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色素失禁症或布洛赫-苏尔茨贝格综合征:一种罕见的X连锁遗传性皮肤病。

Incontinentia pigmenti or Bloch-Sulzberger syndrome: a rare X-linked genodermatosis.

作者信息

Marques Gabriela Franco, Tonello Claudio Sampieri, Sousa Juliana Martins Prazeres

机构信息

Instituto Lauro de Souza Lima, Bauru, SP, Brazil.

出版信息

An Bras Dermatol. 2014 May-Jun;89(3):486-9. doi: 10.1590/abd1806-4841.20143043.

Abstract

Incontinentia pigmenti is a rare X-linked genodermatosis that affects mainly female neonates. The first manifestation occurs in the early neonatal period and progresses through four stages: vesicular, verruciform, hyperpigmented and hypopigmented. Clinical features also manifest themselves through changes in the teeth, eyes, hair, central nervous system, bone structures, skeletal musculature and immune system. The authors report the case of a patient with cutaneous lesions and histological findings that are compatible with the vesicular stage, emphasizing the importance of early diagnosis and appropriate therapeutic management.

摘要

色素失禁症是一种罕见的X连锁遗传性皮肤病,主要影响女性新生儿。首发表现出现在新生儿早期,并经历四个阶段:水疱期、疣状期、色素沉着期和色素减退期。临床特征还通过牙齿、眼睛、毛发、中枢神经系统、骨骼结构、骨骼肌系统和免疫系统的变化表现出来。作者报告了一例皮肤病变和组织学表现与水疱期相符的患者病例,强调了早期诊断和适当治疗管理的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cee8/4056709/76fdebc64948/abd-89-03-0486-g01.jpg

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