Rombo syndrome

Autosomal dominant - en

Rombo syndrome is a rare genetic disorder characterized by distinctive skin abnormalities, a predisposition to certain types of skin cancer, and other systemic manifestations. The syndrome was first described in the medical literature in the early 1980s.

Presentation

Individuals with Rombo syndrome typically present with a variety of skin abnormalities that become apparent in early childhood. These include:

• Atrophoderma vermiculatum: A condition characterized by pitted scars on the face.
• Telangiectasia: Small, dilated blood vessels near the surface of the skin.
• Hypotrichosis: Reduced hair growth, particularly affecting the scalp, eyebrows, and eyelashes.
• Acral erythema: Redness of the skin, particularly on the hands and feet.

Genetics

Rombo syndrome is inherited in an autosomal dominant pattern, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder. The specific gene or genes associated with Rombo syndrome have not yet been identified.

Diagnosis

The diagnosis of Rombo syndrome is primarily clinical, based on the characteristic skin findings and family history. Genetic testing may be used to rule out other conditions with similar presentations.

Management

There is no cure for Rombo syndrome, and treatment is primarily supportive. Management strategies may include:

• Regular dermatological evaluations to monitor for skin cancer.
• Use of sunscreens and protective clothing to minimize sun exposure.
• Cosmetic treatments for skin lesions, such as laser therapy.

Prognosis

The prognosis for individuals with Rombo syndrome varies. While the skin abnormalities are typically benign, there is an increased risk of developing basal cell carcinoma and other skin cancers, which requires ongoing surveillance and management.

Related Pages

• Atrophoderma vermiculatum
• Telangiectasia
• Hypotrichosis
• Acral erythema
• Basal cell carcinoma
• Autosomal dominant