Coats plus syndrome (cerebroretinal microangiopathy with calcifications and cysts-1): A case report.
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.
['Morgado|Francisca|F|https://orcid.org/0000-0001-5006-4334', 'Batista|Mariana|M|https://orcid.org/0000-0003-3442-615X', 'Moreno|Ana|A|', 'Coutinho|Inês|I|']
D001259:Ataxia D001932:Brain Neoplasms D002114:Calcinosis D020863:Central Nervous System Cysts D002648:Child D003560:Cysts D019871:Dyskeratosis Congenita D005260:Female D006801:Humans D056784:Leukoencephalopathies D009128:Muscle Spasticity D012164:Retinal Diseases D012640:Seizures
genetic diseases genodermatoses mechanisms