Results 61 to 70 of about 19,213 (227)

Acid ceramidase overactivity drives ceramide loss, leading to atopic dry skin and Th2‐skewed immune polarization

The Journal of Pathology, Volume 269, Issue 2, Page 232-247, June 2026.
Abstract Ceramide deficiency in the stratum corneum (SC) is a key etiological factor in atopic dermatitis (AD). To clarify the direct role of SC ceramide depletion in impairing SC barrier and water‐holding functions and in initiating AD‐like skin symptoms and disease‐specific molecular alterations, we generated Tg mice overexpressing a mutant form of ...
Mariko Takada, Miho Sashikawa‐Kimura, Yusuke Ohno, Md Razib Hossain, Xiaonan Xie, Kazuhisa Iwabuchi, Mayumi Komine, Mamitaro Ohtsuki, Genji Imokawa   +8 more
wiley   +1 more source

Atypical Presentation of Sjögren-Larsson Syndrome

Case Reports in Pediatrics, 2017
Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal
D. Papathemeli, A. Mataftsi, A. Patsatsi, D. Sotiriadis, M. Samouilidou, S. Chondromatidou, A. Evangeliou   +6 more
doaj   +1 more source

Keratitis-ichthyosis-deafness syndrome with heterozygous p.D50N in the GJB2 gene in two Serbian adult patients

Balkan Journal of Medical Genetics, 2023
Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal dysplastic syndrome presenting with keratitis, ichthyosis and sensorineural hearing loss.
Kalezić T, Vuković I, Stojković M, Stanojlović S, Karanović J, Brajušković G, Savić-Pavićević D   +6 more
doaj   +1 more source

Mutations in the _SC4MOL_ gene encoding a novel methyl sterol oxidase cause autosomal recessive psoriasisiform dermatitis, microcephaly and developmental delay [PDF]

, 2008
Disorders of cholesterol biosynthesis have clinical manifestations involving skeleton, eyes, neurologic development, and skin. We describe a patient with congenital cataracts, developmental delay, microcephaly, and low serum cholesterol who developed ...
Abbe Vallejo, Gerard Vockley, Jacqueline Hoover, Jushua Michel, Laura Ferris, Lisa Kratz, Miao He, Michael Gibson, Richard Kelley   +8 more
core   +1 more source

ABCA12 Frameshift Deletion in Domestic Cats With Ichthyosis Fetalis

Veterinary Dermatology, Volume 37, Issue 3, Page 365-374, June 2026.
ABSTRACT Background Ichthyosis fetalis (IF), also known as harlequin ichthyosis, is a rare and often fatal autosomal recessive congenital skin disorder. It is characterized by thickened, hard skin plaques and deep skin fissures that limit mobility and cause malformations of the eyes, lips and ears.
Jeanna M. Blake, Melissa P. Swan, Kari J. Ekenstedt   +2 more
wiley   +1 more source

A Comprehensive Review of Traditional and Machine Learning‐Assisted Diffuse Optical Spectroscopy and Imaging Techniques for Dermatological Applications

Advanced Photonics Research, Volume 7, Issue 5, May 2026.
This review critically examines clinical studies on both conventional and machine learning (ML)‐integrated diffuse optical spectroscopy and imaging methods for dermatological applications, with a primary focus on the past decade and inclusion of earlier foundational work where appropriate.
Iftak Hussain, Li Xiuting, Randall Ang Jie, Keertana Vinod Ram, Mark Teo Ju Teng, Valerie Xinhui Teo, Malini Olivo, U. S. Dinish   +7 more
wiley   +1 more source

Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis

Biomedicines
Inherited ichthyoses are a group of clinically and genetically heterogeneous rare disorders of skin keratinization with overlapping phenotypes. The clinical picture and family history are crucial to formulating the diagnostic hypothesis, but only the ...
Tiziana Fioretti, Fabrizio Martora, Ilaria De Maggio, Adelaide Ambrosio, Carmelo Piscopo, Sabrina Vallone, Felice Amato, Diego Passaro, Fabio Acquaviva, Francesca Gaudiello, Daniela Di Girolamo, Valeria Maiolo, Federica Zarrilli, Speranza Esposito, Giuseppina Vitiello, Luigi Auricchio, Elena Sammarco, Daniele De Brasi, Roberta Petillo, Antonella Gambale, Fabio Cattaneo, Rosario Ammendola, Paola Nappa, Gabriella Esposito   +23 more
doaj   +1 more source

Ichthyosis Fetalis

Paediatrica Indonesiana, 2017
A severe variety of ichthyosis fetalis or Harlequin fetus is reported with a brief review of the literature. It seemed that our case, Tadjuddin's (Jakarta), and Wong Hock Boon's (Singapore) assure us that the Harlequin fetus can also be seen in the tropics and in all traces where the ichthyosis gene is present.
, Rusdidjas, H, Siregar, S, Tarigan
openaire   +3 more sources

Video Demonstration of ABCA12‐Related Harlequin Ichthyosis in a Low‐Resource Setting: Case Report and Review of Early Management Challenges

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Harlequin ichthyosis is a rare, life‐threatening neonatal dermatologic emergency that can be confidently diagnosed clinically at birth. Prompt recognition and early supportive management—including thermoregulation, fluid balance, infection prevention, and intensive skin care—are crucial determinants of survival, especially in low‐resource ...
Chukwuka Elendu, Dependable C. Amaechi, Tochi C. Elendu, Emmanuel C. Amaechi, Ijeoma D. Elendu, Emeka H. Okolo, Mbanefo C. Uyanwune   +6 more
wiley   +1 more source

A case report of squamous cell carcinoma in ichthyosis hystrix Curth-Macklin

Turkderm Turkish Archives of Dermatology and Venereology
The Curth-Macklin type of ichthyosis hystrix is an extremely rare genodermatosis presenting as generalized or nevoid forms. Clinical expression varies in the time of onset and morphology, even within families, from painful palmoplantar keratoderma to a ...
Vishalakshi Pandit, Rakesh Yelhanka
doaj   +1 more source