Letter to the Editor
Severe Darier’s disease patient with mutation of ATP2A2

Darier’s disease (DD, OMIM 124200) is an autosomal dominant genodermatosis [1, 2] characterized by warty papules and plaques in seborrheic areas, such as the central trunk, flexures, scalp and forehead. The palms and soles show punctuate keratoses, and nail involvement includes subungual hyperkeratosis, fragility and triangular nicking of the free edges. Heat and sweating may exacerbate the disease [3]. Acrokeratosis verruciformis of Hopf (AKV, OMIM 101900) is a localized disorder of keratinization affecting the distal extremities, and the dorsa of the hands are affected first and most conspicuously. Recently, more and more articles have maintained that DD and AKV are variable expressions of the same disease. Genetic studies found that both diseases have the same defective gene, the ATP2A2 gene, encoding the sarco(endo)plasmic reticulum Ca2+-ATPase2 pump (SERCA2). In this study, we report a severe DD patient who had warty lesions on the dorsa of the hands resembling AKV.
A 37-year-old Chinese man presented with a 26 years’ history of the skin lesion. He was born at full term and the neonatal period was uneventful. He developed discrete, keratotic papules on the face at the age of 11. The keratotic papules gradually increased and involved the trunk and extremities. The lesion became prominent in summer, while fainter in winter. His parents were asymptomatic. Physical examination demonstrated that the patient had normal intellectual ability, without any neuropsychiatric disorder or behavior problems. Skin-colored, yellow or yellow-brown, harsh, firm, greasy papules were widely distributed on the body (Figure 1 A). Some scattered lesions expanded and merged into warty papules and plaques. It was interesting that verruca-like lesions were noted on patient’s dorsum aspects of the hands, which were similar with AKV (Figure 1 B). Punctuate keratoses were seen on the palms and soles. The nails were normal. And no abnormal manifestations were detected in the oral cavity.
Biopsy was taken from the right forearm of the patient, and processed for routine histopathology and step sectioned consecutively. A well-developed basal layer with projections (“villi”) was in the acantholytic cleft, and hyperkeratosis and parakeratosis with rounded grains and suprabasal corps ronds (Figure 1 C).
After written informed consent, according to a protocol previously approved by the local Helsinki Committee, was obtained from the patient, and the study was approved...


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