Results 81 to 90 of about 5,312 (130)

Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin.

PLoS ONE, 2018
Ichthyosis Hystrix of Curth-Macklin (IH-CM) is a rare manifestation of epidermolytic ichthyosis (EI) that is characterised by generalised spiky or verrucous hyperkeratosis. The disorder is further distinguished by the presence of binucleated cells in the
Alessandro Terrinoni, Biagio Didona, Sabrina Caporali, Giovanni Chillemi, Alessandro Lo Surdo, Mauro Paradisi, Margherita Annichiarico-Petruzzelli, Eleonora Candi, Sergio Bernardini, Gerry Melino   +9 more
doaj   +1 more source

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

Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10

, 2015
Mutations in the keratin 10 gene (KRT10) have been shown to underlie several forms of epidermolytic ichthyosis (EI), including generalized, annular and naevoid variants.
McGrath, J A, Abdul-Wahab, A, Stephens, C, Takeichi, T, Liu, L, Akiyama, M   +5 more
core   +1 more source

Genetic Linkage of the Keratin Type II Gene Cluster with Ichthyosis Bullosa of Siemens and with Autosomal Dominant Ichthyosis Exfoliativa [PDF]

, 1994
Ichthyosis bullosa of Siemens is an autosomal dominant disease characterized by mild hyperkeratosis and blistering. Autosomal dominant ichthyosis exfoliativa is a recently described disease with clinical features similar to ichthyosis bullosa of Siemens,
Lavrijsen, Adriana P M, Steijlen, Peter M, Mariman, Edwin C M, Ropers, Hans-Hilger, Vakilzadeh, Fereydoun, Kremer, Hannie, Happle, Rudolf   +6 more
core   +1 more source

Transcriptomic analysis of the major orphan ichthyosis subtypes reveals shared immune and barrier signatures

, 2022
Preliminary work suggested upregulation of inflammatory pathways in patients with common forms of ichthyosis. However, a comprehensive characterization of skin from various ichthyosis subtypes is unavailable, precluding the development of targeted ...
Zhang N., Krueger J., Kim M., Estrada Y., Renert-Yuval Y., Guttman-Yassky E., Rangel S. M., Paller A. S., He H., Del Duca E., Ibler E., Sun M., Huynh T., Malik K., Mikhaylov D., Pavel A. B.   +15 more
core   +1 more source

First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses

, 2020
Keratinopathic ichthyoses (KI) are a clinically heterogeneous group of keratinization disorders due to mutations in KRT1, KTR10, or KRT2 genes encoding keratins of suprabasal epidermis.
Angelo Giuseppe Condorelli, Elisa Pisaneschi, Roberta Rotunno, Sabrina Rossi, Giovanna Zambruno, Andrea Diociaiuti, Marialuisa Corbeddu, Daniele Castiglia, Claudia Cesario, May El Hachem   +9 more
core   +1 more source

Bilateral ectropion in a 3 months old baby with lamellar ichthyosis: a rare case report [PDF]

, 2017
Ichthyosiform dermatoses are a group of hereditary disorders characterized by dryness and roughness of the skin with excessive accumulation of epidermal scales.
Kumar, Sweta S., Raj, Shailly, Singh, Sonali, Sami, Ifsa   +3 more
core   +1 more source

Subcorneal hematoma in superficial epidermolytic ichthyosis mimicking a melanocytic pigmented lesion

, 2011
A 22-year-old woman affected by superficial epidermolytic ichthyosis (SEI) referred to the Outpatient Consultation for Rare Diseases of the Department of Dermatology of the University of Bologna for a routine six-monthly follow up.
NERI, IRIA, PATRIZI, ANNALISA, BALESTRI, RICCARDO, DIKA, EMI   +3 more
core   +1 more source

Epidermolytic Hyperkeratosis: Applied Molecular Genetics [PDF]

, 1994
Epidermolytic hyperkeratosis is an autosomal dominant ichthyosis characterized by blistering, especially at birth and during childhood, and hyperkeratosis.
DiGiovanna, John J., Moshell, Alan N., Bale, Sherri J.   +2 more
core   +1 more source

Mosaic epidermolytic ichthyosis. [PDF]

BMJ Case Rep, 2021
Mendes SR, Gameiro AR, Cardoso JC, Reis JP.   +3 more
europepmc   +1 more source