Coats plus syndrome (cerebroretinal microangiopathy with calcifications and cysts‐1): A case report

Autor: Ana Foulquié Moreno, Inês Coutinho, Mariana Batista, Francisca Morgado
Rok vydání: 2020
Předmět:
Zdroj: Pediatric Dermatology. 38:191-193
ISSN: 1525-1470
0736-8046
DOI: 10.1111/pde.14366
Popis: We present a 6-year-old girl with skin hyperpigmentation, leukoplakia, and onychodystrophy, the classic mucocutaneous triad usually associated with dyskeratosis congenita. The patient also had premature graying of the hair, bone marrow failure, hepatitis, exudative retinopathy, osteopenia with multiple long bone fractures, and intracranial calcifications and brain cysts. Coats plus syndrome is a rare disease with a clinical and genetic overlap with dyskeratosis congenita. This disease is reviewed, with a focus on the pathogenesis of the genetic anomalies and its background as a telomere biology disorder.
Databáze: OpenAIRE
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