Two cases of Darier′s disease: ATP2A2 gene mutation analysis and a family survey / 中华皮肤科杂志

ABSTRACT

Case 1, a 16-year-old male patient, presented with local verrucous hyperplasia and clustered brown follicular keratotic papules on the face, neck and bilateral axillae, some of which merged into plaques; his mother had similar medical history and clinical manifestations. Case 2, a 21-year-old male patient, presented with local verrucous hyperplasia and diffuse follicular keratotic papules on the head, face, neck, trunk, bilateral axillae and buttocks, some of which merged into patchy lesions; none of his family members had similar symptoms. Histopathological examination of the neck skin lesion of the case 2 showed epidermal hyperkeratosis with focal parakeratosis, suprabasal cleft with acantholysis, "villi" , corps ronds and grains in the spinous layer, and inflammatory cells infiltrating the superficial dermis. Genetic testing showed a missense mutation c.2300A>G in exon 15 of the ATP2A2 gene in both the case 1 and his mother, and a splice-region mutation c.2097+5G>A at the junction between exon 15 and intron 15 of the ATP2A2 gene in the case 2. Neither of these mutations were identified in the other family members of the 2 patients.