Results 51 to 60 of about 2,708 (203)

Molecular Changes Induced by Carbon Dioxide Laser in Hailey‐Hailey Disease: A Potential Mechanism Underlying Treatment Efficacy

International Journal of Dermatology, EarlyView.
ABSTRACT Introduction Hailey‐Hailey disease (HHD) is a rare genodermatosis caused by mutations in the ATP2C1 gene that codes for SPCA1, a calcium transporter in the epidermis. HHD impairs quality of life, and no curative treatment exists. Methods To confirm the efficacy and safety of CO2 laser in HHD, we conducted a randomized, prospective, controlled ...
Javier Antoñanzas, Agustín España, Ana Gorostidi, Ana Patiño‐García, Marcos J. Araúzo‐Bravo, Daniela Gerovska, Rafael Salido‐Vallejo, Leyre Aguado‐Gil   +7 more
wiley   +1 more source

Brooke–Spiegler Syndrome With Simultaneous Occurrence of Cylindroma, Spiradenoma, and Trichoepithelioma: A Rare Case With Malignant Progression

Clinical Case Reports, Volume 13, Issue 12, December 2025.
ABSTRACT Brooke–Spiegler syndrome (BSS) is a rare autosomal dominant disorder characterized by multiple adnexal tumors. Malignant transformation is uncommon, and the simultaneous occurrence of cylindroma, spiradenoma, and trichoepithelioma with progression to basal cell carcinoma (BCC) has rarely been documented.
Parastou Gorovanchi, Mohammed Busehail, Ehsan Emami, Masooma Yaqoob, Mahsa Faramin Lashkarian, Nima Khalili, Nima Eftekhari, Sepideh Hadimaleki, Bahareh Mehramouz   +8 more
wiley   +1 more source

Incontinentia pigmenti: multisistemic genodermatosis.

Boletin medico del Hospital Infantil de Mexico, 2021
Incontinentia pigmenti is an X-linked genodermatosis generally lethal in males; thus, it presents almost exclusively in females. It is caused by a loss-of-function mutation in the IKBKG (inhibitor of kappa polypeptide gene enhancer in B cells, kinase gamma) gene that prevents the NFкβ (nuclear factor kappa-light-chain-enhancer of activated B cells ...
Adrián, Martínez-Gayosso, María T, García-Romero   +1 more
openaire   +1 more source

Xeroderma Pigmentosum Variant Type, a Genodermatosis With Long‐Term Survival

JEADV Clinical Practice, EarlyView.
Perez‐Romero Ana Gabriela, Aceves‐Villalvazo Martha Alicia, De Dios‐Aceves Erick Magnus   +2 more
wiley   +1 more source

Mimicking Darier Disease In Vitro: A Human Epidermal Organoid Approach

Experimental Dermatology, Volume 34, Issue 12, December 2025.
ABSTRACT Darier disease (DD) is a rare genetic disorder caused by mutations in the ATP2A2 gene, resulting in calcium dysregulation and impaired keratinocyte adhesion. Due to the paucity of suitable models, understanding the molecular mechanisms of DD has been challenging.
Rishika Agarwal, Erika Parente, Simon M. Müller, Elisabeth A. Kappos, Tanja Dittmar, Michael Kunz, Roni P. Dodiuk‐Gad, Nisim Asayag, Johann E. Gudjonsson, Beda Mühleisen, Emmanuel Contassot, Alexander A. Navarini   +11 more
wiley   +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

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

Incontinentia pigmenti with neurologic and oculodental disorders

Indian Journal of Paediatric Dermatology, 2016
Incontinentia pigmenti is a genodermatosis with X-linked dominant inheritance, characterized by cutaneous, neurologic, ophthalmologic, and dental abnormalities with a pattern suggestive of somatic mosaicism.
Jorge Arturo Avina Fierro, Daniel A Hernandez Avina   +1 more
doaj   +1 more source

Perceptions of a Group of Experts on the Integration of Artificial Intelligence in the Management of Atopic Dermatitis

JEADV Clinical Practice, EarlyView.
Jean‐Francois Stalder, Valeria Aoki, Helène Aubert, Sebastian Barbarot, Chia‐Yu Chu, Mette Deleuran, Lawrence Eichenfield, May El Hachem, Laurent Elgard, Raquel Leão Orfali, Ana Mosca, Olivia Negris, Marketa Saint Aroman, Pranvera Sulejmani, Alain Taieb, Antonio Torrelo, David Troya, Magdalena Trzeciak, Christian Vestergaard, Andreas Wollenberg, Peter Lio   +20 more
wiley   +1 more source

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 more
wiley   +1 more source