Guttate hypopigmentation in Darier disease: A rare presentation
Darier disease (DD) is an autosomal dominant genodermatosis attributed to ATP2A2 gene mutation which encodes the sarco/endoplasmic reticulum Ca2+ATPase isoform 2. Due to variable gene expressivity, the clinical manifestations are often atypical and of varied severity. The classical feature of DD is...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2024-01-01
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| Series: | Pigment International |
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| Online Access: | https://journals.lww.com/10.4103/pigmentinternational.pigmentinternational_4_22 |
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| author | Aradhana Rout Ashish Kumar Pandey Karthi Kishore |
| author_facet | Aradhana Rout Ashish Kumar Pandey Karthi Kishore |
| author_sort | Aradhana Rout |
| collection | DOAJ |
| description | Darier disease (DD) is an autosomal dominant genodermatosis attributed to ATP2A2 gene mutation which encodes the sarco/endoplasmic reticulum Ca2+ATPase isoform 2. Due to variable gene expressivity, the clinical manifestations are often atypical and of varied severity. The classical feature of DD is the presence of firm yellowish brown flat to hyperkeratotic papules in a seborrheic distribution. Cobblestoning of oral mucosa and V shaped nicking of nails are also important associated findings of DD. Herein, we report a 35-year-old male patient with guttate leukoderma as a presenting feature of Darier disease with its clinical, histopathological, and dermoscopic findings. |
| format | Article |
| id | doaj-art-a078e97f6e7f4ad391b92f84f3c3e911 |
| institution | Kabale University |
| issn | 2349-5847 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Pigment International |
| spelling | doaj-art-a078e97f6e7f4ad391b92f84f3c3e9112025-01-06T05:05:37ZengWolters Kluwer Medknow PublicationsPigment International2349-58472024-01-01111565710.4103/pigmentinternational.pigmentinternational_4_22Guttate hypopigmentation in Darier disease: A rare presentationAradhana RoutAshish Kumar PandeyKarthi KishoreDarier disease (DD) is an autosomal dominant genodermatosis attributed to ATP2A2 gene mutation which encodes the sarco/endoplasmic reticulum Ca2+ATPase isoform 2. Due to variable gene expressivity, the clinical manifestations are often atypical and of varied severity. The classical feature of DD is the presence of firm yellowish brown flat to hyperkeratotic papules in a seborrheic distribution. Cobblestoning of oral mucosa and V shaped nicking of nails are also important associated findings of DD. Herein, we report a 35-year-old male patient with guttate leukoderma as a presenting feature of Darier disease with its clinical, histopathological, and dermoscopic findings.https://journals.lww.com/10.4103/pigmentinternational.pigmentinternational_4_22autosomal dominantgenodermatosisleukoderma |
| spellingShingle | Aradhana Rout Ashish Kumar Pandey Karthi Kishore Guttate hypopigmentation in Darier disease: A rare presentation Pigment International autosomal dominant genodermatosis leukoderma |
| title | Guttate hypopigmentation in Darier disease: A rare presentation |
| title_full | Guttate hypopigmentation in Darier disease: A rare presentation |
| title_fullStr | Guttate hypopigmentation in Darier disease: A rare presentation |
| title_full_unstemmed | Guttate hypopigmentation in Darier disease: A rare presentation |
| title_short | Guttate hypopigmentation in Darier disease: A rare presentation |
| title_sort | guttate hypopigmentation in darier disease a rare presentation |
| topic | autosomal dominant genodermatosis leukoderma |
| url | https://journals.lww.com/10.4103/pigmentinternational.pigmentinternational_4_22 |
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