Dyschromatosis symmetrica hereditaria

Dyschromatosis symmetrica hereditaria (DSH) is a rare, autosomal dominant skin condition, characterized by hyperpigmented and hypopigmented macules on the face and the dorsal aspects of the extremities.

Symptoms

The primary symptom of DSH is the presence of small, irregular, hyperpigmented (dark) and hypopigmented (light) macules on the skin. These macules are typically found on the face and the dorsal aspects of the extremities. Other symptoms may include freckle-like spots on the skin, and in some cases, the palms of the hands and soles of the feet may be affected.

Causes

DSH is caused by mutations in the ADAR gene. This gene provides instructions for making an enzyme that is involved in RNA editing. Mutations in the ADAR gene disrupt the normal function of the enzyme, leading to the skin abnormalities seen in DSH.

Diagnosis

Diagnosis of DSH is typically based on the characteristic skin abnormalities. Genetic testing can confirm a diagnosis by identifying a mutation in the ADAR gene.

Treatment

There is currently no cure for DSH. Treatment is typically focused on managing the symptoms and may include the use of skin lightening creams or laser therapy to even out skin tone.

See also

• ADAR
• RNA
• Skin pigmentation

References

Dyschromatosis symmetrica hereditaria Resources
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