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 multi...

Full description

Saved in:
Bibliographic Details
Published in:Pediatric dermatology 2021-01, Vol.38 (1), p.191-193
Main Authors: Morgado, Francisca, Batista, Mariana, Moreno, Ana, Coutinho, Inês
Format: Article
Language:English
Subjects:
Ataxia
Bone marrow
Brain Neoplasms
Calcinosis
Case reports
Central Nervous System Cysts
Child
Congenital diseases
Cysts
Dyskeratosis
Dyskeratosis Congenita - complications
Dyskeratosis Congenita - diagnosis
Dyskeratosis Congenita - genetics
Female
Fractures
genetic diseases
genodermatoses
Hepatitis
Humans
Hyperpigmentation
Leukoencephalopathies - diagnosis
Leukoencephalopathies - genetics
Leukokeratosis
Long bone
mechanisms
Muscle Spasticity
Osteopenia
Pediatrics
Rare diseases
Retinal Diseases
Retinopathy
Seizures
Telomeres
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0736-8046
1525-1470
DOI:10.1111/pde.14366