Darier’s Disease: Report of a Case with Facial Involvement
Darier’s disease is a relatively rare autosomal dominant genodermatosis with a defect in the desmosomal attachment due to a mutation in the ATP2A2 gene. The condition is characterized by multiple hyperkeratotic papules predominantly in seborrheic areas on the head, neck, and trunk, with less frequen...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Karger Publishers
2019-12-01
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| Series: | Case Reports in Dermatology |
| Subjects: | |
| Online Access: | https://www.karger.com/Article/FullText/504925 |
| _version_ | 1811289109567635456 |
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| author | Chaninan Kositkuljorn Poonkiat Suchonwanit |
| author_facet | Chaninan Kositkuljorn Poonkiat Suchonwanit |
| author_sort | Chaninan Kositkuljorn |
| collection | DOAJ |
| description | Darier’s disease is a relatively rare autosomal dominant genodermatosis with a defect in the desmosomal attachment due to a mutation in the ATP2A2 gene. The condition is characterized by multiple hyperkeratotic papules predominantly in seborrheic areas on the head, neck, and trunk, with less frequent involvement of the oral mucosa. Histopathologically, the lesions reveal suprabasal clefts in the epithelium with acantholytic and dyskeratotic cells. Facial involvement in Darier’s disease is one of the common presenting features. However, it has been once reported in a severe, chronic form as leonine facies in a long-standing case. To raise awareness of facial involvement in Darier’s disease, we herein report a 65-year-old female patient with prominent facial lesions. |
| first_indexed | 2024-04-13T03:49:10Z |
| format | Article |
| id | doaj.art-6e81cb6203864d438498f1bf24d890e6 |
| institution | Directory Open Access Journal |
| issn | 1662-6567 |
| language | English |
| last_indexed | 2024-04-13T03:49:10Z |
| publishDate | 2019-12-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Dermatology |
| spelling | doaj.art-6e81cb6203864d438498f1bf24d890e62022-12-22T03:03:53ZengKarger PublishersCase Reports in Dermatology1662-65672019-12-0111332733310.1159/000504925504925Darier’s Disease: Report of a Case with Facial InvolvementChaninan KositkuljornPoonkiat SuchonwanitDarier’s disease is a relatively rare autosomal dominant genodermatosis with a defect in the desmosomal attachment due to a mutation in the ATP2A2 gene. The condition is characterized by multiple hyperkeratotic papules predominantly in seborrheic areas on the head, neck, and trunk, with less frequent involvement of the oral mucosa. Histopathologically, the lesions reveal suprabasal clefts in the epithelium with acantholytic and dyskeratotic cells. Facial involvement in Darier’s disease is one of the common presenting features. However, it has been once reported in a severe, chronic form as leonine facies in a long-standing case. To raise awareness of facial involvement in Darier’s disease, we herein report a 65-year-old female patient with prominent facial lesions.https://www.karger.com/Article/FullText/504925corps ronds and grainsdarier-white diseasedyskeratosis follicularishyperkeratotic papulekeratosis follicularisleonine facies |
| spellingShingle | Chaninan Kositkuljorn Poonkiat Suchonwanit Darier’s Disease: Report of a Case with Facial Involvement Case Reports in Dermatology corps ronds and grains darier-white disease dyskeratosis follicularis hyperkeratotic papule keratosis follicularis leonine facies |
| title | Darier’s Disease: Report of a Case with Facial Involvement |
| title_full | Darier’s Disease: Report of a Case with Facial Involvement |
| title_fullStr | Darier’s Disease: Report of a Case with Facial Involvement |
| title_full_unstemmed | Darier’s Disease: Report of a Case with Facial Involvement |
| title_short | Darier’s Disease: Report of a Case with Facial Involvement |
| title_sort | darier s disease report of a case with facial involvement |
| topic | corps ronds and grains darier-white disease dyskeratosis follicularis hyperkeratotic papule keratosis follicularis leonine facies |
| url | https://www.karger.com/Article/FullText/504925 |
| work_keys_str_mv | AT chaninankositkuljorn dariersdiseasereportofacasewithfacialinvolvement AT poonkiatsuchonwanit dariersdiseasereportofacasewithfacialinvolvement |