A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis
Clinical Case Reports, 2020 Epidermolytic Ichthyosis is a rare genodermatosis related to point mutations affecting the genes encoding for keratin 1 or keratin 10. We report a case of Epidermolytic Ichthyosis in a newborn with a novel mutation (c.1433A>G) of KRT1 gene.
Francesca Caroppo +5 more
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Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing [PDF]
, 1994 Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma) is an autosomal dominant skin disorder caused by defects in the suprabasal keratins.
Holder, Rhanda A. +9 more
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Síndrome tilose hereditária e câncer de esôfago Hereditary tylosis syndrome and esophagus cancer
Anais Brasileiros de Dermatologia, 2009 A tilose palmo-plantar é um distúrbio autossômico dominante caracterizado por uma hiperceratose palmo-plantar. Em geral, desenvolve-se na segunda infância e se acentua em áreas de pressão.
Camila Alves de Souza +3 more
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Bilateral systematised epidermolytic epidermal nevus: A case report [PDF]
, 2021 Verrucous epidermal nevi (VEN) are benign congenital hamartomas consisting of keratinocytes. Histological examination mostly exhibits hyperkeratosis, acanthosis, papillomatosis and, rarely, the features of epidermolytic hyperkeratosis (EHK).
Kerawala, Sabeika R +3 more
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Ichthyosis (concept, pathohistology, clinical picture, treatment)
Vestnik Dermatologii i Venerologii, 2021 Ichthyosis is a skin disease that is hereditary, has pronounced symptoms in the form of a violation of the skin, and the presence of formations resembling fish scales.
Tatyana Gennadyevna Takhtarova +3 more
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Hiperqueratose epidermolítica em gêmeas monozigóticas: relato de caso e revisão de literatura. [PDF]
, 2007 Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Sens, Mariana Mazzochi
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Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis
Pediatric Investigation, 2023 Importance Keratinopathic ichthyosis (KPI) represents a group of predominantly autosomal dominant genodermatoses resulting from mutations in the KRT1, KRT2, or KRT10 genes. In KPI, the relationship between genotype and phenotype is complex.
Zhou Yang +5 more
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Epidermolytic hyperkeratosis: a rare case [PDF]
, 2017 A 6 month old girl presented with generalized hyperkeratosis, most marked over the flexures since birth. On the basis of the clinical& histopathologic findings, she was diagnosed as a case of epidermolytic hyperkeratosis .She was treated with ...
Pan, Koushik +4 more
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Ichthyosis associated with rickets in two Indian children
Indian Journal of Dermatology, 2013 We wish to report two cases of rickets due to vitamin D deficiency secondary to underlying ichthyotic skin disorder. The first case is of an 8-year-old male with history of multiple fluid-filled lesions over the body that would rupture to heal with ...
Dimple Kothari +3 more
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Epidermolytic hyperkeratosis (bullous ichthyosiform erythroderma) with rickets: a case report
, 2016 A 13-year-old girl presented with generalized hyperkeratosis, most marked over the flexures; windswept deformity of the legs and limping for last 8 years. On the basis of the clinical, histopathologic and biochemical findings, she was diagnosed as a case
Atif Shehzad, Saira Shaheen
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