Dyschromatosis Symmetrica Hereditaria and RNA Editing Enzyme

Pigmentary anomalies and neurologic symptoms in two siblings

“…2 Also, ADAR1 mutation causes glutamatergic overactivity and increased calcium influx through these receptors, which may contribute to dystonia. 3 Although considered primarily a cutaneous disorder, there are several reports of neurologic abnormalities associated with DSH, including dystonia, mental retardation, regression of milestones, brain calcification, seizure disorder, and autism. [4][5][6][7][8][9] In a retrospective case series of 25 patients with DSH, 3 (12%) had neurologic involvement.…”

“…This causes hypopigmentation, followed by migration of melanocytes from hair bulge leading to hyperpigmented macules but the reason for this affecting only face and extremities remains unexplained 2 . Also, ADAR1 mutation causes glutamatergic overactivity and increased calcium influx through these receptors, which may contribute to dystonia 3 . Although considered primarily a cutaneous disorder, there are several reports of neurologic abnormalities associated with DSH, including dystonia, mental retardation, regression of milestones, brain calcification, seizure disorder, and autism 4‐9 .…”

The biology of hyperpigmentation syndromes

“…It has been put forward that an aberrant editing of RNA during the migration of melanoblasts results in areas of hyperactive and hypoactive melanocytes with different capacity of melanin production (Cui et al, 2005;Miyamura et al, 2003). On histological examination, the melanocytes in the hyperpigmented macules are increased in size but not in number (Kono and Akiyama, 2013).…”