Coats plus syndrome (cerebroretinal microangiopathy with calcifications and cysts‐1): A case report
Autor: | Ana Foulquié Moreno, Inês Coutinho, Mariana Batista, Francisca Morgado |
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Rok vydání: | 2020 |
Předmět: |
medicine.medical_specialty
business.industry Mucocutaneous zone Bone marrow failure Dermatology medicine.disease 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine 030220 oncology & carcinogenesis Skin hyperpigmentation Pediatrics Perinatology and Child Health Onychodystrophy medicine Cerebroretinal microangiopathy with calcifications and cysts business Dyskeratosis congenita Leukoplakia Rare disease |
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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