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

Pediatr Dermatol. 2021 Jan;38(1):191-193. doi: 10.1111/pde.14366. Epub 2020 Oct 3.


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.

Keywords: genetic diseases; genodermatoses; mechanisms.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Ataxia
  • Brain Neoplasms*
  • Calcinosis
  • Central Nervous System Cysts*
  • Child
  • Cysts*
  • Dyskeratosis Congenita* / complications
  • Dyskeratosis Congenita* / diagnosis
  • Dyskeratosis Congenita* / genetics
  • Female
  • Humans
  • Leukoencephalopathies* / diagnosis
  • Leukoencephalopathies* / genetics
  • Muscle Spasticity
  • Retinal Diseases
  • Seizures

Supplementary concepts

  • Cerebroretinal Microangiopathy with Calcifications and Cysts