Two cases of Darier′s disease: ATP2A2 gene mutation analysis and a family survey / 中华皮肤科杂志
Chinese Journal of Dermatology
;
(12): 718-720, 2020.
Article
in Chinese
| WPRIM
| ID: wpr-870348
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Type of study:
Prognostic study
Language:
Chinese
Journal:
Chinese Journal of Dermatology
Year:
2020
Type:
Article
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