Coats plus syndrome (cerebroretinal microangiopathy with calcifications and cysts‐1): A case report. Issue 1 (3rd October 2020)

• Record Type: Journal Article
• Authors: Morgado, Francisca; Batista, Mariana; Moreno, Ana; Coutinho, Inês
• Is Part Of: Pediatric dermatology. Volume 38:Issue 1(2021)
• Page Start: 191
• Page End: 193
• Publication Date: 2020-10-03
• Subjects: genetic diseases -- genodermatoses -- mechanisms; Pediatric dermatology -- Periodicals; Children -- Diseases -- Periodicals; 618.925
• DOI: 10.1111/pde.14366
• Languages: English
• ISSNs: 0736-8046

Abstract

Abstract: 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.