Systematized epidermolytic epidermal nevus (ichthyosis hystrix) [PDF]
, 2015 Ichthyosis hystrix is a term used to describe an autosomal dominant rare form of an ichthyosiform dermatosis which is characterized by hyperkeratotic spiny scales. We present a healthy 22-year-old man with lesions which clinically and histopathologically
Guleva, Dimitrina +3 more
core +2 more sources
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
doaj +1 more source
Epidermolytic Ichthyosis Sine Epidermolysis [PDF]
, 2017 Epidermolytic ichthyosis (EI) is a rare disorder of cornification caused by mutations in KRT1 and KRT10, encoding two suprabasal epidermal keratins. Because of the variable clinical features and severity of the disease, histopathology is often required ...
Drozhdina, Marianna +18 more
core +1 more source
, 2023 [EN]The ichthyoses are a large, heterogeneous group of skin cornification disorders. They can be inherited or acquired, and result in defective keratinocyte differentiation and abnormal epidermal barrier formation.
Akiyama, Masashi +6 more
core +1 more source
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
doaj +1 more source
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 +2 more
core +2 more sources
Verruciform Xanthoma Within the Cyst Lining of Hidradenitis Suppurativa
Journal of Cutaneous Pathology, EarlyView.ABSTRACT Verruciform xanthoma (VX) is a rare lesion most often seen in the oral mucosa or anogenital region, most commonly characterized histologically by verrucous epithelial hyperplasia and foamy histiocytes in the papillary dermis. While VX has been reported in association with inflammatory dermatoses such as lichen planus and lichen sclerosus, its ...
Deaquan Nichols +4 more
wiley +1 more source
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
doaj +1 more source
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
core
An in‐frame 18 bp deletion in linker domain L1 of KRT9 identified in a Japanese patient with epidermolytic palmoplantar keratoderma [PDF]
, 2023 journal ...
Akiyama, Masashi +5 more
core +1 more source