Beare–Stevenson cutis gyrata syndrome is a rare genetic disorder characterized by craniosynostosis (premature fusion of certain bones of the skull, sometimes resulting in a characteristic 'cloverleaf skull'; further growth of the skull is prevented, and therefore the shape of the head and face is abnormal) and a specific skin abnormality, called cutis gyrata, characterized by a furrowed and wrinkled appearance (particularly in the face and on the palms and soles of the feet); thick, dark, velvety areas of skin ( acanthosis nigricans) are sometimes found on the hands and feet and in the groin. ^{[2] [3]}

Presentation

Signs and symptoms of Beare–Stevenson cutis gyrata syndrome can include a blockage of the nasal passages ( choanal atresia), overgrowth of the umbilical stump, and abnormalities of the genitalia and anus. The medical complications associated with this condition are often severe and may well be life-threatening in infancy or early childhood.

Genetics

Several mutations in the FGFR2 gene (a gene coding for a protein called fibroblast growth factor receptor 2, which is involved in important signaling pathways) are known to cause Beare–Stevenson cutis gyrata syndrome; ^[3] however, not all patients with the condition have a mutation in their FGFR2 gene. Any alternative underlying causes are currently unidentified. The syndrome follows an autosomal dominant pattern, meaning that if one of the two available genes carries a mutation the syndrome will result. Currently, no familial histories are known (in other words, there are no reports of cases in which a parent carrying a mutation in their FGFR2 gene then propagated said mutation to his or her child).

Diagnosis

Identification of the p.Pro250Arg pathogenic variant in FGFR3; the diagnosis of FGFR2-related isolated coronal synostosis is based on the identification of a FGFR2 pathogenic variant. The diagnosis of the other six FGFR-related craniosynostosis syndromes is based on clinical findings; molecular genetic testing of FGFR1, FGFR2, and FGFR3 may be helpful in establishing the specific diagnosis in questionable cases. ^[4]

Treatment

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Incidence

Beare–Stevenson cutis gyrata syndrome is so rare that a reliable incidence cannot be established as of yet; fewer than 25 patients with the condition have been reported.

See also

• Cutis verticis gyrata
• List of cutaneous conditions

References

External links