incontinentia pigmenti with neurologic and oculodental disorders

Clicks: 137
ID: 140176
2016
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Abstract
Incontinentia pigmenti is a genodermatosis with X-linked dominant inheritance, characterized by cutaneous, neurologic, ophthalmologic, and dental abnormalities with a pattern suggestive of somatic mosaicism. We describe a 21-month-old girl showing characteristic cutaneous findings of incontinentia pigmenti in chronic evolution of hyperpigmented, hypopigmented, and atrophic stages, linear and whorled pattern involving the Blaschko's lines. The patient has history of seizures, and electroencephalography showed epileptiform discharges at temporal lobule, cranial magnetic resonance imaging revealed cerebral dysgenesis, neuronal migration disorder, and hypoplasia of the corpus callosum. She has motor and mental delay with spastic quadriplegia, and ophthalmologic loss of central vision by ischemic optic neuropathy with decreased blood flow to eye's optic nerve. The dermatologic features were confirmed by skin biopsy that showed slight atrophy and some scattered apoptotic cells in the epidermis, epidermal hypopigmentation, and reduced melanocyte number, these histological features confirmed the genodermatosis diagnosis: Bloch-Sulzberger syndrome.
Reference Key
fierro2016indianincontinentia Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;Jorge Arturo Avina Fierro;Daniel A Hernandez Avina
Journal gender, place and culture
Year 2016
DOI
10.4103/2319-7250.173154
URL
http://www.ijpd.in/article.asp?issn=2319-7250;year=2016;volume=17;issue=1;spage=24;epage=26;aulast=Fierro
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