Results 61 to 70 of about 18,146 (216)

Cachexia and Diffuse “Fish-Scale” Skin

Annals of Internal Medicine: Clinical Cases, 2022
Ichthyosis is marked by dry, thickened, scaly skin. It may be genetic or acquired. Importantly, it may be a cutaneous manifestation of an underlying malignancy. Here, we present a striking case of paraneoplastic ichthyosis.
Charith Sairam, Mélanie J. Langelier, Donald C. Vinh   +2 more
doaj   +1 more source

Erythrokeratodermia‐Cardiomyopathy Syndrome: Expanding the DSP Mutational Spectrum Beyond Proline Substitutions

Pediatric Dermatology, EarlyView.
ABSTRACT Erythrokeratodermia cardiomyopathy (EKC) syndrome is a rare autosomal dominant disorder characterized by generalized erythrokeratoderma and progressive dilated cardiomyopathy, caused by pathogenic variants in the SR6 domain of desmoplakin (DSP).
Sepideh Hamzehlou, Ryland D. Mortlock, Caroline Echeandia‐Francis, Jing Zhou, Chao Xing, Nnenna G. Agim, Keith A. Choate, Donald A. Glass II   +7 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

Dupilumab Reduces Pruritus in Twins With Sjögren–Larsson Syndrome

Pediatric Dermatology, EarlyView.
ABSTRACT Sjögren–Larsson Syndrome (SLS), now termed ALDH3A2‐syndromic epidermal differentiation disorder (sEDD), is a rare genetic disorder marked by thickened skin, spasticity, and intellectual disability. Intractable pruritus is a nearly universal and debilitating feature of SLS that remains poorly managed by current therapies. We describe 4‐year‐old
Kennedy Gallagher, Rame Yousif, Kathryn Hummel, Amy S. Paller   +3 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

The Major Orphan Forms of Ichthyosis Are Characterized by Systemic T-Cell Activation and Th-17/Tc-17/Th-22/Tc-22 Polarization in Blood.

Journal of Investigative Dermatology, 2018
The ichthyoses are rare skin disorders with immune and barrier aberrations. Identifying blood phenotypes may advance targeted therapeutics. We aimed to compare frequencies of skin homing/cutaneous lymphocyte antigen (+) versus systemic/cutaneous ...
T. Czarnowicki, H. He, A. Leonard, K. Malik, Shai Magidi, S. Rangel, K. Patel, K. Ramsey, M. Murphrey, T. Song, Y. Estrada, H. Wen, J. Krueger, E. Guttman‐Yassky, A. Paller   +14 more
semanticscholar   +1 more source

ABCA12 Frameshift Deletion in Domestic Cats With Ichthyosis Fetalis

Veterinary Dermatology, EarlyView.
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

Phenotypic diversity of the recurrent p.Val379Leu missense mutation of the TGM1 gene

Dermatologica Sinica, 2018
Autosomal recessive congenital ichthyosis type 1 (ARCI1), a clinically heterogeneous group of keratinization disorders, develops due to mutations in the transglutaminase 1 (TGM1) gene.
Adrienn Sulák, Kornélia Tripolszki, Katalin Farkas, Márta Széll, Nikoletta Nagy   +4 more
doaj   +1 more source

Bullae and Scales in a Newborn

JEADV Clinical Practice, EarlyView.
Hamad El Hajj, Dima Jeha, Andre Megarbane, Hala Megarbane   +3 more
wiley   +1 more source

Advances in Bioprinting to Model Immune‐Mediated Skin Diseases

Advanced Healthcare Materials, Volume 15, Issue 9, 6 March 2026.
This review explores how 3D bioprinting drives innovation in developing in vitro skin models that mimic immune‐mediated diseases. It highlights current technologies, key applications in studying skin pathologies, and emerging challenges. The review points toward future opportunities for improving disease modeling and advancing therapeutic and cosmetic ...
Andrea Ulloa‐Fernández, Marica Markovic, Julia Fernández‐Pérez, Georg Stary, Aleksandr Ovsianikov   +4 more
wiley   +1 more source