Dyschromatosis symmetrica hereditaria: A case report from Turkey, a new association and a novel gene mutation

Journal of Dermatology

Volumn 39, Issue 10, 2012, Pages 857-858

  Bilen, Nilgün ^a   AktÜrk, Aysun Şikar ^a   Kawaguchi, Masakazu ^a   Salman, Selma ^a   ErÇin, Cengiz ^b   Hozumi, Yutaka ^a   Suzuki, Tamio ^a  

^a KOCAELI UNIVERSITY   (Turkey)

^b YAMAGATA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADAR1 GENE; CASE REPORT; CHILD; DYSCHROMATOSIS SYMMETRICA HEREDITARIA; ESOPHAGUS ACHALASIA; ESOPHAGUS DILATATION; GENE; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERPIGMENTATION; HYPOPIGMENTATION; LENTIGO; LETTER; MALE; PIGMENT DISORDER; SKIN BIOPSY; TURKEY (REPUBLIC);

ADENOSINE DEAMINASE; CHILD, PRESCHOOL; EXONS; HUMANS; MALE; MUTATION; PIGMENTATION DISORDERS; TURKEY;

EID: 84867102444     PISSN: 03852407     EISSN: 13468138     Source Type: Journal    
DOI: 10.1111/j.1346-8138.2012.01575.x     Document Type: Letter

References (5)

1. Suzuki N, Suzuki T, Inagaki K, et al. Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis. J Invest Dermatol 2005; 124: 1186-1192.
2. Oyama M, Shimizu H, Ohata Y, et al. Dyschromatosis symmetrica hereditaria (reticulate acropigmentation of Dohi): report of a Japanese family with the condition and a literature review of 185 cases. Br J Dermatol 1999; 140: 491-496.
3. Aliagaoglu C, Atasoy M, Yildirim U, et al. Generalized dyspigmentation on the body. Clin Exp Dermatol 2009; 34: 737-738.
4. Darouti M, Marzouk SA, Fawzi M, et al. Reticulate acropigmentation of Dohi: a report of two new associations. Int J Dermatol 2004; 43: 595-596.
5. Gockel HR, Schumacher J, Gockel I, Lang H, Haaf T, Nöthen MM,. Achalasia: will genetic studies provide insights? Hum Genet 2010; 128: 353-364.