Results 81 to 90 of about 18,146 (216)

Ichthyosis uteri with dysplasia - A case report

Indian Journal of Pathology and Microbiology, 2020
Ichthyosis uterus is an uncommon condition in which the entire surface of the endometrium is replaced by stratified squamous epithelium. This condition most commonly develops secondary to longstanding cervical obstruction or chronic inflammation.
Chitrawati B Gargade, Archana H Deshpande   +1 more
doaj   +1 more source

Molecular mechanism of the ichthyosis pathology of Chanarin-Dorfman syndrome: Stimulation of PNPLA1-catalyzed ω-O-acylceramide production by ABHD5.

Journal of dermatological science (Amsterdam), 2018
BACKGROUND ABHD5 mutations cause Chanarin-Dorfman syndrome accompanied by ichthyosis. ω-O-Acylceramide (acylceramide) is essential for skin permeability barrier formation. Acylceramide production is impaired in Abhd5 knockout mice.
Yusuke Ohno, Atsuki Nara, Shota Nakamichi, A. Kihara   +3 more
semanticscholar   +1 more source

Epidemiology of hypospadias in China: A nationwide surveillance‐based study, 2010–2020

Andrology, Volume 14, Issue 3, Page 880-889, March 2026.
Abstract Background The prevalence of hypospadias varied internationally. However, epidemiological data on hypospadias in contemporary China remain limited. Objectives We aim to examine the epidemiological characteristics of hypospadias in Chinese population.
Chen Zhiyu, Gao Yuyang, Xu Wenli, Li Wenyan, Liu Zhen, Zhou Jiayuan, Zhu Jun, Dai Li   +7 more
wiley   +1 more source

Enhanced Expression of Genes Related to Xenobiotic Metabolism in the Skin of Patients with Atopic Dermatitis but Not with Ichthyosis Vulgaris.

Journal of Investigative Dermatology, 2018
Previous transcriptome analyses underscored the importance of immunological and skin barrier abnormalities in atopic dermatitis (AD). We sought to identify pathogenic pathways involved in AD by comparing the transcriptomes of AD patients stratified for ...
S. Blunder, S. Kõks, Gea Kõks, E. Reimann, H. Hackl, R. Gruber, V. Moosbrugger-Martinz, M. Schmuth, S. Dubrac   +8 more
semanticscholar   +1 more source

Successful Treatment of Grade III Ectropion with Oral Acitretin in an Infant with Lamellar Ichthyosis: A Case Report

Indian Journal of Paediatric Dermatology
Lamellar ichthyosis, a severe form of congenital ichthyosis, is often complicated by ectropion that, if unmanaged, can result in permanent vision loss. We report a 5-month-old infant of lamellar ichthyosis with bilateral grade III ectropion treated with ...
Shreshthangsha Sayan Biswas, Rashid Shahid, Swetalina Pradhan   +2 more
doaj   +1 more source

Dermatologic Features of Endocrine Tumor Syndromes—Systematic Review and Meta‐Analysis

International Journal of Dermatology, Volume 65, Issue 3, Page 464-488, March 2026.
ABSTRACT Endocrine tumor syndromes, including multiple endocrine neoplasia types 1, 2A, and 2B (MEN1, MEN2A, MEN2B), Carney complex (CNC), and PTEN hamartoma tumor syndrome (PHTS), are hereditary conditions characterized by multisystem tumor development.
Sára Pálla, Zseraldin Metyovinyi, Fanni Adél Meznerics, Arash Mirzahosseini, Judit Tőke, Miklós Tóth, Henriett Butz, Attila Patócs, Márta Medvecz   +8 more
wiley   +1 more source

Whole-Exome-Sequencing Reveals Small Deletions in CASP14 in Patients with Autosomal Recessive Inherited Ichthyosis.

Acta Dermato-Venereologica, 2017
Ichthyoses are a genetically heterogeneous group of skin disorders characterized by a disturbed skin permeability barrier leading to an abnormal desquamation over the whole body. One of the major functions of the human skin is to protect the body against
P. Kirchmeier, A. Zimmer, B. Bouadjar, B. Rösler, J. Fischer   +4 more
semanticscholar   +1 more source

Enhancement of the Moisturizing Effect in an Injectable Sodium Hyaluronate Composite Solution by the Addition of Glycine, Alanine, and Proline

Journal of Cosmetic Dermatology, Volume 25, Issue 3, March 2026.
ABSTRACT Background Hyaluronate (HA) is widely utilized in skin rejuvenation treatments, yet mono‐component injectable sodium hyaluronate solution (ISHA) is limited by its modest moisturizing performance and frequent dosing requirements. The combination of HA with active ingredients such as amino acids represent a promising strategy to improve ...
Anxin Shi, Yayun Guan, Shijie Chen, Yibing Ding, Yingrui Chen, Shuiyun Zeng, Yiqiao Hu, Hong Dong   +7 more
wiley   +1 more source

A de novo variant in the ASPRV1 gene in a dog with ichthyosis

PLoS Genetics, 2017
Ichthyoses are a heterogeneous group of inherited cornification disorders characterized by generalized dry skin, scaling and/or hyperkeratosis. Ichthyosis vulgaris is the most common form of ichthyosis in humans and caused by genetic variants in the FLG ...
A. Bauer, Dominik P Waluk, A. Galichet, K. Timm, V. Jagannathan, B. Sayar, D. Wiener, E. Dietschi, E. Müller, P. Roosje, M. Welle, T. Leeb   +11 more
semanticscholar   +1 more source

Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother

SAGE Open Medical Case Reports
We present the cases of two brothers with ichthyosis, born to consanguineous parents, with the eldest having extracutaneous manifestations in the form of microphthalmia and corneal opacities causing complete blindness.
Rachel L Aubry, A. Micheil Innes, Richard M Haber   +2 more
doaj   +1 more source