Results 71 to 80 of about 13,745 (220)
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
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
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
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
Clinical Case Reports, 2020 EN is a hamartomatous proliferation of keratinocytes. The most common dermoscopic feature of EN is large brown circles in the absence of pigment network which is similar in different histopathological variants including epidermolytic hyperkeratotic.
Ansari Mahshid Sadat +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
Epidermolytic Hyperkeratosis: Applied Molecular Genetics
Journal of Investigative Dermatology, 1994 Epidermolytic hyperkeratosis is an autosomal dominant ichthyosis characterized by blistering, especially at birth and during childhood, and hyperkeratosis. Epidermolytic hyperkeratosis presents striking clinical heterogeneity, particularly between families.
Moshell, Alan N. +2 more
openaire +3 more sources
Epidermal Nevi and Epidermal Naevus Syndromes
JEADV Clinical Practice, Volume 4, Issue 3, Page 669-680, August 2025.ABSTRACT Epidermal nevi (EN) arise from postzygotic variants in ectoderm‐derived cell lines, such as keratinocytes and cells forming adnexa. EN may be present alone without any associated abnormality or be part of a syndrome. In this review, we will discuss about the clinical and genetics of the main types of EN and related syndromes.
Gianluca Tadini +2 more
wiley +1 more source
Diagnostic Workup of Mosaicism in Children
JEADV Clinical Practice, Volume 4, Issue 3, Page 659-663, August 2025.ABSTRACT Mosaicism refers to a phenomenon in which a variant event occurs, resulting in two or more different cell populations within the same individual. This contribution provides a practical approach to the diagnosis and evaluation of paediatric patients with cutaneous mosaicisms, including clues to distinguish other conditions in the differential ...
Francesca Besagni +4 more
wiley +1 more source