Familial disseminated comedones without dyskeratosis

Autosomal dominant - en

Familial disseminated comedones without dyskeratosis is a rare genetic disorder characterized by the widespread presence of comedones (blackheads and whiteheads) without the presence of dyskeratosis. This condition is inherited in an autosomal dominant manner, meaning that only one copy of the altered gene is sufficient to cause the disorder.

Clinical Features

Individuals with familial disseminated comedones without dyskeratosis typically present with numerous comedones distributed across various parts of the body, including the face, neck, back, and chest. Unlike other conditions that involve comedones, such as acne vulgaris, this disorder does not involve inflammation or scarring. The absence of dyskeratosis, which is an abnormality in the process of keratinization, distinguishes this condition from other similar disorders.

Genetics

The genetic basis of familial disseminated comedones without dyskeratosis is not fully understood. However, it is known to follow an autosomal dominant pattern of inheritance. This means that an affected individual has a 50% chance of passing the condition on to their offspring. The specific gene or genes involved in this disorder have not yet been identified.

Diagnosis

Diagnosis of familial disseminated comedones without dyskeratosis is primarily clinical, based on the characteristic appearance and distribution of comedones and the absence of dyskeratosis. A detailed family history can help in identifying the autosomal dominant pattern of inheritance. Dermatologists may use dermoscopy to examine the skin lesions more closely.

Differential Diagnosis

The differential diagnosis for familial disseminated comedones without dyskeratosis includes:

• Acne vulgaris
• Keratosis pilaris
• Favre-Racouchot syndrome
• Steatocystoma multiplex

Management

There is no specific treatment for familial disseminated comedones without dyskeratosis. Management focuses on the cosmetic concerns of the patient. Topical treatments such as retinoids and benzoyl peroxide may be used to reduce the appearance of comedones. Regular skin care routines and avoiding factors that exacerbate comedone formation can also be beneficial.

Prognosis

The prognosis for individuals with familial disseminated comedones without dyskeratosis is generally good. The condition is primarily a cosmetic concern and does not lead to serious health complications. However, the psychological impact of the visible skin lesions can be significant, and supportive care may be necessary.

See Also

• Acne vulgaris
• Keratosis pilaris
• Genetic disorders
• Dermatology