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Incontinentia pigmenti or Bloch-Sulzberger syndrome: a rare X-linked genodermatosis
Authors:Gabriela Franco Marques  Claudio Sampieri Tonello  Juliana Martins Prazeres Sousa
Affiliation:Instituto Lauro de Souza Lima (ILSL) - Bauru (SP), Brazil.
Abstract:Incontinentia pigmenti is a rare X-linked genodermatosis that affects mainlyfemale neonates. The first manifestation occurs in the early neonatal period andprogresses through four stages: vesicular, verruciform, hyperpigmented andhypopigmented. Clinical features also manifest themselves through changes in theteeth, eyes, hair, central nervous system, bone structures, skeletal musculatureand immune system. The authors report the case of a patient with cutaneouslesions and histological findings that are compatible with the vesicular stage,emphasizing the importance of early diagnosis and appropriate therapeuticmanagement.
Keywords:Genetic diseases, X-linked   Incontinentia pigmenti   Pigmentation disorders
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