Dyschromatosis symmetrica hereditaria
Dyschromatosis symmetrica hereditaria (pronunciation: dis-kro-ma-to-sis sym-me-tri-ca he-re-di-ta-ria) is a rare, genetic skin disorder characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the extremities. The condition is also known as Reticulate acropigmentation of Dohi.
Etymology
The term Dyschromatosis symmetrica hereditaria is derived from the Greek words dys meaning bad or difficult, chroma meaning color, symmetria meaning symmetry, and hereditaria referring to its hereditary nature.
Symptoms
The primary symptom of Dyschromatosis symmetrica hereditaria is the presence of small, irregular, hyperpigmented (dark) and hypopigmented (light) macules on the hands and feet. These macules are usually symmetrical and may gradually spread to other parts of the body. Other symptoms may include freckle-like spots on the face and the appearance of acanthosis nigricans.
Causes
Dyschromatosis symmetrica hereditaria is caused by mutations in the ADAR1 gene. This gene is responsible for producing an enzyme that plays a crucial role in RNA editing. The mutations lead to a decrease in the enzyme's activity, resulting in the abnormal pigmentation seen in this disorder.
Diagnosis
Diagnosis of Dyschromatosis symmetrica hereditaria is primarily based on the characteristic clinical features. Genetic testing can confirm the diagnosis by identifying mutations in the ADAR1 gene.
Treatment
There is currently no cure for Dyschromatosis symmetrica hereditaria. Treatment is symptomatic and may include the use of topical creams to lighten or darken the skin, and sun protection to prevent further skin damage.
See also
External links
- Medical encyclopedia article on Dyschromatosis symmetrica hereditaria
- Wikipedia's article - Dyschromatosis symmetrica hereditaria
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