Goltz-Gorlin syndrome

Goltz-Gorlin Syndrome Goltz-Gorlin syndrome, also known as Focal Dermal Hypoplasia, is a rare genetic disorder characterized by distinctive skin abnormalities, skeletal malformations, and other systemic manifestations. It is an X-linked dominant condition, primarily affecting females, with males often experiencing more severe symptoms.

Clinical Features

Goltz-Gorlin syndrome presents with a wide range of clinical features, which can vary significantly among affected individuals. The most common manifestations include:

• [[Skin Abnormalities]]: The hallmark of Goltz-Gorlin syndrome is the presence of linear areas of skin hypoplasia, often accompanied by telangiectasias and atrophic changes. These skin lesions typically follow the lines of Blaschko.
• [[Skeletal Anomalies]]: Patients may exhibit limb asymmetry, syndactyly, polydactyly, and other skeletal deformities. Osteopathia striata, a radiological finding, is often observed.
• [[Ocular Abnormalities]]: Colobomas, microphthalmia, and other eye defects can occur.
• [[Dental Anomalies]]: Dental issues such as hypodontia, enamel hypoplasia, and malformed teeth are common.
• [[Other Systemic Manifestations]]: These may include hernias, gastrointestinal malformations, and genitourinary anomalies.

Genetic Basis

Goltz-Gorlin syndrome is caused by mutations in the PORCN gene, which is located on the X chromosome. The PORCN gene is involved in the Wnt signaling pathway, which is crucial for embryonic development. Mutations in this gene disrupt normal signaling, leading to the diverse manifestations of the syndrome.

Diagnosis

Diagnosis of Goltz-Gorlin syndrome is primarily clinical, based on the characteristic skin and skeletal findings. Genetic testing can confirm the diagnosis by identifying mutations in the PORCN gene.

Management

There is no cure for Goltz-Gorlin syndrome, and management is symptomatic and supportive. Multidisciplinary care is often required, involving dermatologists, orthopedic surgeons, ophthalmologists, and other specialists to address the various manifestations of the disease.

Prognosis

The prognosis for individuals with Goltz-Gorlin syndrome varies depending on the severity of the symptoms and the presence of life-threatening complications. With appropriate management, many individuals can lead relatively normal lives.

See Also

• X-linked Dominant Disorders
• Wnt Signaling Pathway
• Syndromes with Skin Manifestations
• Goltz, R. W., & Gorlin, R. J. (1962). Focal dermal hypoplasia. *Archives of Dermatology*, 86(6), 708-717.
• Grzeschik, K. H., et al. (2007). Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. *Nature Genetics*, 39(7), 833-835.

NIH genetic and rare disease info

• NIH info on Goltz-Gorlin syndrome

Goltz-Gorlin syndrome is a rare disease.