Familial reactive perforating collagenosis (FRC) is a rare skin disorder that is inherited in an autosomal dominant pattern. It is characterized by the formation of small, firm, and often painful bumps on the skin that can become red and inflamed. These bumps are caused by the abnormal production of collagen, a protein that helps form the structure of the skin. FRC is usually diagnosed in childhood or adolescence and can affect any area of the body, although it is most commonly seen on the lower legs. Treatment typically involves topical medications and lifestyle changes.

The main symptom of Familial reactive perforating collagenosis is the development of small, firm, raised bumps on the skin. These bumps may be red, yellow, or brown in color and may be filled with a clear fluid. Other symptoms may include itching, burning, or Pain in the affected area. In some cases, the bumps may become infected and cause scarring.

The exact cause of familial reactive perforating collagenosis is unknown. However, it is believed to be an inherited disorder caused by a mutation in the gene that codes for the enzyme lysyl oxidase. This enzyme is responsible for the production of collagen, a protein that provides structure and strength to the skin. Mutations in this gene can lead to a decrease in collagen production, resulting in weakened skin that is more prone to perforating.

The main treatment for Familial reactive perforating collagenosis is topical corticosteroids. These can help reduce inflammation and itching. Other treatments may include topical retinoids, topical calcineurin inhibitors, and systemic retinoids. In some cases, surgery may be necessary to remove the affected skin.

1. Family history of Familial reactive perforating collagenosis
2. Age: typically occurs in young adults
3. Sun exposure
4. Genetic predisposition
5. Certain medications, such as lithium, anticonvulsants, and nonsteroidal anti-inflammatory drugs
6. Certain skin conditions, such as psoriasis, eczema, and lichen planus
7. Certain medical conditions, such as diabetes, kidney disease, and thyroid disease

At this time, there is no known cure for Familial reactive perforating collagenosis. However, there are medications that can be used to help manage the symptoms. These include topical corticosteroids, topical retinoids, and systemic retinoids. Additionally, phototherapy and laser treatments may be used to reduce the appearance of lesions.