Results 111 to 120 of about 31,665 (304)

Resolution of Pseudoainhum with Acitretin in Lamellar Ichthyosis

Nepal Journal of Dermatology, Venereology & Leprology
Lamellar ichthyosis is an autosomal recessive type of ichthyosis characterized by abnormal skin scaling, ectropion and ear abnormalities. Pseudoainhum is the appearance of constriction bands around digits which can lead to autoamputation of digits. Here
Srisukhirthi Sukumar, Nithiyaa Pavadai, Sheela Kuruvila   +2 more
doaj   +1 more source

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

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

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

Multiple sulfatase deficiency with neonatal manifestation. [PDF]

, 2014
Multiple Sulfatase Deficiency (MSD; OMIM 272200) is a rare autosomal recessive inborn error of metabolism caused by mutations in the sulfatase modifying factor 1 gene, encoding the formylglycine-generating enzyme (FGE), and resulting in tissue ...
Ballabio, A., Bernasconi, S., Braibanti, S., Frattini, D., Gabrielli, O., Galeazzi, T., Garavelli, L., Gargano, G., Gelmini, C., Iori, A., Iughetti, L., Ivanovski, I., Melli, N., Padella, L., Pedori, S., Pepe, S., Rosato, S., Santoro, L., Superti-Furga, A., Wischmeijer, A., Zampini, L.   +20 more
core   +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

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

Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome [PDF]

, 2020
INSERM
openalex   +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

Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis [PDF]

, 2016
Twenty-six families with keratinopathic ichthyoses (epidermolytic ichthyosis, superficial epidermolytic ichthyosis or congenital reticular ichthyosiform erythroderma) were studied.
Betz, Regina C., Blume-Peytavi, Ulrike, Bourrat, Emmanuelle, Fischer, Judith, Hotz, Alrun, Jonca, Nathalie, Markus, Susanne, Mazereeuw-Hautier, Juliette, Morice-Picard, Fanny, Oji, Vmzenz, Schlipf, Nina, Schoenbuchner, Ines, Stieler, Karola   +12 more
core   +3 more sources