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Atopic dermatitis presenting as generalized poikiloderma with filaggrin gene mutation

Dear Editor, Poikiloderma is a characteristic skin condition consisting of pigmentation, depigmentation, telangiectasia and atrophy, and is seen in a number of diseases. Here, we report a patient with atopic dermatitis (AD) with filaggrin (FLG) gene mutation, presenting as marked generalized poikiloderma. A 26-year-old man was referred to us for evaluation of his recalcitrant itchy eruption. In his childhood, the patient had asthma and eczematous lesions, diagnosed as AD, which gradually turned to poikiloderma in his late teens. His AD had been treated with topical corticosteroids, but he denied their extensive usage. On examination, the patient had a poikilodermatous eruption on the chest (Fig. 1a) and back (Fig. 1b), extending to the neck and proximal parts of the limbs. The eruption was a mixture of small pigmentary and depigmentary elements with fine telangiectasia (Fig. 1c). Concomitantly, there were eczematous lesions on the antecubital fossae and dorsal aspects of the hands. He had palmar hyperlinearity (Fig. 1d) and scaly dry skin on the extremities, especially on the shins. No photosensitivity, nail abnormality or cataracta was found. His SCORAD level was 50.5, and visual analog scale of pruritus was 41. Laboratory examination revealed high levels of total serum immunoglobulin (Ig)E (13 207 kU/L; normal, <160) and serum CCL17/TARC (1124 pg/mL; normal, <450). The following values were normal or negative: complete blood counts, leukocyte differentiation, antinuclear and anti-DNA antibodies, complements and soluble interleukin-2 receptor. Histopathologically, a biopsy from poikiloderma showed moderate elongation of rete ridges with melanosis on their tips (Fig. 1e). There was a perivascular infiltrate of lymphocytes intermingled with melanophages in the upper dermis. Cellular atypia of lymphocytes was not observed. The patient’s blood was subjected to FLG mutation analysis to detect the eight reported mutations specific to Japanese (R501X, 3321delA, S1695X, Q1701X, S2554X, S2889X, S3296X and K4022X). Genotyping was performed using polymerase chain reaction and restriction enzyme digest analysis,