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12 Cards in this Set
- Front
- Back
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Clinical Hypomelanosis of Ito
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Synonym
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Incontinentia Pigmenti Achromians
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Inheritance
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Not inherited; chromosomal or single gene mosaicism
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Prenatal
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None
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Incidence
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Rare; all races; M=F
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Age at Presentation
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Birth to 1 year old
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Pathogenesis
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The cutaneous phenotype reflects many different forms of genomic mosaicism
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Clinical
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Skin
Unilateral and bilateral whirled marble cake hypopigmentation in Blaschko's Hair Alopecia Associated Findings (seen in 75% of cases); Central Nervous System Seizures, mental and motor retardation Eyes Strabismus, hypertelorism Musculoskeletal Scoliosis, limb length discrepancy Teeth Anodontia, dental dysplasia |
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D/Dx
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Nevus depigmentosus Tuberous sclerosis (p. 88) Incontinentia pigmenti (p. 72) Segmental vitiligo
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Lab
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None
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Management
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Complete physical examination by primary care physician Referral to subspecialist if symptomatic Camouflage cosmetics Hypopigmentation may fade with time
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Prognosis
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normal life span
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