CASE PRESENTATION

KAREN ESTRELLAPGY-1

JAN/2010

CASE

• 4mo F comes for WCC• PMHX:

BIRTH HX: FT, C/S sec to fetal bradycardia and maternal preeclampsia, Apgar 9-9• Bwt: 1850 gr, Lt:44.5cm, HC: 31 cm

– SGA = 28wks• Serology neg, • Admitted to NICU for 13 days

Hearing: okNeonatal screening: neg

• Feeding: soy milk, appropriate stooling, urination and sleep patterns.

• Vaccines: UTD• Development: recognizes mother, lifts head,

follows objects,• Lives with mother and sister in shelter

Mom noticed:

• White lesions in abdomen, that have spread towards right abdomen right chest and axillary region.

Physical exam:

Consult: DERMATOLOGY

• Skin type: IV (light brown skin)

1975

Description of lesions:

Blaschkoid hypopigmented reticulated macules and patches that don’t cross midline

What means Blaschkoid?Blaschkoid refers to normally invisible lines in theskin that are believed to trace the migration ofembryonic cells (mesodermal and ectodermal precursors) after X activation or inactivation. (Alfred

Blaschko, 1901)– These lines do not correlate with nervous, lymphatic

or muscular systems– Genetic mosaicism

Differential Diagnosis

• Pigmentary disorders– Hypomelanosis of Ito– Nevus depigmentus– Nevoid hypermelanosis

• X-linked genetic skin disorders– Incontinentia pigmenti– CHILD syndrome

• Acquired inflammatory skin rashes– Lichen striatus– Lichen planus

Hypomelanosis of Ito• Linear, patchy or whorl-like hypopigmented

macules occurring on any part of the body along the Blaschko lines (described in 1952 by Ito)

• Scalp, palm, soles are not affected• Lesions first appear as small 0.5-1 cm that merge

to form larger patches • Macules cover more than two dermatome• Unilateral or BL but show midline cutoff • Patches are not symmetrical • Not preceded by vesicles or papules

• Related to chromosomal mosaicism in 9q33-qter, 15q11-q13, and Xp11.– It is not inherited, due to mutation occurs

postconception

• It is 1.2-2.5x more frequent in females• Data indicate: 1 in 7000 outpatient visits.• Present since birth (54%) and by 1 yr (70%).

DiagnosisBased on HPI and PE

Histopathology (skin bx)Decreased amount of melanocytes in affected

areas, chromosomal anomalies in fibroblasts

Associations• None (50%)• CNS (76%)– Seizures (TC), mental retardation, develomental

delay, autism, deafness, hypotonia– Hemi-megalencephaly, agenesis of the corpus

callosum, focal cerebral vascular abnormalities, and rarely tumors (medulloblastoma, choroid plexus papilloma)

• Ocular (50%)– Retinal pigment abnormalities, cataracts,

microphtalmia, pupillary atrophy, nystagmus

• Musculoskeletal– Hemihypertrophy ((ipsi), syndactily,

• Dysmorphism (20%)– Cleft palate, nail –teeth abnormalities (anodontia),

bifid uvula, delayed fontanelle closure,

• Cardiac– ASD, VSD

• Abdominal: umbilical hernias, glomerulosclerosis

Other pathologies for differential• Nevoid

hypermelanosis:– Similar skin

characteristics to HI (streaked or whorl-like lesions) but not associated with systemic features.

– Appear in infancy and later spread to rest of body.

Nevus depigmentus:

• Circumscribed lesions (hypopigmented) since birth, with no systemic associations

Incontinencia pigmenti

• Cutaneous lesions undergo 3 steps:

1. Vesicles: 1st 2 wks of life in flexor areas of limps

2. Pustular: 2-6wks later, turn kerotic – More distal and dorsal

3. Hypopigmented: 12-36 wks (melanin in dermis)

• X-linked (deletion of IKBVG)

• Associated with:– alopecia, hypodontia,

retinal detachment and mental retardation

• Stage 1 Stage 3

Prognosis

• Normal life-spam• Good, depends if associated with other

systems • Consider genetic counselling

CHILD Syndrome

CongenitalHemidysplasia(viscera)Icthyosiform

erythroderma (scaling plaques in folds)Limb Defects.

LichenPlanus: Immune responsePruritic, violaceous papules

Striatum: Vesicles, self-limited,

Our patient

• At approx imately 1 mo of age: had an episode of stiffness in 4 extremities x 30 sec , no shaking, no cyanosis, + apnea– Seen at NY Presbiterian, where Neurology did EEG

and CT scan which where normal– Evaluated by cardiology for “ skipping heart beats”

CXR and EKG normal

Consult: NEUROLOGY

• Borderline microcephaly (P3)• Tone mildly increased, no clonus, • F/U in 3months, if persists: MRI

Follow-up

Dermatology terms to review:

• Macule: <1.5cm, smooth, discoloration

• Patch:

• Papule: <1cm, palpable • Plaque: