Refined localization of dyschromatosis symmetrica hereditaria gene to a 9.4-cM region at 1q21-22 and a literature review of 136 cases reported in China

Abstract

This study confirms linkage of DSH to a previously mapped region and refines the DSH gene to a 9.4-cM interval at 1q21-22. Likewise, the literature review indicates that DSH is not an uncommon disorder in China and the differences in the distribution of skin lesions could be related to race and environment.

Generalized Dowling-Degos disease

“…The genetic basis for each is still being worked out. An association has been found between DSH and the double-stranded RNA-specific adenosine deaminase (DSRAD) gene, [13][14][15][16][17][18][19][20] whereas loss-of-function in the keratin 5 (KRT5) gene and a gene locus mapping to chromosome 17p13. 3 have been described recently in cases of DDD.…”

Dyschromatosis symmetrica hereditaria with cutaneous lupus erythematosus and hyperthyroidism

“…Cases with more widespread lesions involving the face, neck, and chest have been described 6. Our patient started to have skin lesions at a later age (10 years) when compared with most of the reported cases; late onset of DSH, however, has been reported in a few cases 10…”

“…Most reported cases of extracutaneous abnormalities are neurological abnormalities such as mental deterioration, dystonia, developmental regression, autistic disorder, depression, seizure disorder, intracranial hemangiomas, and Parry–Romberg syndrome 5,6,13. On the other hand, few cutaneous dermatoses have been reported with DSH-like psoriasis and neurofibromatosis type 1 7,14…”

Two Frameshift Mutations in the RNA-Specific Adenosine Deaminase Gene Associated With Dyschromatosis Symmetrica Hereditaria

“…Our previous study 8,9 mapped the first locus for DSH on chromosome 1q11-1q21. The second locus was thought to be located at chromosome 6q24.2-6q25.2 by Xing et al, 10 but their patients showed dyschromatosis over almost their entire bodies, suggesting DUH.…”