Dyschromatosis universalis hereditaria

A rare genetic skin disorder

Classification
External resources

Dyschromatosis universalis hereditaria (DUH) is a rare genetic disorder characterized by a mixture of hyperpigmented and hypopigmented macules distributed over the body. It is an autosomal dominant condition, although autosomal recessive forms have also been reported.

Presentation

Individuals with dyschromatosis universalis hereditaria typically present with a mottled appearance of the skin due to the presence of both hyperpigmented and hypopigmented macules. These macules are usually distributed symmetrically across the body, including the trunk, limbs, and sometimes the face. The condition often becomes apparent in infancy or early childhood and tends to progress with age.

Genetics

DUH is primarily inherited in an autosomal dominant manner, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. However, some cases have been linked to autosomal recessive inheritance. Mutations in the ABCB6 gene have been associated with the condition, although the exact pathophysiological mechanisms remain unclear.

Pathophysiology

The pathophysiology of dyschromatosis universalis hereditaria involves abnormalities in the melanin production or distribution within the skin. The presence of both hyperpigmented and hypopigmented areas suggests a defect in the regulation of melanocyte function or melanin synthesis. The specific molecular pathways disrupted in DUH are still under investigation.

Diagnosis

The diagnosis of DUH is primarily clinical, based on the characteristic appearance of the skin. A detailed family history can aid in identifying the hereditary nature of the condition. Genetic testing may be used to confirm the diagnosis and identify mutations in the ABCB6 gene or other associated genes.

Management

There is currently no cure for dyschromatosis universalis hereditaria. Management focuses on cosmetic concerns and may include the use of cosmetic camouflage to even out skin tone. Patients should be monitored for any potential complications, although the condition is generally benign and does not affect overall health.

Prognosis

The prognosis for individuals with DUH is generally good, as the condition is primarily cosmetic and does not typically lead to other health issues. However, the psychological impact of the skin changes can be significant, and supportive care may be beneficial.

Related pages

• Genetic disorders
• Melanin
• Skin pigmentation
• Autosomal dominant
• Autosomal recessive