Superficial Epidermolytic Ichthyosis: Clinical and Histopathological Features in Two Siblings
Superficial epidermolytic ichthyosis (SEI), a type of keratinopathic ichthyosis (KPI) caused by mutations in the K2e gene, is clinically characterized by superficial blistering, hyperkeratosis predominantly involving flexures and joints, Mauserung phenomenon and epidermolytic hyperkeratosis (EH...
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Society of Dermatologists, Venereologists and Leprologists of Nepal (SODVELON)
2025-03-01
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| Series: | Nepal Journal of Dermatology, Venereology & Leprology |
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| Online Access: | https://www.nepjol.info/index.php/NJDVL/article/view/69921 |
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| author | Pooja Shah Bela Padhiar |
| author_facet | Pooja Shah Bela Padhiar |
| author_sort | Pooja Shah |
| collection | DOAJ |
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Superficial epidermolytic ichthyosis (SEI), a type of keratinopathic ichthyosis (KPI) caused by mutations in the K2e gene, is clinically characterized by superficial blistering, hyperkeratosis predominantly involving flexures and joints, Mauserung phenomenon and epidermolytic hyperkeratosis (EHK) on ultrastructural studies. Though it has been known to mankind for ages, very few families afflicted with this disease are described in the literature and its exact prevalence in the Indian population is yet undetermined. Through this case report, we wanted to highlight its various peculiar manifestations and reiterate the importance of meticulous clinical evaluation and clinicopathological correlation, especially in resource-limited settings, for effective patient management.
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| format | Article |
| id | doaj-art-a1093efa52b84e2ea52ee25df52ea3db |
| institution | Kabale University |
| issn | 2091-0231 2091-167X |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Society of Dermatologists, Venereologists and Leprologists of Nepal (SODVELON) |
| record_format | Article |
| series | Nepal Journal of Dermatology, Venereology & Leprology |
| spelling | doaj-art-a1093efa52b84e2ea52ee25df52ea3db2025-08-23T10:03:28ZengSociety of Dermatologists, Venereologists and Leprologists of Nepal (SODVELON)Nepal Journal of Dermatology, Venereology & Leprology2091-02312091-167X2025-03-0123110.3126/njdvl.v23i1.69921Superficial Epidermolytic Ichthyosis: Clinical and Histopathological Features in Two Siblings Pooja Shah0https://orcid.org/0000-0002-8887-0128Bela Padhiar1GMERS Medical College & Hospital, Gandhinagar, IndiaGMERS Medical College & Hospital, Gandhinagar, India Superficial epidermolytic ichthyosis (SEI), a type of keratinopathic ichthyosis (KPI) caused by mutations in the K2e gene, is clinically characterized by superficial blistering, hyperkeratosis predominantly involving flexures and joints, Mauserung phenomenon and epidermolytic hyperkeratosis (EHK) on ultrastructural studies. Though it has been known to mankind for ages, very few families afflicted with this disease are described in the literature and its exact prevalence in the Indian population is yet undetermined. Through this case report, we wanted to highlight its various peculiar manifestations and reiterate the importance of meticulous clinical evaluation and clinicopathological correlation, especially in resource-limited settings, for effective patient management. https://www.nepjol.info/index.php/NJDVL/article/view/69921Corrugated hyperkeratosisPalmoplantarSuperficial epidermolytic ichthyosis |
| spellingShingle | Pooja Shah Bela Padhiar Superficial Epidermolytic Ichthyosis: Clinical and Histopathological Features in Two Siblings Nepal Journal of Dermatology, Venereology & Leprology Corrugated hyperkeratosis Palmoplantar Superficial epidermolytic ichthyosis |
| title | Superficial Epidermolytic Ichthyosis: Clinical and Histopathological Features in Two Siblings |
| title_full | Superficial Epidermolytic Ichthyosis: Clinical and Histopathological Features in Two Siblings |
| title_fullStr | Superficial Epidermolytic Ichthyosis: Clinical and Histopathological Features in Two Siblings |
| title_full_unstemmed | Superficial Epidermolytic Ichthyosis: Clinical and Histopathological Features in Two Siblings |
| title_short | Superficial Epidermolytic Ichthyosis: Clinical and Histopathological Features in Two Siblings |
| title_sort | superficial epidermolytic ichthyosis clinical and histopathological features in two siblings |
| topic | Corrugated hyperkeratosis Palmoplantar Superficial epidermolytic ichthyosis |
| url | https://www.nepjol.info/index.php/NJDVL/article/view/69921 |
| work_keys_str_mv | AT poojashah superficialepidermolyticichthyosisclinicalandhistopathologicalfeaturesintwosiblings AT belapadhiar superficialepidermolyticichthyosisclinicalandhistopathologicalfeaturesintwosiblings |