Epidermolytic Hyperkeratosis - case report
Abstract: Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1:100.000 to 1:300.000, with autosomal dominant inheritance. We report the case of a 5 year old girlwho presented an hypertrophic verrucous plaques in the neck, under arm, buttocks, knees, pelvis, legs, dorsum of th...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Dermatologia
2015-12-01
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| Series: | Anais Brasileiros de Dermatologia |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962015000600888&tlng=en |
| _version_ | 1798022264213471232 |
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| author | Marcos Takeyoshi Hayashida Grasiela Lissa Mitsui Natalia Ivanoff dos Reis Giovana Fantinato Domingos Jordão Neto Ana Maria da Cunha Mercante |
| author_facet | Marcos Takeyoshi Hayashida Grasiela Lissa Mitsui Natalia Ivanoff dos Reis Giovana Fantinato Domingos Jordão Neto Ana Maria da Cunha Mercante |
| author_sort | Marcos Takeyoshi Hayashida |
| collection | DOAJ |
| description | Abstract: Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1:100.000 to 1:300.000, with autosomal dominant inheritance. We report the case of a 5 year old girlwho presented an hypertrophic verrucous plaques in the neck, under arm, buttocks, knees, pelvis, legs, dorsum of the right foot and elbows. Histological examination of the skin lesions showed typical changes of epidermolytic hyperkeratosis. Because it is an autosomal dominant disorder with complete penetrance, the individual carrying the mutation will necessarily develop the disease. However, in 50% of cases postzygotic mutation occur. The case report emphasizes early diagnosis and differential diagnoses with ichthyosis and other bullous diseases of childhood, as well as discussing the therapeutic possibilities. |
| first_indexed | 2024-04-11T17:27:07Z |
| format | Article |
| id | doaj.art-b7573f3c70064cc3b54f74985df6bf25 |
| institution | Directory Open Access Journal |
| issn | 0365-0596 |
| language | English |
| last_indexed | 2024-04-11T17:27:07Z |
| publishDate | 2015-12-01 |
| publisher | Sociedade Brasileira de Dermatologia |
| record_format | Article |
| series | Anais Brasileiros de Dermatologia |
| spelling | doaj.art-b7573f3c70064cc3b54f74985df6bf252022-12-22T04:12:18ZengSociedade Brasileira de DermatologiaAnais Brasileiros de Dermatologia0365-05962015-12-0190688889110.1590/abd1806-4841.20153966Epidermolytic Hyperkeratosis - case reportMarcos Takeyoshi HayashidaGrasiela Lissa MitsuiNatalia Ivanoff dos ReisGiovana FantinatoDomingos Jordão NetoAna Maria da Cunha MercanteAbstract: Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1:100.000 to 1:300.000, with autosomal dominant inheritance. We report the case of a 5 year old girlwho presented an hypertrophic verrucous plaques in the neck, under arm, buttocks, knees, pelvis, legs, dorsum of the right foot and elbows. Histological examination of the skin lesions showed typical changes of epidermolytic hyperkeratosis. Because it is an autosomal dominant disorder with complete penetrance, the individual carrying the mutation will necessarily develop the disease. However, in 50% of cases postzygotic mutation occur. The case report emphasizes early diagnosis and differential diagnoses with ichthyosis and other bullous diseases of childhood, as well as discussing the therapeutic possibilities.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962015000600888&tlng=enAcitretinHyperkeratosis, epidermolyticIchthyosis bullosa of siemens |
| spellingShingle | Marcos Takeyoshi Hayashida Grasiela Lissa Mitsui Natalia Ivanoff dos Reis Giovana Fantinato Domingos Jordão Neto Ana Maria da Cunha Mercante Epidermolytic Hyperkeratosis - case report Anais Brasileiros de Dermatologia Acitretin Hyperkeratosis, epidermolytic Ichthyosis bullosa of siemens |
| title | Epidermolytic Hyperkeratosis - case report |
| title_full | Epidermolytic Hyperkeratosis - case report |
| title_fullStr | Epidermolytic Hyperkeratosis - case report |
| title_full_unstemmed | Epidermolytic Hyperkeratosis - case report |
| title_short | Epidermolytic Hyperkeratosis - case report |
| title_sort | epidermolytic hyperkeratosis case report |
| topic | Acitretin Hyperkeratosis, epidermolytic Ichthyosis bullosa of siemens |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962015000600888&tlng=en |
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