Cutis Gyrata syndrome of Beare and Stevenson

Cutis Gyrata syndrome of Beare-Stevenson is a rare genetic disorder characterized by the distinctive furrowing and wrinkling of the skin, particularly on the scalp, giving it a gyrated appearance. This condition is also associated with various craniofacial abnormalities, including craniosynostosis, which is the premature fusion of skull bones leading to an abnormal head shape. Other features may include facial anomalies, acanthosis nigricans (dark, thickened patches of skin), and abnormalities in the skin, eyes, ears, and limbs. Cutis Gyrata syndrome of Beare-Stevenson is caused by mutations in the FGFR2 (Fibroblast Growth Factor Receptor 2) gene, which plays a crucial role in cell division, growth, and maturation, as well as in the regulation of embryonic development.

Symptoms and Features

The hallmark symptom of Cutis Gyrata syndrome of Beare-Stevenson is the corrugated appearance of the skin, especially noticeable on the scalp. This condition may also present with:

• Craniosynostosis - premature fusion of the skull bones.
• Facial anomalies - including a beaked nose, an underdeveloped upper jaw, and wide-set eyes.
• Acanthosis nigricans - characterized by dark, velvety patches in body folds and creases.
• Limb abnormalities - such as broad toes and fingers, and webbing or fusion of the digits (syndactyly).
• Ear abnormalities - which can lead to hearing loss.
• Eye abnormalities - including strabismus (crossed eyes).

Genetics

Cutis Gyrata syndrome of Beare-Stevenson is caused by mutations in the FGFR2 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and tissue structures in the body. Mutations in FGFR2 lead to the abnormal activation of the protein it encodes, which disrupts the normal development of bones and tissues, including the skin. The syndrome is inherited in an autosomal dominant pattern, meaning only one copy of the altered gene in each cell is sufficient to cause the disorder. However, most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Diagnosis

Diagnosis of Cutis Gyrata syndrome of Beare-Stevenson is primarily based on the physical appearance and symptoms. Genetic testing can confirm the diagnosis by identifying mutations in the FGFR2 gene. Imaging studies, such as X-rays and CT scans, may be used to assess the extent of craniosynostosis and other skeletal abnormalities.

Treatment

There is no cure for Cutis Gyrata syndrome of Beare-Stevenson, and treatment is symptomatic and supportive. Management may include:

• Surgery to correct craniosynostosis and other skeletal abnormalities.
• Dermatological treatments for skin symptoms.
• Hearing aids or surgery for ear abnormalities.
• Vision correction for eye abnormalities.
• Physical and occupational therapy to address developmental delays and mobility issues.

Prognosis

The prognosis for individuals with Cutis Gyrata syndrome of Beare-Stevenson varies depending on the severity of symptoms and the extent of the abnormalities. Early intervention and management of symptoms can improve the quality of life for affected individuals.