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Cardio-facio-cutaneous syndrome: three additional cases and review of the literature
M Somer1, M Peippo, K Aalto-Korte
1Department of Medical Genetics, University of Helsinki, Finland.
Insights
Cardio-facio-cutaneous (CFC) syndrome, a rare genetic disorder, presents with varied psychomotor delays and distinct hair abnormalities. Skin biopsies reveal characteristic vellus hair cysts and fibrotic follicular sheaths in affected individuals.
Area of Science:
- Genetics
- Dermatology
- Pediatrics
Background:
- Cardio-facio-cutaneous (CFC) syndrome is a rare genetic disorder characterized by distinctive facial features, heart defects, and ectodermal abnormalities.
- While several genetic mutations have been linked to CFC syndrome, the phenotypic variability necessitates further investigation into genotype-phenotype correlations.
- Understanding the specific clinical manifestations and underlyingPathophysiology is crucial for accurate diagnosis and management.
Observation:
- This report details three sporadic cases of cardio-facio-cutaneous (CFC) syndrome.
- Patients presented with psychomotor retardation ranging from mild to severe.
- Key dermatological findings included minimal skin manifestations but notably abnormal, brittle, and curly hair.
Findings:
- Skin biopsy in one patient revealed vellus hair cysts filled with keratin.
- Hair follicles were surrounded by unusually thick fibrotic sheaths, suggesting a specific follicular pathology.
- These histological findings provide objective evidence of the hair abnormalities observed clinically.
Implications:
- The characteristic histological findings may aid in the diagnosis of CFC syndrome, particularly in ambiguous cases.
- Further research into the pathogenesis of these follicular abnormalities could reveal novel therapeutic targets.
- This case series underscores the importance of detailed dermatological examination in the comprehensive evaluation of patients with suspected CFC syndrome.
Abstract:
We report on 3 patients with the cardio-facio-cutaneous (CFC) syndrome. Each of them was a sporadic case in the family. The severity of the psychomotor retardation varied from mild to severe. Skin manifestations were often minimal, but each patient had abnormally curly and brittle hair. A skin biopsy from one of the patients showed vellus hair cysts filled with keratin, and the hair follicles were surrounded by unusually thick fibrotic sheaths.