Dyschromatosis symmetrica hereditaria
Die Akropigmentierung vom Typ Dohi ist eine autosomal dminante Erkrankung, die durch Mutationen des ADAR-Gens hervorgerufen wird. Sie ist charakterisiert durch bereits im frühen Kindesalter auffälligen über- und unterpigmentierte Flecken insbesondere an den Extremitäten.
Gliederung
Referenzen:
| 1. |
Miyamura Y et al. (2003) Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. [^] |
| 2. |
Chao SC et al. () A novel nonsense mutation of the DSRAD gene in a Taiwanese family with dyschromatosis symmetrica hereditaria. [^] |
| 3. |
Patrizi A et al. (1994) Dyschromatosis symmetrica hereditaria associated with idiopathic torsion dystonia. A case report. [^] |
| 4. |
Urabe K et al. (1997) Dyschromatosis. [^] |
| 5. |
Oyama M et al. (1999) Dyschromatosis symmetrica hereditaria (reticulate acropigmentation of Dohi): report of a Japanese family with the condition and a literature review of 185 cases. [^] |
| 6. |
Kono M et al. (2000) Exclusion of linkage between dyschromatosis symmetrica hereditaria and chromosome 9. [^] |
| 7. |
Alfadley A et al. (2000) Reticulate acropigmentation of Dohi: a case report of autosomal recessive inheritance. [^] |
| 8. |
Zhang XJ et al. (2003) Identification of a locus for dyschromatosis symmetrica hereditaria at chromosome 1q11-1q21. [^] |
| 9. |
Xing QH et al. (2003) A gene locus responsible for dyschromatosis symmetrica hereditaria (DSH) maps to chromosome 6q24.2-q25.2. [^] |
| 10. |
None (1952) Genetical studies on skin diseases. VII. Dyschromatosis universalis hereditaria in 5 generations. [^] |
| 11. |
Müller CS et al. () The spectrum of reticulate pigment disorders of the skin revisited. [^] |
