Familial cutaneous collagenoma

Autosomal dominant - en

Familial Cutaneous Collagenoma is a rare genetic disorder characterized by the development of multiple, asymptomatic, flesh-colored collagen nodules on the skin. These nodules are primarily composed of excessive collagen deposition in the dermis, the thick layer of living tissue below the epidermis that forms the true skin. Familial cutaneous collagenoma is part of a group of skin conditions known as connective tissue nevi, which are non-cancerous growths resulting from a localized abnormality in the production or degradation of the components of the connective tissue.

Etiology

The exact cause of familial cutaneous collagenoma is not well understood, but it is believed to have a genetic basis due to its familial occurrence. It is thought to be inherited in an autosomal dominant manner, meaning that only one copy of the altered gene in each cell is sufficient to cause the disorder. The specific genes involved have not been clearly identified.

Clinical Features

Familial cutaneous collagenoma typically presents in late childhood or early adulthood. The collagenomas are usually distributed over the trunk, arms, and legs but can appear anywhere on the body. These nodules are generally benign and do not cause any symptoms, but their appearance can be a cosmetic concern for some individuals.

Diagnosis

The diagnosis of familial cutaneous collagenoma is primarily clinical, based on the appearance of the skin lesions and a family history of similar conditions. A skin biopsy may be performed to confirm the diagnosis, which will show an increase in collagen fibers in the dermis without the presence of other significant abnormalities.

Treatment

There is no specific treatment for familial cutaneous collagenoma. Management focuses on addressing cosmetic concerns, which may involve surgical removal of the nodules or laser therapy. However, these treatments may not be effective for all individuals, and there is a risk of scarring.

Prognosis

The prognosis for individuals with familial cutaneous collagenoma is generally good, as the condition is benign and does not affect overall health. However, the nodules may increase in size or number over time, and new nodules can develop.

See Also

• Connective tissue nevi
• Dermis
• Genetic disorder
• Autosomal dominant inheritance