Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome

Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome (also known as Beare-Stevenson cutis gyrata syndrome) is an extremely rare genetic disorder characterized by the triad of cutis gyrata (furrowed, thickened skin with a corrugated appearance), acanthosis nigricans (dark, velvety thickening of the skin, particularly in body folds), and craniosynostosis (premature fusion of the skull bones). The condition is caused by gain-of-function mutations in the FGFR2 (fibroblast growth factor receptor 2) gene. Affected individuals typically present at birth with a distinctive craniofacial appearance including a cloverleaf skull deformity (Kleeblattschädel) or other forms of craniosynostosis, midface hypoplasia, prominent eyes, and ear anomalies. The widespread skin abnormalities, particularly the deeply furrowed cutis gyrata pattern, are a hallmark feature that distinguishes this condition from other FGFR2-related craniosynostosis syndromes. The syndrome affects multiple body systems, including the skeletal system (craniosynostosis, digital anomalies), the integumentary system (cutis gyrata, acanthosis nigricans, skin tags), and the craniofacial structures. Additional features may include anogenital anomalies, a prominent umbilical stump, and developmental delay. The prognosis is generally poor, with many affected individuals experiencing significant morbidity and early mortality, often related to respiratory complications or neurological compromise from increased intracranial pressure. Management is supportive and multidisciplinary, involving neurosurgical intervention for craniosynostosis to relieve intracranial pressure, craniofacial reconstruction, and dermatologic care. There is no cure for the underlying genetic condition, and treatment focuses on addressing individual symptoms and complications as they arise.

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