Familial disseminated comedones without dyskeratosis

A rare genetic skin disorder

Classification
External resources

Familial disseminated comedones without dyskeratosis is a rare genetic disorder characterized by the presence of numerous comedones across the body without the presence of dyskeratosis. This condition is inherited in an autosomal dominant pattern.

Presentation

Autosomal dominant inheritance pattern

The primary feature of familial disseminated comedones without dyskeratosis is the widespread distribution of comedones, which are small, flesh-colored papules that can develop into blackheads or whiteheads. These lesions are typically found on the face, neck, back, and chest, but can also appear on the arms and legs. Unlike other conditions that involve comedones, this disorder does not involve dyskeratosis, which is a pathological alteration in the skin's keratinization process.

Patients with this condition may experience cosmetic concerns due to the appearance of the comedones, but the lesions are generally not associated with significant inflammation or scarring.

Genetics

Familial disseminated comedones without dyskeratosis is inherited in an autosomal dominant manner, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder. This pattern of inheritance suggests that the condition can be passed from an affected parent to their offspring, with a 50% chance of transmission to each child.

Pathophysiology

The exact genetic mutation responsible for familial disseminated comedones without dyskeratosis has not been fully elucidated. However, it is believed to involve genes that regulate the development and maintenance of the pilosebaceous unit, which includes the hair follicle and sebaceous gland. The absence of dyskeratosis indicates that the keratinization process is not disrupted, differentiating this condition from other keratinization disorders.

Management

Chemical structure of isotretinoin

Management of familial disseminated comedones without dyskeratosis primarily focuses on the cosmetic appearance of the lesions. Topical treatments such as retinoids may be used to reduce the formation of comedones. In more severe cases, systemic treatments like isotretinoin may be considered, although the use of isotretinoin requires careful monitoring due to its potential side effects.

Patients are advised to maintain a regular skincare routine to manage the condition and to consult with a dermatologist for personalized treatment options.

Prognosis

The prognosis for individuals with familial disseminated comedones without dyskeratosis is generally good, as the condition does not typically lead to serious health complications. The primary concern is the cosmetic impact of the comedones, which can be managed with appropriate dermatological care.

Related pages

• Comedo
• Acne
• Genetic disorder
• Autosomal dominant