Dyschromatosis symmetrica hereditaria

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Dyschromatosis symmetrica hereditaria
Autosomal dominant - en.svg
Synonyms Reticulate acropigmentation of Dohi
Pronounce
Specialty N/A
Symptoms Hyperpigmentation and hypopigmentation on the hands and feet
Complications
Onset Childhood
Duration Lifelong
Types N/A
Causes Genetic mutation in the ADAR gene
Risks
Diagnosis Clinical diagnosis, genetic testing
Differential diagnosis Dyschromatosis universalis hereditaria, Xeroderma pigmentosum, Reticulate acropigmentation of Kitamura
Prevention
Treatment Sun protection, cosmetic camouflage
Medication
Prognosis Generally benign
Frequency Rare
Deaths


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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

References[edit | edit source]

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Contributors: Prab R. Tumpati, MD