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

Figure 2. DNA sequence of the patient’s ADAR1 gene, from c.1099 to c.1121. The boxed c.1110_1111CA was deleted in the mutant sequence of the case, which leaded to a frame-shift and resulted in a stop at codon 373. Deletion of the two nucleotides occurred at the point marked with an arrow. Dear Editor, A 5-year-old boy was referred to our clinic because of pigmentation involving the hands and feet, which had been present since he was 7–8 months old. There was no history of sun sensitivity. He had undergone dilatation operation three times because of achalasia. His parents and relatives were found to be free of similar symptoms. Dermatological examination revealed areas of mottled hyperpigmentation and hypopigmentation involving the dorsa of the hands and feet (Fig. 1a). Mild symptoms of the disease were also found on the knees and there were hyperpigmented freckle-like (1–2 mm) macules on the cheeks (Fig. 1b). Routine laboratory tests were unremarkable. Histopathological examination of skin biopsy specimen taken from a pigmented macule revealed melanin incontinence in the basal layer and a hypopigmented macule was non-specific. The ADAR1 gene was sequenced for our patient and his family members. It detected a pathological mutation, c.11101111delCAp.N370fsX373 in exon 2, in our patient and his father (Fig. 2). However, the same mutation was not detected in his mother