Results 31 to 40 of about 5,336 (144)

Selective Involvement of Keratins K1 and K10 in the Cytoskeletal Abnormality of Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma) [PDF]

, 1992
Aggregation of tonofilaments within epidermal keratinocytes is a characteristic histologic feature of epidermolytic hyperkeratosis including the generalized form known as bullous congenital ichthyosiform erythroderma.
Leigh, Irene M, Irene M Leigh, McGrath, John A, Judge, Mary R, Mary R Judge, Eady, Robin A J, Lane, E Birgitte, E Birgitte Lane, Ishida-Yamamoto, Akemi., John A McGrath, Akemi. Ishida-Yamamoto, Robin A J Eady   +11 more
core   +1 more source

Genetic Bases of Epidermolysis Bullosa Simplex and Epidermolytic Hyperkeratosis [PDF]

, 1994
Keratins are the major structural proteins of the epidermis. Analyzing keratin gene sequences, appreciating the switch in keratin gene expression that takes place as epidermal cells commit to terminally differentiate, and elucidating how keratins ...
Hutton, Elizabeth, Syder, Andrew, Vassar, Robert, Cheng, Jian, Letai, Anthony, Degenstein, Linda, Chan, Yiu-mo, Fuchs, Elaine, Yu, Qian-Chun, Coulombe, Pierre   +9 more
core   +1 more source

Epidermolytic ichthyosis without keratin 1 or 10 mutations: A case report

Saudi Journal of Medicine and Medical Sciences, 2018
In this paper, the authors report a case of an 11-year-old boy with epidermolytic ichthyosis who presented with multiple scattered erosions and typical hyperkeratotic plaques over the face, upper and lower extremities, the trunk, palms and soles.
Ali A Al Raddadi, Taha H Habibullah, Ahmed M Abdelaal, Angie M Felimban, Hosam A Al Raddadi, Mohamed B Satti   +5 more
doaj   +1 more source

Mutations in the H1 and 1A Domains in the Keratin 1 Gene in Epidermolytic Hyperkeratosis [PDF]

, 1994
In the autosomal dominant disorder epidermolytic hyperkeratosis, the structural integrity of the keratin intermediate filaments is altered in the suprabasal layers of the epidermis. We and others have used genetic linkage studies and mutation analysis to
Compton, John G, Marekov, Lyuben N., Steinert, Peter M., Peter M. Steinert, Yang, Jun-Mo, Sherri J. Bale, Jun-Mo Yang, Bale, Sherri J., Constantin C. Chipev, Lyuben N. Marekov, DiGiovanna, John J., John J. DiGiovanna, John G Compton, Chipev, Constantin C.   +13 more
core   +1 more source

Hiperceratose epidermolítica: um seguimento de 23 anos de uso de retinoides orais Epidermolytic hyperkeratosis: a follow-up of 23 years of use of systemic retinoids

Anais Brasileiros de Dermatologia, 2011
A hiperceratose epidermolítica é uma forma de ictiose geralmente resistente a tratamentos tópicos. Relata-se um caso de paciente feminina , em acompanhamento na dermatologia desde 1978, com diagnóstico de hiperceratose epidermolítica.
Priscila Wolf Nassif, Sadamitsu Nakandakari, Letícia Fogagnolo, Letícia Arsie Contin, Cinthia Janine Meira Alves   +4 more
doaj   +1 more source

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, Elena Cama, Roberto Salmaso, Cinzia Bertolin, Leonardo Salviati, Anna Belloni Fortina   +5 more
doaj   +1 more source

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., Roop, Dennis R., Rothnagel, J. A., Holder, R. A., Roop, D. R., Kuster, W., Rothnagel, Joseph A., Longley, M. A., Longley, Mary A., Küster, Wolfgang   +9 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, Allan da Costa Santos, Lennon da Costa Santos, Artur Leonel Carneiro   +3 more
doaj   +1 more source

Adult‐onset epidermal nevus with epidermolytic hyperkeratotic pattern: Case report and dermoscopic findings

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, Nasimi Maryam, Kamyab Kambiz, Mahmoudi Hamidreza   +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, Kerawala, Sabeika R., Rizvi, Najam-Us-Saher, Tabassum, Saadia   +3 more
core   +1 more source