Report of an autosomal recessive epidermolytic ichthyosis
| Autor: | Sachin Somashekhar, KS Chandan, L Shishira, SR Ashitha |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
chemistry.chemical_classification
medicine.medical_specialty Congenital ichthyosiform erythroderma integumentary system business.industry Hyperkeratosis lcsh:RJ1-570 lcsh:Pediatrics epidermolytic ichthyosis lcsh:RL1-803 medicine.disease Keratin 1 Epidermolytic hyperkeratosis Dermatology congenital ichthyosiform erythroderma epidermolytic hyperkeratosis Histological term chemistry Epidermolytic Ichthyosis Keratin lcsh:Dermatology medicine Generalized erythema medicine.symptom business |
| Zdroj: | Indian Journal of Paediatric Dermatology, Vol 21, Iss 3, Pp 221-223 (2020) |
| ISSN: | 2319-7250 |
| Popis: | Epidermolytic ichthyosis (EI) previously named bullous congenital ichthyosiform erythroderma of Brocq or epidermolytic hyperkeratosis (mostly considered as a histological term now) is rare with a variable defect of cornification, clinically characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life while hyperkeratosis increases. It is usually inherited in an autosomal-dominant fashion and is caused by the mutations in the genes KRT1 and KRT10, coding for the proteins keratin 1 and keratin 10, respectively. To date, only six recessive KRT10 mutations have been shown to cause autosomal-recessive EI, all of which have been found to lead to the complete absence of the keratin 10 protein. To the best of our knowledge, this is the first such case report from India. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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