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12 Cards in this Set
- Front
- Back
Clinical Incontinentia Pigmenti
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Synonym
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Bloch-Sulzberger Syndrome
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Inheritance
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X linked dominant; rare male survivors thought to have Klinefelter syndrome; NEMO gene on Xq28
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Prenatal
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DNA analysis if gene known in family
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Incidence
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Over 700 cases reported; 97% female
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Age at Presentation
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Birth to first few weeks of life
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Pathogenesis
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Mutation in NEMO (NF KB essential modulator) gene leads to defective NF KB activation (80% have identical mutation secondary to gene rearrangement in paternal meiosis). NF KB is a transcription factor essential for several inflammatory, immune and apoptotic pathways
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Clinical
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Skin
Stage I Vesicular (birth to I to 2 weeks): vesicles and bullae in a linear arrangement on extremities, trunk, and scalp; erythernatous macules and papules Stage 11 Verrucous (2 to 6 weeks): streaks of hyperkeratotic papules, pustules, and papules on extremities Stage III Hyperpigmentation (3 to 6 months): whorls and swirls of hyperpigmentation along Blaschko's lines Stage IV Hypopigmentation (second to third decade): hypopigmented whorls and swirls replacing hyperpigmentation; with/without follicular atrophy Hair Scarring alopecia (30%) Nails Dystrophic changes (5% to 10%) Teeth Anodontia, peg/conical teeth (66%); deciduous and permanent affected Eyes (25% to 35%) Strabismus, cataracts, optic atrophy, retinal vascular changes with secondary blind ness, retrolental mass Central Nervous System (30%) Seizures, mental retardation, spastic paralysis |
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D/Dx
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Neonate Epidermolysis bullosa (p. 200) Impetigo Herpes simplex virus Epidermolytic hyperkeratosis (p. 6) Congenital syphilis Childhood Hypomelanosis of Ito
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Lab
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Skin biopsy in vesicular stage abundant eosinophils Complete blood count peripheral eosinophilia in infancy
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Management
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Referral to dermatologist diagnosis, topical care Referral to dentist at 1 year old Referral to ophthalmologist at time of diagnosis Referral to neurologist if symptomatic
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Prognosis
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Normal life span
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