Beare-Stevenson cutis gyrata syndrome

Area of Science:

• Medical Genetics
• Dermatology
• Pediatric Dysmorphology

Background:

• Beare-Stevenson cutis gyrata syndrome is a rare genetic disorder characterized by specific physical anomalies.
• Previous case reports have described various features, but a comprehensive delineation was needed.

Observation:

• The syndrome includes cutis gyrata (corrugated skin), acanthosis nigricans, craniofacial anomalies (craniosynostosis, ear defects), anogenital anomalies, skin tags, and a prominent umbilical stump.
• Four new cases are presented, adding to the six previously reported cases, allowing for a clearer definition of the syndrome.
• Cutis gyrata distribution is variable, affecting the scalp, face, neck, trunk, and extremities.

Findings:

• Craniosynostosis, specifically cloverleaf skull, was observed in three of the four new cases and is a significant feature.
• Intrauterine growth was normal in all reported cases.
• Patient outcomes and life expectancy seem correlated with the presence or absence of a cloverleaf skull.

Implications:

• The sporadic nature of all observed cases and increased paternal age suggest a possible *de novo* autosomal dominant mutation.
• Further research into the genetic underpinnings of Beare-Stevenson cutis gyrata syndrome is warranted.
• Understanding the genotype-phenotype correlations, particularly regarding the cloverleaf skull, is crucial for prognosis and management.