Results 71 to 80 of about 5,748 (201)

Congenital Recessive Ichthyosis Unlinked to Loci for Epidermal Transglutaminases

, 1996
Congenital recessive ichthyosis has a broad range of clinical presentations, which may be considered a spectrum of phenotypes with classic lamellar ichthyosis at one pole and classic congenital ichthyosiform erythroderma at the other.
Compton, John G., Lee, Minjoo L., DiGiovanna, John J., Russell, Laura J., Bale, Sherri J.   +4 more
core   +1 more source

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

Acta Paediatrica, Volume 115, Issue 5, Page 1015-1024, May 2026.
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol, Mariam Sbeity Barakat, Marjolaine Willems, Tasnime Akbaraly, Biron‐Andreani Christine, Isabelle Diaz, Alexandre Theron   +6 more
wiley   +1 more source

Recurrent Congenital Ichthyosis in Newborn: A Case Report

, 2013
Ichthyosis refers to a relatively uncommon group of skin disorders characterized by the presence of excessive amounts of dry surface scales. It can be congenital or acquired.
Verma, Jyotsna, Patil, Pooja, Patil, Abhijit, Ghosh, Gopa   +3 more
core   +1 more source

Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian patients [PDF]

, 2018
Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) due to transglutaminase-1 gene (TGM1) mutations leading to a temperature sensitive phenotype.
Pulimood, Susanne, Valentin, Frederic, Thomas, Meera, Wiegmann, Henning, Sathishkumar, Dharshini, Peter, Dincy, Oji, Vinzenz, Hennies, H. C.   +7 more
core   +1 more source

Dupilumab for Trichothiodystrophy—Case Report and Review of the Literature

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Trichothiodystrophy (TTD) arises from pathogenic changes in several genes, most of which participate in DNA repair or transcriptional and translational processes. Atopic dermatitis may accompany TTD in a minority of cases. Dupilumab can offer a safe and effective treatment option for severe atopic dermatitis in this population.
Julia O'Mahony, Cathal O'Connor
wiley   +1 more source

Collodion Baby with TGM1 gene mutation

International Medical Case Reports Journal, 2015
Deepak Sharma,1 Basudev Gupta,2 Sweta Shastri,3 Aakash Pandita,1 Smita Pawar4 1Department of Neonatology, Fernandez Hospital, Hyderguda, Hyderabad, Andhra Pradesh, 2Department of Pediatrics, Civil Hospital, Palwal, Haryana, 3Department of Pathology, NKP ...
Sharma D, Gupta B, Shastri S, Pandita A, Pawar S   +4 more
doaj  

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

Bullae and Scales in a Newborn

JEADV Clinical Practice, Volume 5, Issue 2, Page 719-721, June 2026.
Hamad El Hajj, Dima Jeha, Andre Megarbane, Hala Megarbane   +3 more
wiley   +1 more source

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens, Maria Mudau, Fahmida Essop, Amanda Krause   +3 more
wiley   +1 more source

A rare case of ocular pterygium in a young boy with congenital lamellar ichthyosis

Indian Journal of Ophthalmology. Case Reports
Congenital lamellar ichthyosis is a rare dermato-ocular disease occurring in 1:300,000 population and is autosomal recessive. The most common ocular manifestation reported is cicatricial ectropion.
Shubratha S Hegde, Sandhya Dharwadkar, K Athira, Harsha Shaji   +3 more
doaj   +1 more source