Results 71 to 80 of about 11,448 (231)

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, Beatrice Carcano, Michela Brena   +2 more
wiley   +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

I Jornada de expertos en ictiosis [PDF]

, 2013
On June 22, 2012 the First Symposium of Ichthyosis Experts in Spain was held at the Hospital Niño de Jesús in Madrid. It was a one-day symposium for dermatologists, pediatricians, and physicians-in-training interested in this disease, as well as for ...
A. Hernández-Martín, A. Torrelo-Fernández, A. Vega, F. Casco, F. Larcher, H. Traupe, I. Arroyo, J.L. Pedreira-Massa, P. de Unamuno-Pérez, R. de Lucas-Laguna, R. González-Sarmiento   +10 more
core   +3 more sources

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, Alessandra Gelmetti, Annalucia Virdi, Bianca Maria Piraccini, Iria Neri   +4 more
wiley   +1 more source

Clinical Classification of Mosaicism

JEADV Clinical Practice, Volume 4, Issue 3, Page 646-651, August 2025.
Mosaic skin abnormalities can present under a segmental pattern or as ¡non‐segmental skin lesions. Non‐segmental mosaicism (Figure 1, a‐c), which is most common, includes individual point lesions, tumors, hamartomatous lesions, or malformations. Segmental mosaicism (Figure 2, a‐f)is less common and presents as asymmetric cutaneous lesions in one or ...
Andrea Diociaiuti, Teresa Oranges, Eulalia Baselga, May El Hachem   +3 more
wiley   +1 more source

Drug-related pityriasis rubra pilaris with acantholysis [PDF]

, 2013
Introduction. Acantholysis is rarely reported histological feature of Pityriasis rubra pilaris (PRP), recently recognized as having diagnostic specificity for differentiating PRP from psoriasis. Case report.
Duran Verica D., Gajinov Zorica T., Matić Milan B., Prcić Sonja T., Vujanović Ljuba M., Vučković Nada   +5 more
core   +1 more source

Intragenic PNPLA1 duplication in Labrador retrievers with nonepidermolytic ichthyosis

Veterinary Dermatology, Volume 36, Issue 3, Page 314-320, June 2025.
Background – Ichthyoses represent a heterogeneous group of cornification disorders characterised by epidermal scaling. Objectives – To describe the clinical, histopathological and genetic analysis of a Labrador retriever with nonepidermolytic ichthyosis, and the results of a Labrador retriever population screening for a newly detected PNPLA1 genomic ...
Stefan J. Rietmann, Jennifer L. Clegg, Vidhya Jagannathan, Dominique J. Wiener, Angelica Kallenberg, Robert A. Grahn, Clarissa P. Souza, Tosso Leeb   +7 more
wiley   +1 more source

A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis [PDF]

, 2017
Epidermolytic hyperkeratosis (EHK) is a blistering skin disease inherited as an autosomal-dominant trait. The disease is caused by genetic defects of the epidermal keratin K1 or K10, leading to an impaired tonofilament network of differentiating ...
Arin, Meral J., Hausser, Ingrid, Hohl, Daniel, Huber, Marcel, Kinaciyan, Tamar, Korge, Bernhard P., Krieg, Thomas, Müller, Felix B., Schaffrath, Christina   +8 more
core  

Epidemiology of epidermolysis bullosa in the antipodes: The Australasian epidermolysis bullosa registry with a focus on Herlitz junctional epidermolysis bullosa [PDF]

, 2010
To present epidemiologic and clinical data from the Australasian Epidermolysis Bullosa (EB) Registry, the first orphan disease registry in Australia. Design: Observational study (cross-sectional and longitudinal).
Hogan, Peter, Kho, Yong Chern, Murrell, Dedee F., Orchard, David, Rhodes, Lesley M., Robertson, Ian, Robertson, Susan J., Su, John, Varigos, George   +8 more
core   +1 more source

Bullous Congenitalichthyosiform Erythroderma - PS 1 Type

Indian Journal of Dermatology, 2003
We describe a case of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis) with severe transgradient type of palmoplantar keratoderma. It occurred in a thirty year old man, who was born out of first degree consanguineous marriage.
Dave Shriya, Rakhesh S. V, Thappa Devinder Mohan   +2 more
doaj