Follicular atrophoderma-basal cell carcinoma

Follicular Atrophoderma-Basal Cell Carcinoma (FABCC) is a rare genetic disorder characterized by the development of skin abnormalities and an increased risk of basal cell carcinoma (BCC), a common form of skin cancer. This condition is part of a spectrum of diseases known as genodermatoses, which are genetic disorders with dermatological manifestations.

Symptoms and Characteristics

Follicular atrophoderma-basal cell carcinoma syndrome is marked by distinct skin features that typically begin to appear in childhood or adolescence. The primary symptom, follicular atrophoderma, involves the formation of small, pit-like depressions on the skin, particularly on the hands, arms, and face. These depressions are due to the atrophy or shrinking of the hair follicles. In addition to skin atrophy, individuals with FABCC may develop multiple basal cell carcinomas, especially during adulthood. These carcinomas are malignant tumors that, if left untreated, can spread to surrounding tissues but are less likely to metastasize than other forms of skin cancer.

Genetics

Follicular atrophoderma-basal cell carcinoma is inherited in an autosomal dominant manner, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. The specific gene(s) associated with FABCC have not been conclusively identified, but mutations in genes that are involved in the Sonic hedgehog (Shh) signaling pathway, which plays a crucial role in the regulation of cell growth and development, are believed to be involved.

Diagnosis

Diagnosis of FABCC is primarily based on the clinical presentation of the skin abnormalities and a family history of similar symptoms. Dermatological examination and biopsy of skin lesions can help confirm the diagnosis. Genetic testing may also be offered to identify mutations associated with the condition, although the absence of a known mutation does not rule out the diagnosis.

Treatment

There is no cure for follicular atrophoderma-basal cell carcinoma syndrome, and treatment focuses on managing symptoms and preventing complications. Regular skin examinations are crucial for early detection and treatment of basal cell carcinomas. Surgical removal of the carcinomas is the most common treatment, but other options such as cryotherapy, photodynamic therapy, and topical medications may also be considered depending on the size, location, and number of lesions. Additionally, individuals with FABCC should practice strict sun protection to reduce the risk of developing skin cancers.

Prognosis

The prognosis for individuals with follicular atrophoderma-basal cell carcinoma syndrome largely depends on the number, size, and location of basal cell carcinomas. Early detection and treatment of these carcinomas can significantly reduce the risk of complications. With appropriate management, most individuals with FABCC can lead normal, healthy lives.

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