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Boards Blitz Pediatric Dermatology

Kalyani Marathe, MD MPH Assistant Professor of Dermatology and

Pediatrics, GWU SOM

What most likely triggered this eruption?

A. Trimethoprim-Sulfamethoxazole

B. Compositae

C. Methylisothiazolinone

D. Crisaborole

E. Asthma inhaler

Periorificial dermatitis is usually triggered by steroids contacting the skin and some say it is a precursor to rosacea.

• Treatment:

– Topical calcineurin inhibitors

– Metronidazole cream/gel

– Oral antibiotics (erythromycin/azithromycin)

Hurwitz, 5th ed

Granulomatous periorificial dermatitis is a more inflammatory version and can resemble sarcoidosis or Blau.

Hurwitz, 5th ed

This child should be screened with which of the following tests?

A) Spinal Ultrasound

B) Genitourinary Ultrasound

C) Skin biopsy

D) A and B

E) All of the above

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LUMBAR syndrome

• Lower body congenital infantile hemangiomas and other skin defects

• Urogenital anomalies and ulceration

• Myelopathy

• Bony deformities

• Anorectal malformations/Arterial anomalies

• Rectal anomalies

Photo courtesy of A. Yasmine Kirkorian, MD

Workup for LUMBAR requires imaging studies for spinal dysraphism, and urinary abnormalities.

• At < 3 months – Spinal ultrasound

– Ultrasound with doppler- abdomen and pelvis

• 3-6 months – If midline lesion or abnormal ultrasound, MRI of spine

– If abnormal pelvic/renal ultrasound, urologic evaluation

– Monitor for limb length discrepancy with Orthopedics

Occult spinal dysraphism is most likely to be associated with:

A. Sacral dimple < 2.5 cm from anal verge

B. Lipoma with hemangioma over lower back

C. Hypertrichosis of sacrum

D. Nevus Simplex of sacrum

E. Port wine stain of sacrum

Occult Spinal Dysraphism can be diagnosed by ultrasound before age 3 months.

• Associated with – large sacral dimple (>5 mm), high on the back (>2.5 cm from anal

verge)

– > 2 lesions of any kind

– Lipoma

– Tail

– Dermal Sinus

– Hemangioma >2.5cm in midline lumbosacral region

Arch Dermatol. 2012 Aug 1;148(8):934. Pediatr Radiol. 2012 Mar;42(3):315-20. J Pediatr. 2010 Nov;157(5):789-94.

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This child’s skin reaction is from an attack on the same protein as which disease?

A. Pemphigus Vulgaris

B. Pemphigus Foliaceus

C. Pemphigoid Gestationis

D. Linear IgA Bullous Disease

E. Bullous Pemphigoid

Bullous Impetigo is usually localized but can be diffuse.

• Infection with staph > strep

• Systemic treatment in special populations or if very diffuse

• Mupirocin ointment and dilute bleach baths if localized

Staphylococcal exotoxin-A Phage group II

Attacks Desmoglein-1

Blisters, pustules, superficial erosions

FLI-1412-2DC-3N

Bullous impetigo usually affects face and intertriginous areas and does not cause systemic symtoms.

Exfoliative exotoxins are made by 5% of S. aureus strains.

• Toxins ETA and ETB

• Likely act as proteases that target desmoglein-1

• All phage groups are able to produce exfoliative toxin

Name that Target!!!!!

A. Epidermolysis Bullosa Acquisita

B. Pemphigus Foliaceus

C. Pemphigoid Gestationis

D. Linear IgA Bullous Disease

E. Bullous Pemphigoid

Name that Target!!!!!

A. Epidermolysis Bullosa Acquisita- Collagen VII

B. Pemphigus Foliaceus- Desmoglein 1

C. Pemphigoid Gestationis- BPAG2

D. Linear IgA Bullous Disease- LABD97 (97 kD NC domain of BPAG2)

E. Bullous Pemphigoid- BPAG2 > BPAG1

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What test should be checked on this child?

A. Calcium

B. TSH

C. Lipids

D. CBC with differential

E. Abdominal ultrasound

Subcutaneous Fat Necrosis of the Newborn more common in babies that have had cooling.

Monitor for elevated calcium, especially if the disease is extensive

Should monitor up to 6 months

No guidelines

What is the first test to order in this child?atal Lupus

A. CBC

B. EKG

C. Abdominal ultrasound

D.A. and B.

E. A, B, and C

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Neonatal Lupus

Neonatal Lupus • Ultraviolet light may exacerbate or initiate cutaneous lesions

• *Do bilirubin lights cause exacerbation? • No • Bilirubin lights = 420-470 nm (visible spectrum) • Ultraviolet light = 200-400 nm

• To mothers with SLE, or other CTD, HLA-DR3 • 50% mothers asymptomatic at delivery • Lesions usually resolve by 6 months without scarring • Dyspigmentation and telangiectasias can remain • “Ro makes the heart go slow”

50% of Neonatal lupus patients can have heart block

• Third degree most common- which is permanent

• Can also manifest with thrombocytopenia and liver disease

• Risk of second child with LE approx 25%

• Occasional U1RNP antibodies, which is not associated with heart block

What is the most appropriate treatment?

A. Ketoconazole shampoo

B. Ketoconazole cream

C. Griseofulvin 10mg/kg/day

D. Griseofulvin 20mg/kg/day

E. Terbinafine 250 mg daily

Feel for occipital and posterior cervical lymph nodes if you suspect tinea capitis.

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Tinea Capitis requires systemic treatment for 6-8 weeks.

• Griseofulvin Solution (microsize) 20-25mg/kg x 8 weeks OR at least 2 weeks past symptom resolution – Gris-Peg (ultramicrosize) is better absorbed but often not covered

• Terbinafine: FDA approved as sprinkles but these are typically not covered by insurance. Prescribe generic tablet with weight-based dosing and parents can crush: – <20kg: 62.5mg daily x 6 weeks – 20-40kg: 125mg daily x 6 weeks – 40kg: 250mg daily x 6 weeks

What neoplasm is this child most likely to develop in adulthood?

A. SCC

B. BCC

C. Trichoblastoma

D. Poroma

E. Trichoepithelioma

Nevus Sebaceus is a benign growth present at birth and experiences hormonal changes.

• Long term:

– Previously thought to develop basal cell carcinoma

– Now thought to be benign growths

– Trichoblastoma and Syringocystadenoma papilliferum both reported as most common

• Do not routinely need to be removed

J Am Acad Dermatol. 2014 Feb;70(2):332-7. J Dermatol. 2016 Feb;43(2):175-80.

Can you name the functions of these proteins?

Desmosome

Adherens Junction

Gap Junction

Tight Junction

Bind Actin Filaments

Intercellular Communication

“Barrier and Fence”

Keratinocyte Adhesion

A 4 year old child comes in for persistently scaly feet and palms You notice these findings. Upon closer examination, the mother’s feet look like this:

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Which of these are true of the pictured condition?

A. The oral leukokeratosis is premalignant

B. It is associated with left sided cardiomyopathy

C. It is due to a keratin mutation D. It has a woolly hair phenotype E. It is associated with trichorrhexis

invaginata

Pachyonychia Congenita is an autosomal dominant condition caused by keratin mutations.

Type I: Formerly Jadassohn-Lewandowsky – KRT16 mutation – Distinctive thickening of fingernails & toes (all 20)

• Pincer nails, onychogryphosis

– Follicular hyperkeratosis of elbows & knees – Oral leukokeratosis, not premalignant – PPK

Pachyonychia Congenita Type II: Formerly Jackson-Lawler

• KRT17 mutation • Resembles type 1 + natal teeth

& steatocystoma multiplex • No oral lesions, less severe PPK • PPK with hyperhidrosis • Folliculitis

Type III: Formerly Schafer-Branauer

• KRT 6A mutation • Type 1 without nail

involvement

Type IV: Pachyonychia Congenita tarda • KRT 6B mutation • May present later in life • Variable nail involvement

Let’s review the other answers:

A. The oral leukokeratosis is premalignant Dyskeratosis congenita

B. It is associated with left sided cardiomyopathy Carvajal syndrome

C. It is due to a keratin mutation D. It has a woolly hair phenotype

Carvajal and Naxos syndromes

E. It is associated with trichorrhexis invaginata Netherton’s syndrome

A child presenting with diffuse involvement of this finding should be evaluated for this:

A. Rothmund-Thomson syndrome

B. Angelman syndrome

C. Hurler syndrome

D. Naegeli–Franceschetti–Jadassohn syndrome

E. Cornelia de Lange syndrome

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Diffuse Dermal Melanocytosis can be a marker of metabolic diseases/mucopolysaccharidoses.

Associated with lysosomal storage disorders and mucopolysaccharidoses

Hurler>Hunter

Look for other cutaneous stigmata

• Coarse facies

• Thickened skin

• Excessive hair growth

• Pebbled skin on upper back

• Atherosclerotic changes of hands

Gupta D, Thappa DM. Mongolian spots. Indian J Dermatol Venereol Leprol 2013;79:469-78 Pediatr Dermatol. 2016 Nov;33(6):594-601.

X-linked dominant diseases: The CHICAGO Bulls Dominated because they had the MIDAS touch • Conradi Hunerman

• Incontinentia Pigmenti

• CHILD

• Albright’s hereditary osteodystrophy

• Goltz

• Oro-facial-digital Syndrome

• Bazex

• MIDAS

What would pathology show?

A. Acantholysis

B. Cornoid lamellae

C. Lichenoid infiltrate

D. Papillomatosis

E. Wedge-shaped infiltrate

Porokeratosis has several subtypes but is characterized by a thin threadlike border, on path: cornoid lamellae

• Porokeratosis of Mibelli

• DSAP

• Linear Porokeratosis

• Punctate

• Palmaris et Plantaris

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What is the most likely mutation in these patients?

A. ABCA12

B. LIPN

C. ALOXE3

D. TGM1

E. STI4

Lamellar Ichthyosis is caused by an AR mutation in TGM-1

• Transglutaminase 1

• Scarring alopecia, nail dystrophy

• Collodion baby at birth

• Ectropion is almost always present, eclabium

• Moderate hyperkeratosis of the palms and soles is usually present, hypohidrosis, heat intolerance

Which of the following is INCORRECT about the pictured condition?

A. There is a reduced number of disulfide bonds in hair shafts

B. Trichorrhexis nodosa is found

C. Serum IgE is markedly elevated

D. Intermittent aminoaciduria is uncommon

E. The gene encodes for LEKTI

Netherton Syndrome is an autosomal recessive condition with notable atopic features.

• SPINK5 gene encoding LEK1, serine protease inhibitor

• Ichthyosis linearis circumflexa

• Atopic dermatitis

• Trichorrhexis invaginata

• Pili torti, trichorrhexis nodosa

• Food allergies

The classic triad

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What test should be performed?

A. MRI brain and spine

B. Skin biopsy

C. Liver ultrasound

D. GU ultrasound

E. Limb length testing

Neurocutaneous melanosis is a potentially deadly condition when symptomatic

Risk factors:

• A large CMN, especially if >40 cm predicted final size and in a posterior axial location

• Multiple satellite nevi

• More than two medium-sized CMN (especially if numerous)

What is the most likely mutation? A. MITF

B. SNA12

C. C-KIT

D. PAX-3

E. SOX-10

Piebaldism is caused by an AD mutation is c-kit, and less commonly SNA12

• Can have heterochromia irides

• Epitheliomas

• Rarely Hirschsprung disease

• Rarely Deafness

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A previously healthy 5 year old boy presents with cough, crusted and fissured lips, and injected conjunctiva. You also note rare blisters on his trunk. He also has a cough. What is the treatment?

A. Oral Acyclovir B. Azithromycin C. VZV D. Supportive Care E. TPN

Mycoplasma-Induced Rash and Mucositis (MIRM)

Mycoplasma Induced Rash and Mucositis (MIRM) is a new term for an old condition

• Patients age on average 12

• Majority male

• Features of SJS

J Am Acad Dermatol. 2015 Feb;72(2):239-45.

Mycoplasma Induced Rash and Mucositis (MIRM) presents with primarily mucous membrane involvement

• Oral (94%), Ocular (82%), Urogenital (63%)

• Treatment:

• Antibiotics, systemic steroids, IVIG, supportive care

• Nutritional support

• 8% recurrence rate, 3% mortality

J Am Acad Dermatol. 2015 Feb;72(2):239-45.

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When this child reaches her 20’s, what is most likely to be her cause of death?

A. Sepsis

B. Esophageal rupture

C. Failure to thrive

D. SCC

E. Suicide

Recessive Dystrophic EB is caused by an autosomal recessive mutation in Col VII.

When fatal in first year, sepsis

Mitten deformity

Wound care

Nutrition/GI

UpToDate

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Vascular Anomalies

ISSVA Classification of Vascular Anomalies ©2014 International Society for the Study of Vascular Anomalies Available at "issva.org/classification"

Case 1

• 4-week-old female with a vascular anomaly. At birth, this was a faint patch.

Photo courtesy of A. Yasmine Kirkorian MD

Case 1: Vascular lesion thickened after birth

• Bright red vascular plaque with a cobblestone surface and ptosis of the left upper eyelid

• Diagnosis: Segmental infantile hemangioma

• Workup: R/O PHACE syndrome

PHACE(S) Syndrome

• Posterior fossa malformations

• Hemangioma (segmental)

• Arterial anomalies

• Cardiac anomalies/Coarctation of aorta

• Eye anomalies

• (Supraumbilical raphe/Sternal clefting)

Segmental hemangiomas follow neurovascular embryonic segments

Pediatrics. 2006 Mar;117(3):698-703.

PHACE(S) Syndrome

• Posterior fossa malformations: Dandy-Walker malformation • Hemangioma (segmental) • Arterial anomalies: Head and neck: stenosis, tortuosity,

aberrance • Cardiac anomalies/Coarctation of aorta: PDA, ASD, VSD,

Tetralogy of Fallot • Eye anomalies: Horner syndrome, retinal vascular

anomalies • (Supraumbilical raphe/Sternal clefting): Ventral midline

developmental defects

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Many thanks to neuroradiologist Dr. Jonathon Murnick

Photo courtesy of A. Yasmine Kirkorian, MD and Johnathan Murnick, MD

Photo courtesy of A. Yasmine Kirkorian, MD and Johnathan Murnick, MD

Workup for PHACE

• Neuroimaging

– MRI/MRA

• Echocardiogram

• Ophthalmologic evaluation

Hemangioma Treatment

Hemangioma Treatment Oral Propranolol is the only FDA approved treatment for infantile hemangiomas

• Infants > 5 weeks

• Uptitrate to 3.4 mg/kg/day in BID dosing

• Monitor for bradycardia, hypotension, hypoglycemia

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Case 2

4-week-old female with a vascular anomaly involving the left half of the face since birth

Photo, Bolognia 3rd ed.c

Case 2: Vascular patch involving the left hemi-face sharply demarcated at the midline

• Diagnosis:

– Capillary malformation (Port Wine Stain)

• Workup: R/O Sturge-Weber syndrome

Photo, Bolognia 3rd ed.c

Sturge-Weber Syndrome if 2/3 of these findings:

• Facial capillary malformation (CM) involving the forehead/upper eyelid

• Brain involvement (Leptomeningeal angiomatosis) – Seizures

– Hemiparesis/hemiplegia, developmental delays

• Ocular involvement

SWS no longer thought to be in V1 distribution, but neurovascular segment

Br J Dermatol. 2014 Oct;171(4):861-7.

What somatic mutation causes SWS and Port Wine Birthmarks?

A. RASA1

B. GNAS

C. BRAF

D. C-kit

E. GNAQ

N Engl J Med. 2013 May 23;368(21):1971-9.

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Workup for Sturge-Weber Syndrome

• Ophthalmology referral at birth

– Follow up regularly, as glaucoma may not become evident until childhood

• Pediatric Neurology referral

– MRI if symptomatic

What test will most likely be positive?

A. Enteroviral PCR

B. Mycoplasma IgM

C. HSV PCR

D. VZV PCR

E. Candida swab

Eczema Coxsackieum can look similar to eczema herpeticum and is often caused by unusual strains of coxsackie

Pediatr Dermatol. 2016 May;33(3):e230-1. Pediatrics. 2013 Jul;132(1):e149-57.

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What most likely preceded this nail finding?

Thank you!

• kmarathe@childrensnational.org