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CASE PRESENTATION

CASE PRESENTATION. KAREN ESTRELLA PGY-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: ok

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CASE PRESENTATION

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  1. CASE PRESENTATION KAREN ESTRELLA PGY-1 JAN/2010

  2. 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: ok Neonatal screening: neg

  3. 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

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

  5. Physical exam:

  6. Consult: DERMATOLOGY • Skin type: IV (light brown skin) 1975

  7. Description of lesions: Blaschkoidhypopigmented reticulated macules and patches that don’t cross midline What means Blaschkoid? Blaschkoid refers to normally invisible lines in the skin that are believed to trace the migration of embryonic 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

  8. Differential Diagnosis

  9. Pigmentary disorders • Hypomelanosis of Ito • Nevus depigmentus • Nevoid hypermelanosis • X-linked genetic skin disorders • Incontinentiapigmenti • CHILD syndrome • Acquired inflammatory skin rashes • Lichen striatus • Lichen planus

  10. Hypomelanosis of Ito • Linear, patchy or whorl-like hypopigmentedmacules 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

  11. 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%).

  12. Diagnosis Based on HPI and PE Histopathology (skin bx) Decreased amount of melanocytes in affected areas, chromosomal anomalies in fibroblasts

  13. 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)

  14. 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

  15. 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.

  16. Nevus depigmentus: • Circumscribed lesions (hypopigmented) since birth, with no systemic associations

  17. Incontinencia pigmenti • Cutaneous lesions undergo 3 steps: • Vesicles: 1st 2 wks of life in flexor areas of limps • Pustular: 2-6wks later, turn kerotic • More distal and dorsal • Hypopigmented: 12-36 wks (melanin in dermis) • X-linked (deletion of IKBVG) • Associated with: • alopecia, hypodontia, retinal detachment and mental retardation

  18. Stage 1 Stage 3

  19. Prognosis • Normal life-spam • Good, depends if associated with other systems • Consider genetic counselling

  20. CHILD Syndrome Congenital Hemidysplasia (viscera) Icthyosiform erythroderma (scaling plaques in folds) Limb Defects.

  21. Lichen Planus: Immune response Pruritic, violaceous papules Striatum: Vesicles, self-limited,

  22. 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

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

  24. Follow-up

  25. Dermatology terms to review: • Macule: <1.5cm, smooth, discoloration • Patch:

  26. Papule: <1cm, palpable • Plaque:

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