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

Francisca Morgado1, Mariana Batista1, Ana Moreno1

  • 1Department of Dermatology, Hospital da Universidade de Coimbra, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.

Pediatric Dermatology
|October 3, 2020
PubMed

Insights

A rare genetic disorder, Coats plus syndrome, shares features with dyskeratosis congenita. This case highlights the overlap and emphasizes its basis in telomere biology, impacting multiple organ systems.

Area of Science:

  • Genetics and Molecular Biology
  • Dermatology
  • Pediatrics

Background:

  • Dyskeratosis congenita is a rare inherited bone marrow failure syndrome characterized by a mucocutaneous triad.
  • Coats plus syndrome is a rare genetic disorder with overlapping clinical and genetic features with dyskeratosis congenita.
  • Both conditions are linked to telomere biology, involving genetic anomalies affecting telomere maintenance.

Observation:

  • A 6-year-old girl presented with skin hyperpigmentation, leukoplakia, and onychodystrophy, classic signs of dyskeratosis congenita.
  • Additional findings included premature graying, bone marrow failure, hepatitis, exudative retinopathy, osteopenia with fractures, and intracranial abnormalities.

Findings:

  • The patient's presentation suggests a significant clinical overlap between Coats plus syndrome and dyskeratosis congenita.
  • The shared genetic basis points to underlying telomere maintenance pathway defects as a common pathogenic mechanism.

Implications:

  • Understanding the telomere biology disorder background is crucial for diagnosing and managing patients with Coats plus syndrome.
  • This case underscores the importance of recognizing the clinical spectrum and genetic underpinnings of these related rare diseases.

Keywords:
genetic diseasesgenodermatosesmechanisms

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