Results 31 to 40 of about 6,090 (177)

Case Report - Epidermolytic hyperkeratosis with rickets [PDF]

, 2006
A 6-year-old child presented with generalized hyperkeratosis, most marked over the flexures; windswept deformity of the legs; and limping since 3 years. On the basis of the clinical, histopathologic and biochemical findings, he was diagnosed as a case
A. Sahu, Basanti Acharjya, Surajit Nayak, D. Mishra, Samira Kumar Behera   +4 more
core   +2 more sources

Superficial Epidermolytic Ichthyosis: Clinical and Histopathological Features in Two Siblings

Nepal Journal of Dermatology, Venereology & Leprology
Superficial epidermolytic ichthyosis (SEI), a type of keratinopathic ichthyosis (KPI) caused by mutations in the K2e gene, is clinically characterized by superficial blistering, hyperkeratosis predominantly involving flexures and joints, Mauserung ...
Pooja Shah, Bela Padhiar
doaj   +3 more sources

Congenital ichthyosis in a Maltese dog: A case report

Veterinární Medicína, 2021
This case report describes congenital ichthyosis in a Maltese dog, a condition, which has not previously been reported in this breed. The dog presented with several dry, tightly adhering scales showing a multi-focal appearance.
Kim TS, Seo JA, Oh TH, Park JK, Jeong KS, Hong IH   +5 more
doaj   +1 more source

Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin

Case Reports in Dermatology, 2015
Background: Pachyonychia congenita (PC) is a rare autosomal dominant disease whose main clinical features include hypertrophic onychodystrophy and palmoplantar keratoderma.
Fahad Almutawa, Thusanth Thusaringam, Kevin Watters, Tenzin Gayden, Nada Jabado, Denis Sasseville   +5 more
doaj   +1 more source

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

A Novel Substitution in Keratin 10 in Epidermolytic Hyperkeratosis [PDF]

, 1999
Epidermolytic hyperkeratosis is characterized by tonofilament clumping, cytolysis, and blister formation in suprabasal keratinocytes. It has been shown that the tonofilament aggregates in these areas are composed of keratin 1 (K1) and keratin 10 (K10 ...
Rothnagel, J. A., Roop, Dennis R., Roop, D. R., Rothnagel, Joseph A., Longley, M. A., Anton-Lamprecht, I., Arin, M. J., Arin, Meral J., Huber, M., Huber, Marcel, Anton-Lamprecht, Ingrun, Kurze, Gunter, Hohl, D., Hohl, Daniel, Kurze, G., Longley, Mary A.   +15 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