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

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.

Coats Plus Syndrome in a Premature Infant, With a Focus on Management

“…5,7,8 These infants should also be examined for skin hyperpigmentation, leukoplakia, and nail dystrophies. 9…”

“…Laser photocoagulation is the main constant of the many different treatment paradigms for Coats plus syndrome and FEVR. 3,7,9,12…”

“…5,7,8 These infants should also be examined for skin hyperpigmentation, leukoplakia, and nail dystrophies. 9 The genetic etiology of Coats plus syndrome was defined in 2012 when whole-genome sequencing of 10 patients with the disorder showed missense and nonsense variants of the CTC1 gene. 1 The CTC1 gene is located on 17p13.1 and encodes the CTC1 protein, a component of the CST complex implicated in maintaining telomere integrity.…”

Challenges in HIV-Negative Cytomegalovirus Retinitis – case report

“…This mutation produces telomere dysfunction with instability of STN1, a protein coding gene, and reduced ability to interact with DNA, generating cellular proliferation disturbance. The mutation is also assumed to be associated with autosomal recessive cerebroretinal microangiopathy (Coats’ plus disease), with calcifications and cysts, which could explain the patient’s neurologic and retinal inadequacy, microangiopathy with abnormal vascular permeability, calcifications and cysts formation [ 18 ]. Moreover, the cerebral and pulmonary lesions have shown signs of progression, consistent with the worsening of symptoms.…”

Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita

“…Coats plus syndrome (OMIM #612199) is a rare AR disease due to pathogenic variants in the CTC1 gene [ 35 ], with cerebroretinal microangiopathy, intracranial calcifications, brain cysts, leukodystrophy, osteopenia, bone fractures and poor bone healing [ 44 ] and gastrointestinal bleeding [ 45 , 46 ].…”