Incontinentia pigmenti or Bloch-Sulzberger syndrome: a rare X-linked genodermatosis
| Autor: | Gabriela Franco Marques, Cláudio Sampieri Tonello, Juliana Martins Prazeres Sousa |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
Pathology
medicine.medical_specialty Skin Diseases Vesiculobullous Pigmentation disorders Genodermatosis Infant Genetic Diseases X-Linked Case Report Dermatology Early neonatal period Incontinentia pigmenti Biology medicine.disease Rare Diseases RL1-803 Bloch-Sulzberger syndrome medicine Skeletal musculature Humans Female sense organs Pigmentation disorder Bone structure |
| Zdroj: | Anais Brasileiros de Dermatologia Anais Brasileiros de Dermatologia, Vol 89, Iss 3, Pp 486-489 (2014) |
| ISSN: | 0365-0596 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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