manganese

The diagnosis of zinc deficiency should be consideredi in at-risk individuals with acral or periorificial dermatitis. Chronic diaper dermatitis in an infant should lead to the evaluation for zinc deficiency. A low serum zinc level can usually confirm the diagnosis. If normal or near normal a low serum alkaline phosphatase, a zinc-dependent enzyme, may be a valuable adjunctive test

9) Posterior auricular adenopathy is a common feature of which exanthem:

A. Rubella Correct Choice

B. Scarlet fever

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C. Measles

D. Erythema infectiosum

E. Mumps

Lymphadenopathy with 1-7 days of malaise is commonly described with rubella infection. The rose-pink macular rash follows the prodrome

10) What is best the test to confirm a diagnosis?

A. Anti Ro antibody

B. Biopsy

C. Gram stain

D. KOHCorrect Choice

E. NA antibody

The picture depicts tinea faceii. A KOH exam should be performed to look for hyphae

11) What is the diagnosis?

A. Neonatal cphalic pustulosisCorrect Choice

B. Transient neonatal pustular melanosis

C. Erythema toxicum neonatorum

D. Acropustulosis of infancy

E. Miliaria

In neonatal cephalic pustulosis (neonatal acne), papules and pustules are present but comedones are absent. Spontaneous remission occurs

12) Which of the following is a potential complication of subcutaneous fat necrosis of the newborn?

A. Cholestrol clefts in fat cells

B. Acute renal failure

C. Hepatitis

D. HypercalcemiaCorrect Choice

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E. Elevated uric acid levels

Subcutaneous fat necrosis of the newborn is a rare condition characterized by firm, reddish or purple nodules which appear on the arms, thighs, buttocks, back and cheeks. This condition is believed to result from cold injury. Crystallization occurs within the lipocytes, and this can be seen on histopathology with an associated granulomatous reaction. This is thought to occur due to the higher melting point of neonatal fat, which contains more saturated fatty acids. Onset of this condition occurs within the first two weeks of life and usually resolved over a period of weeks to months. Occasionally, lesions heal with atrophy. Hypercalcemia is an infrequent complication of subcutaneous fat necrosis of the newborn. Associated symptoms can include irritability, weight loss, vomiting and failure to thrive. Repeated serum calcium tests are advised until one month after all the cutaneous lesions have resolved

13) What is the most appropriate management of this condition?

A. Observation Correct Choice

B. Pulsed dye laser

C. Embolization

D. Oral corticosteroids

E. MRI

This V-shaped vascular lesion is nevus flammeus neonatorum. Most lesions will fade over time without intervention

14) An infant with failure to thrive has multiple xanthomas on skin exam and foamy histiocytes on bone marrow biopsy. Your diagnosis is:

A. Niemann-Pick diseaseCorrect Choice

B. Fabry’s disease

C. Tay-Sach’s disease

D. Hunter’s syndrome

E. Gaucher’s disease

Niemann-Pick disease is an autosomal recessive disease caused by mutations in sphingomyelin phosphodiesterase-1. Patients with Type A Niemann-Pick disease may have xanthomas, progressive psychomotor deterioration, hepatosplenomegaly, blindness, cherry red spots, and deafness

15) An infant presents with yellowish-brown, crusted papules with petechiae in a seborrheic distribution. Which of the following statements about this entity is likely to be true?

A. Maternal-fetal transmission most likely occured in the peripartum period

B. This presentation occurs when the infant is weaned off of breast milk

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C. CD1+, S100+ cells with comma-shaped nuclei should be seen on biopsyCorrect Choice

D. An autosomal recessive defect in holocarboxylase synthetase is the cause

E. This presentation is consistent with Jacquet's dermatitis

This infant has Langerhans Cell Histiocytosis (Letterer-Siwe disease). Multisystem involvement may be present. Jacquet's Erosive Dermatitis presents with severe erosive papules in the diaper region, and is multifactorial in etiology (yeast, irritant dermatitis, moisture). Acrodermatitis enteropathica (zinc deficiency) presents with brown, orange crusted plaques with vesicles and bullae, especially in perineal and perioral areas and distal extremities. The inherited form occurs when the infant is weaned off of breast milk. Biotin deficiency presents similarly; the neonatal form is attributed to an AR defect in holocarboxylase synthetase

16) What is the best therapeutic option?

A. Topical mupirocin

B. Oral prednisone

C. Topical immune modulator

D. Oral cephalexin

E. Oral acyclovirCorrect Choice

The condition shown in an example of eczema herpeticum, also called Kaposi varicelliform eruption. It occurs when pre-existing dermatitis becomes superinfected with a viral infection, most commonly atopic herpes infection of atopic dermatitis. The initial treatment of choice is antiviral medications

17) Multiple cylindromas are associated with:

A. Trichoepitheliomas Correct Choice

B. Cowden syndrome

C. Pilomatrichomas

D. Carney complex

E. Myotonic dystrophy

The Brooke-Spigler syndrome is defined by the presence of multiple trichoepitheliomas and cylindromas

18) This condition may be associated with which of the following:

A. Perinatal trauma

B. Hyperlipidemia

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C. Hypercalcemia

D. Epidermolysis bullosa dystrophica Correct Choice

E. Vitiligo

Aplasia cutis congenita may be associated with dystrophic epidermolysis bullosa (Bart syndrome

19) Neutrophils are characteristically seen on smears from pustules of which of the following transient benign neonatal rashes?

A. Acne neonatorum

B. Erythema toxicum neonatorum

C. Acne neonatorum and transient neonatal pustular melanosisCorrect Choice

D. Infantile acne

E. Transient neonatal pustular melanosis

Neutrophils are seen on smears from pustules of acne neonatorum and transient neonatal pustular melanosis. Eosinophils are characteristically seen on smears from erythema toxicum neonatorum

20) Which of the following is characteristic of Wooly Hair Nevus:

A. Ocular abnormalities may be associated

B. Sponteneous improvement never occurs

C. Typically occurs in the 5th decade

D. There are no nevi associated with this hair abnormality

E. It is hereditaryCorrect Choice

Wooly Hair Nevus is the presence of Negroid hair on the scalp of persons of non-Negroid inheritance. The unruly hair presents at birth or in infancy, usually as a solitary problem inherited in an autosomal dominant fashion

21) What is the best treatment option?

A. Topical tretinoinCorrect Choice

B. Oral acyclovir

C. Topical ketoconazole

D. Observation

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E. Oral cephalexin

The lesions shown in the photo are comedones of infantile acne. Topical tretinoin would be the best treatment option

22) Which of the following can present as collodion baby?

A. X-linked ichthyosis

B. Bullous congenital ichthyosiform erythroderma

C. Sjogren-Larsson syndrome

D. Lamellar ichthyosisCorrect Choice

E. Ichthyosis vulgaris

The most common presentation of collodion baby is lamellar ichthyosis, followed by congenital ichthyosiform erythroderma. Patients with ichthyosis vulgaris and x-linked ichthyosis are normal at birth. Bullous congenital ichthyosiform erythroderma or epidermolytic hyperkeratosis presents with widespread bullae, erthroderma, and denuded skin. Sjogren-Larsson presents with generalized ichthyosis and erythroderma in infancy. It is important to know the at-birth presentations of all the disorders of cornification

23) A 2 day-old full term neonate develops blotchy erythematous macules with small central pustules over the upper trunk and extremities. A gram stain reveals predominantly eosinophils. What is the most likely diagnosis?

A. Incontinentia pigmenti

B. Erythema toxicum neonatorum Correct Choice

C. Urticaria pigmentosa

D. Transient neonatal pustular melanosis

E. Miliaria

Erythema toxicum neonatorum is a very common eruption in healthy newborns. A gram stain reveals sterile pustules containing eosinophils

24) An eight year-old boy presents with pink, flushed cheeks and a low-grade fever. The following eruption then appeared. What is the most likely etiology?

A. Paramyxovirus

B. Togavirus

C. Parvovirus Correct Choice

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D. HHV6

E. Group A streptococcus

This condition, also called Fifths Disease or erythema infectiosum, is caused by parvovirus B19, a single-stranded DNA virus. There are a few clinical presentations including, diffuse lacy rash on the trunk that spreads gradually toward the distal extremities, papular-pruritic "gloves-and-socks" syndrome and aplastic crisis which does not have concomitant rash

25) What is the best test to confirm a diagnosis?

A. Gram stain

B. KOH Correct Choice

C. Biopsy

D. Anti Ro antibody

E. DsDNA antibody

The picture depicts tinea faceii. A KOH exam should be performed to look for hyphae

26) Which presentation of psoriasis is more common in children:

A. Acrodermatitis continua of Hallopeau

B. Guttate psoriasisCorrect Choice

C. Keratoderma blennorragica

D. Pustular psoriasis

E. Erythrodermic psoriasis

The majority of cases of guttate psoriasis occur in persons under the age of 30

27) This patient had significantly elevated serum CPK. The likely diagnosis is:

A. Dermatomyositis Correct Choice

B. Lupus erythematosus

C. Atopic dermatitis

D. Psoriasis

E. Lichen planus

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The answer is dermatomyositis with the heliotrope color and distribution of erythema or violaceous color. The skin over the metacarpal and proximal interphalangeal joints can become inflamed and erythematous forming Gottron’s papules

28) Menkes kinky hair syndrome is associated most commonly with:

A. Trichorrhexsis invaginata

B. Pili torti Correct Choice

C. Pili multigemini

D. Plica neuropathica

E. Trichostasis spinulosa

The X-linked recessive Menkes kinky hair syndrome is associated with multiple hair shaft abnormalities, most characteristically, pili torti

29) What disorder is associated with a defect in LMX1B?

A. Lhermitte-Duclos syndrome

B. Chediak-Higashi syndrome

C. Steatocystoma

D. Nail patella syndrome Correct Choice

E. Monilithrix

A LMX1G gene defect is associated with nail patella syndrome

30) Schimmelpenning-Feuerstein-Mims syndrome may be associated with which of the following:

A. Hypophosphatemic ricketsCorrect Choice

B. Polyostotic fibrous dysplasia

C. Osteopathia striata

D. Chondrodysplasia punctata

E. Osteopokilosis

Epidermal nevus syndrome, also known as Schimmelpenning-Feuerstein-Mims syndrome, may be associated with hypophospatemic, vitamin D resistant rickets

31) Variants of xeroderma pigmentosum are due to all of the following defects except:

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A. Endonuclease

B. Helicase

C. Thymidine kinase Correct Choice

D. Postrepliction repair

E. Nucleotide excision repair

The photosensitivity of xeroderma pigmentosum is caused by defect in DNA repair mechanisms. Thymidine kinase is not affected

32) “Slapped cheeks” followed by a lacy eruption on extremities:

A. ssRNA virus

B. dsDNA virus

C. ssDNA virus Correct Choice

D. Streptococcus

E. dsRNA virus

The erythematous eruption on the cheeks precedes the generalized lacy rash of Fifth disease. The causative agent is parvovirus B19, a single stranded DNA virus

33) Ankyloblepharon filiforme adnatum is seen with a defect in:

A. p63 Correct Choice

B. Plakophilin

C. Desmoglein

D. C-kit

E. Plakoglobin

The ectodermal-clefting syndromes are caused by a defect in the p63 gene. Specifically, AEC or Hay-Wells syndrome is comprised of ankyloblepharon filiforme adnatum, ectodermal dysplasia and clefting

34) Pachyonychia congenita type 2 is most commonly associated with which of the following:

A. Deafness

B. Aplastic nails

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C. Increased risk of malignancy

D. Natal teethCorrect Choice

E. Poikiloderma

Pachyonychia congenita type 2 may be associated with natal teeth and steatocystoma. Pachyonychia congenita type 1 is associated with benign leukoplakia

35) The risk of fetal death with intrauterine parvovirus infection may occur with infection in which trimester:

A. First

B. Third

C. Second

D. First, Second and Third Correct Choice

E. None of these answers are correct

Fetal hydrops may occur with parvovirus infection during all three trimesters although the greatest risk is during the second trimester. Congenital anomalies are not a feature

36) Individuals with which of the following syndromes characteristically present with photosensitivity, mental retardation, a "wizened" appearance, "bird-headed" facies, and "Mickey Mouse" ears?

A. Rothmund-Thomson Syndrome

B. Werner Syndrome

C. Tay Syndrome

D. Cockayne SyndromeCorrect Choice

E. Hutchinson-Gilford Progeria Syndrome

Cockayne Syndrome is AR, caused by defective excision repair, cross-complementing group 8 gene (ERCC8). It presents with photosensitivity, mental retardation, and cachectic dwarfism. Patients have a characteristic "wizened" appearance, "bird-headed" facies, and "Mickey Mouse" ears. Cataracts, deafness, pigmentary retinopathy, dental caries, and skeletal, GU, and endocrine abnormalities may be seen

37) What is the most common tumor associated with this condition?

A. Sebaceous carcinoma

B. Trichoadenoma

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C. Trichoblastoma Correct Choice

D. Basal cell carcinoma

E. Syringocystadenoma papilliferum

Recent reviews have identified trichoblastoma as the most common tumor arising within nevus sebaceous

38) What the most likely diagnosis?

A. Wiskott-Aldrich syndrome

B. Atopic dermatitis Correct Choice

C. Rud syndrome

D. Lamellar ichthyosis

E. Keratosis pilaris

Ichythosis vulgaris and hyperlinear palms are both independent minor criteria for the diagnosis of atopic dermatitis in both children and infants

39) A boy is noted at birth to have coarse scales over his trunk and extremities. The face, palms, soles and flexures are spared. What is the least likely association?

A. Ectropion Correct Choice

B. Corneal opacities

C. Cryptorchidism

D. Neurologic abnormality

E. Prolonged maternal labor

X-linked ichthyosis is characterized by small, dark, firmly adherent scales accentuated on the sides of the neck and trunk. The face, palms, soles, antecubital and popliteal flexures are generally spared. Associated extracutaneous findings include corneal opacities (50%), undescended testes (20%), and prolonged maternal labor (usual). Neurological or mental retardation are rare but documented associations as XLI can be associated with a contiguous gene syndrome with Kallman syndrome, mental retardation and X linked recessive chrondrodysplasia punctata

40) Which of the following is not a major criterion for Kawasaki’s disease:

A. Palmoplantar erythema > desquamation

B. Cardiac aneurysm Correct Choice

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C. Fever >5 days

D. Strawberry tongue/ red lips

E. Cervical adenopathy

Cardiac aneurysm is a serious complication of Kawasaki’s disease. However, as the cardiovascular manifestations generally present 1 –5 months after presentation, they are not criteria for diagnosis

41) Koplik spots typically appear:

A. At the same time as the exanthem

B. 1 week after the exanthem

C. 8 weeks after the exanthem

D. 6 weeks after the exanthem

E. Before the exanthem Correct Choice

The enanthem of measles precedes the morbilliform eruption.

42) Pastia’s lines are characteristic for which eruption:

A. Kawasaki’s disease

B. Scarlet fever Correct Choice

C. Rubella

D. Mumps

E. Measles

Pastia’s lines are defined as a linear accentuation of the erythematous sandpaper rash within the flexures. This is classically described with scarlet fever

43) Which enanthem is most commonly seen in association with Exanthem subitum?

A. Koplik spots

B. Red strawberry tongue

C. Red macules and streaks on the soft palateCorrect Choice

D. Palatal erosions

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E. Chapped lips; dry, red mucosa

Exanthem subitum (roseola or Sixth disease) is caused by HHV6, a dsDNA virus. It presents with high fever for several days followed by an exanthem of erythematous macules and papules on the trunk that begins as the fever ends. An associated enanthem of red macules/streaks on the soft palate may be seen. Koplik spots are seen in measles; the red strawberry tongue (following the white strawberry tongue) is seen in Scarlet fever; chapped lips and dry, red mucosa may be seen in Kawasaki's disease; palatal erosions may be seen in Papular-purpuric gloves and socks syndrome

44) An 8 year-old boy presents with pink, flushed cheeks and a low-grade fever. On week later, the following lacy eruption appeared. What is the most likely etiology?

A. Togavirus

B. HHV6

C. Group A streptococcus

D. Paramyxovirus

E. Parvovirus Correct Choice

Fifth disease is caused by Parvovirus B19. Most cases start with prodrome of fever, malaise, headache and rhinorrhea. Cutaneous reaction follows approximately 5-7 days later with erythema of the cheeks ("slapped cheeks") and reticulate rash of the trunk and extremities

45) An infant presents with red-purple, granulomatous nodules occurring in the diaper area. The etiology is secondary to local irritation, maceration and Candida albicans. What is the most likely diagnosis?

A. Langerhans cell histiocytosisc.

B. Biotin deficiency

C. Seborrheic dermatitis

D. Psoriasis

E. Granuloma gluteale infantum Correct Choice

The etiology of granuloma gluteale infantum is multifactorial, resulting from the unique environment of the diaper area. Treatment consists of topical antifungal agents, barrier creams, and anti-inflammatory agents as needed

46) The Carney complex is associated with a defect in:

A. LYST

B. PTEN

C. PRKAR1A Correct Choice

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D. MASH2

E. MLH1

A PRKAR1A gene defect is associated with the Carney complex

47) What syndrome is the disorder shown in the photo associated with?

A. Noonan syndrome Correct Choice

B. Bloom syndrome

C. Turner syndrome

D. Down syndrome

E. Griscelli syndrome

The photo shows keratosis pilaris atrophicans faceii and surgically corrected ptosis. Both of these findings are associated with Noonan syndrome

48) A 6 month-old presents with orange-brown crusted plaques around the mouth and groin. Several bullae are present on the fingers and toes. Which of the following laboratory values is likely to be abnormal?

A. Calcium

B. Hematocrit

C. Alkaline phosphatase Correct Choice

D. Platelet count

E. ALT

The most likely diagnosis is acrodermatitis enteropathica. Alkaline phosphatase is a zinc dependant enzyme that is decreased in response to low serum zinc levels

49) Which of the following should be the next step in the management of this patient?

A. spine x-ray

B. Administration of oral antibiotics

C. Cardiac evaluationCorrect Choice

D. Barium swallow

E. Pulmonary function studies

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This patient must be evaluated thoroughly for PHACES syndrome. PHACES is an acronym for Posterior fossa malformations (Dandy-Walker malformation is most common), Hemangiomas, Arterial anomalies, Coarctation of the aorta, Eye abnormalities, and Sternal cleft defects. This patient should have a complete cardiac evaluation, neuroimaging, and ophthalmologic exam. If the facial hemangioma involves the beard area, this may indicate laryngeal involvement and appropriate imaging and evaluation is mandated. Systemic steroids at high doses (5 mg/kg) are usually administered. If caught early, the sequelae of PHACES syndrome can be minimized

50) The association of Port-wine stains on a limb with soft tissue swelling with or without bony over growth is:

A. Sturge-Weber syndrome

B. Goldenhar's syndrome

C. Klippel-Trenaunay syndromeCorrect Choice

D. Bannayan-Riley-Ruvalcaba syndrome

E. Proteous syndrome

The association of port-wine stain on a limb with soft tissue swelling with or without bony overgrowth is Klippel-Trenuanay syndrome. Klippel-Trenaunay syndrome is characterized by the Triad of port-wine malformations in association with deep venous system malformations, superficial varicosities, and bony and soft tissue hypertrophy. Sturge-Weber syndrome has 2 essential components: Facial port-wine stain and homolateral leptomeningeal angiiomattosis. The port wine stain most commonly involves the areas innervated by the ophthalmic(V1) and maxillary (V2) divisions of the trigeminal nerve. Complications of leptomeningeal angiomatosis are epilepsy, mental retardation, and occasionally, contralateral hemiplegia. Proteus Syndrome is characterized by vascular malformations including nevus flammeus, hemihypertrophy, macrodactyly, verrucous epidermal nevus, soft-tissue subcutaneous masses, and cerebriform overgrowth of the plantar surface. Babbyan-Riley-Ruvalcaba syndrome may include multiple cutaneous and visceral venous, capillary, and lympathtic malformations, macroephaly, pseudopapilledema, systemic lipoangiomatosis, spotted pigmentation of the penis, hamartomatous intestinal polyps, and rarely trichilemmonmas. (multiple subcutaneous lipomas as well as acanthosis nigricans).

51) The most common age group for papular-purpuric gloves and socks syndrome is:

A. Newborns

B. 6-10 year olds

C. Toddlers

D. Adolescents Correct Choice

E. Elderly

This unique presentation of parvovirus infection typically occurs in adolescents and young adults

52) What is the most likely diagnosis?

A. Traction alopecia

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B. Nevus sebaceous

C. Alopecia areata

D. Tinea capitis

E. Aplasia cutis congenita Correct Choice

Aplasia cutis congenita is characterized by the absence of a portion of skin, most commonly presenting as a solitary defect on the scalp, but sometimes it may occur as multiple lesions. The lesions are non-inflammatory and well demarcated appear as an atrophic, membranous, ulcerated area with alopecia. The condition may be associated with other physical anomlies

53) POEMS syndrome is associated with which of the following:

A. M proteinCorrect Choice

B. Odontogenic cysts

C. Saddle nose deformity

D. Premature aging

E. Eye abnormalities

The acronym POEMS stands for polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes

54) Osteopathia striata is found in which disorder?

A. Gorlin's syndrome

B. Neurofibromatosis I

C. McCune-Albright syndrome

D. Buschke-Ollendorff syndrome

E. Focal dermal hypoplasiaCorrect Choice

Osteopathia striata (vertical striations in the metaphysis of long bones on x-ray) is seen is greater than 80% of cases of focal dermal hypoplasia (or Goltz syndrome). Polyostotic fibrous dysplasia with recurrent fractures is seen in McCune-Albright syndrome. Sphenoid wing dysplasia and thinning of long bone cortex is found in neurofibromatosis I. Osteopoikilosis is an asymptomatic x-ray finding in patients with Buschke-Ollendorf syndrome. Osteopoikilosis reflects ectopic calcification that does not increase risk of fracture. Bifid ribs, vertebral fusion/Sprengel deformity of the spine, and kyphoscoliosis can be seen in basal cell nevus syndrome (Gorlin's syndrome).

55) Which of the following is a ssDNA virus:

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A. Parvovirus Correct Choice

B. Parapox

C. Herpesvirus

D. Picornovirus

E. Adenovirus

Parvovirus is the only ssDNA virus listed

56) Which treatment choice would be contraindicated in a one-year old child who presnents with monomorphous, nonpruritic flat-topped papules on the face, buttocks, extremities, palms and soles?

A. Observation

B. Aspirin

C. CorticosteroidsCorrect Choice

D. Acetaminophen

E. Hydration

Gianotti-Crosti or papular acrodermatitis of childhood is associated with a variety of viral infections. Patients have a typical cutaneous manifestation, low-grade fever, mild lymphadenopathy and diarrhea. Corticosteroids should be avoidedas they may have an adverse effect

57) The standard of care of patients with acute Kawasaki’s disease is:

A. Supportive care

B. Aspirin and IVIGCorrect Choice

C. Penicillin

D. Acetaminophen and IVIG

E. Prednisone

Kawasaki disease, also called mucocutaneous lymph node syndrome, is an acute febrile disorder based on the clinical criteria of changes in peripheral extremities, polymorphous exanthema, conjunctival injection without exudates, changes in the lips or oral cavity, acute cervical lymphadenopathy. Fever must be present, lasting more than 5 days. Treatment is aimed to prevent coronary aneurysms and myocardial infarction. Treatment for acute Kawasaki disease is intravenous immunoglobulin 2 g/kg over 10-12 hours and aspirin therapy

58) A newborn has a nodule over his lumbar spine. Skin biopsy reveals a lipoma. The next appropriate step is:

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A. Genetic testing

B. Observation

C. Imaging studyCorrect Choice

D. Malignancy work up

E. Excision of the lesion

The skin can provide an important clue to the presence of an underlying neural tube defect, such as meningomyelocele and encephalocele. Cutaneous lesions along the midline of the spine should always prompt consideration of this possibility. Although, midline neural tube defects are uncommon, early recognition and diagnosis of a spinal dysraphism can have important implications for early surgical correction and minimizing loss of neurologic function. Clues to the diagnosis include a midline dimple, tuft of hair, lipoma, or vascular lesion. In these instances, imaging studies (MRI, CT, ultrasound) should be promptly initiated

59) An infant presents with the lesion depicted in the photo. Which of the following is least likely?

A. Dandy-Walker malformation

B. Congenital cataracts

C. Sternal clefting

D. Supraumbilical raphe

E. Seizure disorder Correct Choice

Extensive facial hemangiomas are a component of the PHACES syndrome. Seizure disorder has not been described

60) A 24 month-old infant presents with yellowish-brown, crusted papules with petechiae in a seborrheic distribution. A biopsy is done to confirm a diagnosis. Which histologic picture is most likely?

A. CD1-, S100- cells with reniform nuclei

B. Mixed cellular infiltrate in a “ball and claw” pattern

C. Foamy histiocytes with Touton giant cells

D. Superficial perivascular infiltrate with mild spongiosis and neutrophil containing scale crust

E. CD1+, S100+ cells with reniform nuclei Correct Choice

Langerhans cells are CD1 and S100 positive. The nuclei are described as kidney shaped, or reniform

61) What is the function of the gene which is defective in ataxia-telangiectasia?

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A. Pathway of cholesterol biosynthesis

B. Cross-linking of structural proteins in the protein and lipid envelope of the upper epidermis

C. Gap junction protein

D. DNA repair proteinCorrect Choice

E. Tumor supressor protein

The defective gene is ataxia-telangiectasia (Louis-Bar syndrome) is the ATM gene, which is responsible for DNA repair, especially after ionizing radiation. Tumor suppressor genes mutations are responsible for basal cell nevus syndrome, xeroderma pigmentosum, Muir-Torre syndrome, dyskeratosis congenital, Gardner syndrome, Peutz-Jeghers syndrome, Cowden syndrome, and MEN syndromes. Connexins are gap junction proteins that are responsible for intercellular communication and signaling. Mutations in connexins are responsible for Vohwinkel syndrome and erythrokeratoderma variabilis. Mutations in the cholesterol biosynthesis pathways cause CHILD syndrome and Conradi-Hunermann syndrome. Tranglutaminase 1 (TGM 1) is involved in the normal cross-linking of structural proteins in the protein and lipid envelope of the upper epidermis. TGM 1 is mutated in lamellar ichthyosis and congenital ichthyosiform erythroderma

62) What is the diagnosis?

A. Rubella

B. Contact dermatitis

C. Unilateral laterothoracic exanthem Correct Choice

D. Urticaria

E. Roseola

The child in the photo depicts the “Statue of Liberty” sign of unilateral laterothoracic exanthem

63) The most appropriate treatment of a 2 month-old with a hemangioma involving the lateral canthus is:

A. Observation and reassurance of the parents

B. Pulsed dye laser

C. Surgical excision

D. Interferon-alpha

E. Systemic corticosteroidsCorrect Choice

Since hemangiomas characteristically follow a course of proliferation followed by spontaneous involution, many of the lesions can be followed with conservative management including observation. However, indications for treatment of hemangiomas include obstruction of vital function, high-output cardiac failure, ulceration, infection, diaper area location and location on the

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face. Aggressive treatment is indicated for a hemangioma located on the lateral canthus since two of the above indications apply. Importantly, obstruction of the visual field may impair development of the visual cortex in an infant. Oral glucocorticoids are the mainstay of treatment for hemangiomas, with 30 to 60% of lesions responsive to therapy. Alternative treatments for problematic hemangiomas include intralesional steroids, interferon alpha-2a, and pulsed dye laser

64) Neonatal acne is associated with species of which organism:

A. Streptococcus

B. Candida

C. MalasseziaCorrect Choice

D. Staphylococcus

E. Propionibacterium

Acne which develops within the first 30 days of life is termed neonatal acne. Neonatal acne has a predilection for the face, chest, back and groin appearing as small, discrete papules at 2 to 4 weeks of age, and persisting for up to 8 months. As these lesions are self-resolving, no treatment is necessary, though 2.5% benzoyl peroxide may hasten resolution. Neonatal acne is quite common and is postulated to occur as a result of hyperplasia of premature sebaceous glands coupled with transient increases in circulating androgens. More recent data suggests that Malassezia species may be implicated at etiologic factors in neonatal acne. These organisms have been cultured from the skin of affected patients, though their exact role in unclear

65) What is the most likely diagnosis?

A. Cutaneous T-cell lymphoma

B. Psoriasis

C. Contact dermatitisCorrect Choice

D. Lichen planus

E. Pityriasis rosea

This periumbilical eruption is classic for a contact nickel allergy. The metal snaps on pants are the cause in this case

66) What is the best therapeutic option?

A. Oral cephalexin

B. Oral prednisone

C. Oral acyclovir Correct Choice

D. Topical mupirocin

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E. Topical immune modulator

The condition shown is eczema herpeticum. The most appropriate treatment is oral acyclovir

67) The most likely etiology of Jacquet’s diaper dermatitis is:

A. Multifactorial Correct Choice

B. Candida

C. Trichophyton rubrum

D. Herpes simplex virus, Type 2

E. Group A beta-hemolytic streptococcus

Jacquet’s diaper dermatitis is a multifactorial process. Yeast, irritants and moisture all contribute to the occurrence of this eruption

68) The causative agent of Roseola is:

A. A dsRNA virus

B. A ssDNA virus

C. Streptococcus

D. A dsDNA virus Correct Choice

E. A ssRNA virus

Roseola is caused by Human Herpesvirus 6, a double stranded DNA virus

69) Which of the following is the most common complication associated with cutis marmorata telangectatica congenita?

A. Systemic lupus erythematosus

B. Hypercalcemia

C. Limb hypertrophy or atrophy Correct Choice

D. Atrial septal defect

E. Seizure disorder

Hypertrophy or atrophy of the affected limb is the most likely consequence of cutis marmorata telangectatica congenita. Orthopedic evaluation should be a part of the patient’s routine management

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70) Which of the following may be associated?

A. Atrial septal defect

B. AVM

C. Paronychia

D. Seizure disorder Correct Choice

E. Cleft palate

Nevus sebaceus can very rarely be associated with multiple anomalies. Schimmelpenning syndrome can include seizure disorder, mental retardation, coloboma, as well as skeletal, cardiac and genitourinary abnormalities

71) A 4 month-old with difuse blisters and erosions has a skin biopsy diagnostic of generalized mastocytosis. Which topical dressing should be avoided in this patient?

A. Petrolatum

B. Mupirocin ointment

C. Polymyxin B ointmentCorrect Choice

D. Neomycin ointment

E. Silver sulfadiazine

Mastocytosis compromises a group of diseases characterized by increased number of mast cells in the skin and other organs. Seventy-five percent of cases occur before the age of 2. Patients with mastocytosis should avoid potential mast degranulators including aspirin, codeine, opiates, procaine, spicy foods, cheese, alcohol, polymyxin B.

72) A neonate presents with a large segmental hemangioma of the V1 distribution. What are features may be associated with this finding?

A. Posterior fossa defectCorrect Choice

B. Tram-track calcifications

C. Muscular dystrophy

D. M-paraproteinemia

E. Anterior fossa defect

PHACES syndrome consists of posterior fossa defect, hemangiomas (often segmental and large), arterial defects, cardiac defects, eye abnormaliteis, and sternal clefting. Posterior fossa defects include the Dandy-Walker malformtion

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73) Late onset subungual keratotic tumors are associated with:

A. Basal cell nevus syndrome

B. Incontinentia pigmenti Correct Choice

C. Neurofibromatosis Type 1

D. Cowden syndrome

E. Carney complex

A NEMO gene defect can cause subungual keratotic growths. The typical age of presentation is early adulthood

74) A 2 week-old infant is brought to the ER with a rash on her face. She is found to have a 3rd degree heart block. What is the risk that a second child born to this mother will have the same diagnosis?

A. 100%

B. 10%

C. 25%Correct Choice

D. 5%

E. 50%

The diagnosis here is neonatal lupus erythematosus. Babies are normal at birth and develop skin lesions within the few months of life. About half of these babies will have an associated congenital heart block, usually 3rd degree, which is permanent. Most infants with NLE are girls and are born to mothers who are Ro/La positive. There is a 25% chance that a second child with have NLE

75) A newborn presents with a well-defined, shiny patch with complete alopecia on the vertex of the scalp along the suture lines. Which of the following is the first step in diagnosis?

A. Calcium

B. Skin biopsy

C. Fungal culture

D. MRI

E. Skull x-ray Correct Choice

The newborn most likely has aplasia cutis congenita. A skull x-ray would be the simplest, most cost effective means of identifying any underlying bony abnormality

76) Multiple lesions are associated with a defect in:

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A. Patched

B. Ras

C. Beta-catenin Correct Choice

D. NEMO

E. PTEN

The bluish cystic nodule on the face of this boy is a pilomatrichoma. A defect in beta-catenin has been implicated

77) Which of the following disorders is more likely to occur in children with chronic fecal incontinence?

A. Seborrheic dermatitis

B. Perianal streptococcal disease

C. Perianal pseudoverrucous papules and nodules Correct Choice

D. Granuloma gluteale infantum

E. Langerhans cell histiocytosis

The warty papules of perianal pseudoverrucous papules and nodules are seen more commonly in the setting of chronic fecal incontinence

78) All four subtypes of Phakomatosis Pigmentovascularis have which feature in common:

A. Nevus spilus

B. Nevus anemicus

C. Epidermal nevi

D. Nevus flammeusCorrect Choice

E. Dermal Melanocytosis.

Phakomatosis Pigmentovascularis: Patients with a combination of vascular malformations and melanocytic or epidermal nevi are grouped into 4 subtypes of this disorder. All have nevus flammeus/capillary malformation (CM).

Type I: CM + epidermal nevusType II: CM + dermal melanocytosis +/- nevus anemicusType III: CM + nevus spilus +/- nevus anemicusType IV: CM + dermal melanocytosis + nevus spilus +/- nevus anemicus

79) The disorder caused by a defect in intestinal zinc-specific transporter SLC39A4 is most likely to present:

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A. At birth

B. In adulthood

C. Upon weaning from breast milk Correct Choice

D. In childhood

E. Upon weaning from formula

In acrodermatitis enteropathica, there is decreased absorption of zinc from the infant’s gastrointestinal tract. The zinc in breast milk has greater availability than nonmaternal sources thus protecting the child from disease expression until weaning

80) The lesion depicted is most often associated with:

A. Polyostotic fibrous dysplasia Correct Choice

B. Chondrodysplasia punctata

C. Cleft palate

D. Osteopoikilosis

E. Sphenoid wing hypoplasia

The “coast of Maine” café au lait macule is associated with McCune-Albright syndrome and polyostotic fibrous dysplasia

81) What is the most likely diagnosis?

A. German measles

B. Letterer-Siwe disease

C. Mucocutaneous lymph node syndrome

D. Exanthem subitum

E. Papular acrodermatitis of childhoodCorrect Choice

Gianotti-Crosti syndrome is also known as papular acrodermatitis of childhood. The eruption is characterized by lichenoid papules in an acral distribution

82) A full term neonate is noted to have small pustules with no underlying erythema present at delivery. The pustules are easily removed with clearing of the vernix and a collarette appears. A gram stain is done showing predominately neutrophils without bacteria. What is the most likely diagnosis?

A. Miliaria

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B. Transient neonatal pustular melanosis Correct Choice

C. Urticaria pigmentosa

D. Erythema toxicum neonatorum

E. Congenital candidiasis

Transient neonatal pustular melanosis typically begins with sterile pustules that leave a characteristic collarette when ruptured. The lesions heal with hyperpigmented macules

83) What is the most likely diagnosis:

A. Facticial dermatosis

B. Epidermolysis bullosa simplex Correct Choice

C. Linear bullous IgA disease

D. Epidermolysis bullosa dystrophica

E. Pemphigus vulgaris

The bullous lesions represented are nonscarring and are associated with obvious nail dystrophy. Epidermolysis bullosa simplex, Dowling-Meara type, is the best option

84) Which of the following diseases with immunodeficiency has an increased risk of lymphoreticular malignancy?

A. Chronic granulomatous disease

B. Severe combined immunodeficiency syndrome

C. Leiner’s disease

D. Wiskott-Aldrich syndromeCorrect Choice

E. Job syndrome

Wiskott-Aldrich syndrome is an X-linked recessive disorder caused by mutations in WAS gene. Patients with Wiskott-Aldrich have atopic dermatitis with increased risks for secondary infection, thrombocytopenia, and recurrent bacterial infections. They are also at an increased risk for lymphoreticular malignancy (20%

85) Which of the following is the most common long term sequelae from congenital rubella syndrome?

A. Nystagmus

B. Macrocephaly

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C. Microcephaly

D. Deafness Correct Choice

E. Saber shins

Deafness may occur in up to 50% of infants with congenital rubella syndrome

86) Rhinorrhea, condylomata lata, and mucous patches are all seen with which congenital disorder?

A. Human papillomavirus infection

B. Herpes simplex virus

C. Rubella

D. Toxoplasmosis

E. Syphilis Correct Choice

Signs of congenital syphilis include rhinorrhea, snuffles, rhagades, condylomata lata, and mucous patches. Condylomata lata or a generalized papulosquamous eruption of secondary syphilis may be present in diaper area

87) What is the most likely diagnosis?

A. Langerhans cell histiocytosis

B. Perianal streptococcal disease Correct Choice

C. Granuloma gluteale infantum

D. Psoriasis

E. Contact dermatitis

The bright red erythema of perianal streptococcal disease can also involve the creases of the groin and axillae

88) What is the most likely diagnosis?

A. Bullous pemphigoid of infancy

B. Herpes zoster

C. Epidermolysis bullosa simplex

D. Incontinentia pigmenti Correct Choice

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E. Disseminated herpes simplex

The vesicular lesions following the lines of Blaschko are typical for incontinentia pigmenti

89) Which of the following is most likely associated?

A. No additional abnormality Correct Choice

B. Alopecia

C. Deafness

D. Bifid rib

E. Coarctation of the aorta

The majority of patients with accessory tragii do not have any associated abnormalities. Multiple anomalies, including deafness and midline defects, have been reported but are rare

90) What is the most likely diagnosis?

A. Seborrheic dermatitis

B. Langerhans cell histiocytosis

C. Psoriasis Correct Choice

D. Perianal streptococcal disease

E. Contact dermatitis

The well-defined erythematous plaque is an example of psorisis in the diaper area. The moist nature of the diaper environment results in a loss of the classic silvery scale

91) A healthy, full-term infant develops a pustular, erythematous eruption on her face and trunk on the third day of life. A smear taken from one of these pustules would show:

A. Predominantly neutrophils

B. Predominantly eosinophilsCorrect Choice

C. Gram-positive bacteria

D. Hyphae

E. Multi-nucleated giant cells

This baby has developed erythema toxicum neonatorum, a benign, self-limited eruption that occurs in the majority of healthy, full-term infants. Erythema toxicum usually develops on the second or third day of life and resolves by day 10. A smear taken from one of the pustules will demonstrate eosinophils, which is sufficient to make the diagnosis. Viral infections of the skin may demonstrate

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multi-nucleated giant cells on Tzanck smear. Transient neonatal pustular melanosis is present at birth; neonates present with small, superficial pustules that rupture easily. Some may have ruptured in utero, leaving pigmented macules. The pigmentation may persist for weeks to months in darkly-complexed infants. A smear of the intracorneal/subcorneal pustule will show mostly neutrophils, but eosinophils may also be present

92) Which of the following clinical signs is most likely associated?

A. Alopecia

B. Hypertrichosis

C. Clitoral hypertrophy Correct Choice

D. Neurofibromas

E. Axillary freckling

The “coast of Maine” café au lait macule is associated with McCune-Albright syndrome. Endocrine abnormalities, including precocious puberty and polyostotic fibrous dysplasia are associated features. The genetic mutation which results in this genodermatosis is due to a post-somatic mutaion in the alpha sub-unit of stimulatory G-protein

93) A newborn infant presents with ring of long, dark, coarse hair surrounding a midline scalp patch of alopecia. What is associated with this finding?

A. Thyroid disease

B. Alopecia areata

C. Ectopic brain tissueCorrect Choice

D. Deafness

E. Nevus sebaceus of Jadassohn

The "hair collar sign" is associated with ectopic brain tissue and is thought to arise from a congenital herniation through the skull. Caution must be used in evaluation as biopsy or needle aspiration may lead to retrograde infection

94) What deficiency is responsible for this condition?

A. Vitamin A

B. Thiamine

C. Vitamin C

D. ZincCorrect Choice

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E. Niacin

Acrodermatitis enteropathica is a rare inherited disorder transmitted in an autosomal recessive fashion. The disorder is caused by an inability to absorb zinc. the clinical syndrome is characterized by acral dermatitis, alopecia, and diarrhea. Zinc deficiency from other causes (including chronic wasting, poor oral intake, lack of supplementation in total parenteral nutrition) can cause similar clinical changes

95) The genetic disorder depicted in this photo is caused by a mutation in:

A. STK11 Correct Choice

B. Patched

C. TSC1

D. PTEN

E. MASH2

The multiple labial lentigo seen on this young boy are seen with Peutz-Jegher syndrome. A defect in the STK11 gene is responsible

96) A 2 year-old has a high fever for three days, as the fever breaks, a generalized rash appears on the trunk. The most likely diagnosis is:

A. Rubella

B. Erythema infectiosum

C. Measles

D. Roseola Correct Choice

E. Mumps

Roseola typically appears in toddlers. A high fever followed by a generalized maculopapular rash is characteristic for this HHV6 infection

97) What is the most likely neoplasm associated with this lesion?

A. Keratoacanthoma

B. Syringocystadenoma papilliferumCorrect Choice

C. Clear cell acanthoma

D. Basal cell carcinoma

E. Pilomatricoma

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Nevus sebaceus is usually a solitary lesion that presents at birth or shortly after. It usually has a characteristic yellow or yellow brown color with a verrucous surface. Syringocystadenoma papilliferum is the most common neoplasm associated with nevus sebaceous

98) What is the most likely diagnosis is this 16 year old patient who developed generalized eruption 2 weeks after onset of sore throat due to strep infection?

A. Lichen planus

B. Cutaneous T-cell lymphoma

C. Pityriasis rosea

D. Psoriasis Correct Choice

E. Contact dermatitis

Although the exact mechanism is not known, there is a well-known correlation between a history of upper respiratory infection secondary to group A beta-hemolytic streptococci and the subsequent development of guttate psoriasis. The eruption may resolve spontaneously or with treatment (topical steroids or ultraviolet therapy). Some portion of these patients eventually develop chronic, plaque-type psoriasis

99) Psammomatous melanotic schwannomas are associated with:

A. Tuberous sclerosis

B. Neurofibromatosis Type 2

C. Bloom syndrome

D. Carney complex Correct Choice

E. Neurofibromatosis Type 1

Psammomatous melanotic schwannomas have been described in the Carney complex, a defect in the tumor suppressor gene, PRKAR1A

100) Rapp-Hodgkin is caused by a defect in the following gene:

A. Ectodysplasin A

B. P63Correct Choice

C. Desmoglein 1

D. Plakophilin

E. Connexin 30

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Rapp-Hodgkin, along with the other ectodermal dysplasia-clefting syndromes, is reportedly caused by a defect in the p63 gene

101) The differential diagnosis of zinc deficiency is least likely to include:

A. Cystic fibrosis

B. Holocarboxylase synthetase deficiency

C. Biotin deficiency

D. Granuloma gluteale infantum Correct Choice

E. Multiple carboxylase deficiency

All of the options result in an eczematous acrodermatitis enteropathica-like eruption except granuloma gluteale infantum. As the name suggests, the lesions of granuloma gluteale infantum are granulomatous

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