Results 41 to 50 of about 2,720 (173)

Gene Therapy for Dystrophic Epidermolysis Bullosa

Experimental Dermatology, Volume 35, Issue 8, August 2026.
ABSTRACT Dystrophic epidermolysis bullosa (DEB) is a rare, debilitating genodermatosis caused by loss‐of‐function variants in COL7A1, resulting in type VII collagen (C7) deficiency and defective anchoring fibrils, which are essential for dermal–epidermal adhesion.
Cristina Has, Meropi Karakioulaki
wiley   +1 more source

Atypical Follicular–Pigmentary Variant of Hailey–Hailey Disease: A Diagnostic Dilemma

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Hailey–Hailey disease (HHD) is a rare autosomal dominant acantholytic dermatosis characterized by recurrent erosive plaques in intertriginous areas. Atypical presentations can resemble other acantholytic disorders, making diagnosis challenging. A 38‐year‐old male presented with recurrent pruritic lesions over flexural regions, worsened by heat
Sandesh Shah, Joshana Shrestha, Rabin Baniya, Mohan Bhusal, Krishangi Pradhan, Radhika Maharjan   +5 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

European S2k guidelines on management of autoimmune blistering diseases in children and adolescents

Journal of the European Academy of Dermatology and Venereology, Volume 40, Issue 7, Page 1137-1161, July 2026.
Autoimmune blistering disorders (AIBDs) in children are rare, challenging to diagnose and treat and often require immunosuppressants. Until now, no paediatric care guidelines existed. The EADV Task Force for AIBDs has developed the consensus‐based recommendations, enabling physicians to adopt a uniform, tailored treatment strategy to improve outcomes ...
A. Nanda, B. Tedbirt, C. Bodemer, M. C. Bolling, M. El Hachem, M. Nikolić, E. Benton, M. Caproni, D. De, D. Didona, K. Drenovska, M. Goebeler, M. Hertl, B. Horváth, M. Kasperkiewicz, D. Kiritsi, M. Larralde, A. V. Marzano, J. Meijer, D. F. Murrell, J. Powell, E. Sprecher, N. S. Chandran, M. M. Tomayko, S. Uzun, N. van Beek, H. Ott, A. Patsatsi, A. Torrelo, A. Welfringer‐Morin, E. Schmidt, P. Joly   +31 more
wiley   +1 more source

E‐SSSential questions and 3‐D mnemonic to diagnose dermatologic diseases

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Falk Ochsendorf
wiley   +1 more source

Multiple White Lesions in the Oral Mucosa

Oral Diseases, EarlyView.
Irene Lafuente‐Ibáñez de Mendoza, Alessandra Ortíz‐Alves, José Manuel Sioli‐Durán, José Manuel Aguirre‐Urizar   +3 more
wiley   +1 more source

“Quality of Life in Epidermolysis Bullosa” and “Epidermolysis Bullosa Burden of Disease”: Italian translation, cultural adaptation, and pilot testing of two disease-specific questionnaires

Italian Journal of Pediatrics
Background Inherited epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of skin fragility disorders characterized by blister formation following minor trauma.
May El Hachem, Andrea Diociaiuti, Giovanna Zambruno, Tonia Samela, Francesca Ferretti, Claudia Carnevale, Renata Linertová, Christine Bodemer, Dédée F. Murrell, Damiano Abeni   +9 more
doaj   +1 more source

Clinical Classification of Mosaicism

JEADV Clinical Practice
The term ‘mosaic skin disorders’ encompasses conditions in which the skin is involved by mosaic mutations, including epidermal nevi, vascular nevi, connective tissue nevi and lipomatous nevi, among others.
Andrea Diociaiuti, Teresa Oranges, Eulalia Baselga, May El Hachem   +3 more
doaj   +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

Darier’s Disease: A rare genodermatosis

IP Journal of Diagnostic Pathology and Oncology, 2019
Darier’s disease or darier white disease or keratosis follicularis is a rare inherited autosomal dominant genodermatosis which are clinically characterized by multiple hyperpigmented, firm , greasy, warty lesion usually in seborrhoeic distribution. They also show palmar pits, and mucosal involvement.
Divya V, Sudha V
openaire   +1 more source