Dyschromatosis symmetrica hereditaria (also known as "reticulate acropigmentation of Dohi", and "symmetrical dyschromatosis of the extremities") is a rare autosomally inherited dermatosis. It is characterized by progressively pigmented and depigmented
macule
A skin condition, also known as cutaneous condition, is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, nails, and related muscle and glands. The major function of this s ...
s, often mixed in a reticulate pattern, concentrated on the dorsal extremities.
[James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. .] It was first reported in
Japan, but has also been found to affect individuals from
Europe
Europe is a large peninsula conventionally considered a continent in its own right because of its great physical size and the weight of its history and traditions. Europe is also considered a subcontinent of Eurasia and it is located entirel ...
,
India
India, officially the Republic of India (Hindi: ), is a country in South Asia. It is the seventh-largest country by area, the second-most populous country, and the most populous democracy in the world. Bounded by the Indian Ocean on the so ...
and the
Caribbean.
Genetics
This disease is caused by mutation in the double stranded
RNA specific
adenosine deaminase (
ADAR1) gene.
[Zhang GL, Shi HJ, Shao MH, Li M, Mu HJ, Gu Y, Du XF, Xie P (2013) Mutations in the ADAR1 gene in 2 Chinese families with dyschromatosis symmetrica hereditaria. Genet Mol Res 12(AOP)] This gene is located on the long arm of
chromosome 1
Chromosome 1 is the designation for the largest human chromosome. Humans have two copies of chromosome 1, as they do with all of the autosomes, which are the non- sex chromosomes. Chromosome 1 spans about 249 million nucleotide base pairs, which ...
(1q21).
Diagnosis
Diagnosis is by visualisation and
skin biopsy
Skin biopsy is a biopsy technique in which a skin lesion is removed to be sent to a pathologist to render a microscopic diagnosis. It is usually done under local anesthetic in a physician's office, and results are often available in 4 to 10 days. ...
.
Treatment
See also
*
Skin lesion
A skin condition, also known as cutaneous condition, is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, nails, and related muscle and glands. The major function of th ...
References
External links
{{Medical resources
, ICD10 = L81.8
, ICD9 =
, ICDO =
, OMIM = 127400
, DiseasesDB =
, MedlinePlus =
, eMedicineSubj =
, eMedicineTopic =
, MeSH = C535729
, GeneReviewsNBK =
, GeneReviewsName =
, Orphanet = 41
Disturbances of human pigmentation