Results 41 to 50 of about 98 (86)

A novel variant of Ehlers‐Danlos‐syndrome with COL1A2 mutation

Journal of the European Academy of Dermatology and Venereology, EarlyView.
Johanna Strobl, Peter Maximilian Heil
wiley   +1 more source

X‐Linked Anhidrotic Ectodermal Dysplasia in A 19‐Year‐Old Male: A Classic Phenotype

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT X‐linked anhidrotic/hypohidrotic ectodermal dysplasia (XLHED), also known as Christ‐Siemens‐Touraine syndrome, is a rare genetic disorder characterized by the abnormal development of ectodermal structures, primarily affecting sweat glands, hair, and teeth. It results from mutations in the Ectodysplasin A (EDA) gene.
Laxman Chapagain, Anumesh Dahal, Pooja Gupta, Prajwal Pudasaini, Upama Paudel   +4 more
wiley   +1 more source

Eritroqueratodermia simétrica progressiva: relato de caso

Anais Brasileiros de Dermatologia, 2003
A eritroqueratodermia simétrica progressiva (EQSP) é genodermatose rara, caracterizada por placas eritematosas e hiperceratóticas fixas, de distribuição simétrica nas extremidades.
Dal Magro Cristiane, Pellenz Carina, Bakos Lucio   +2 more
doaj  

Aspectos clínicos da epidermodisplasia verruciforme Clinical aspects of epidermodysplasia verruciformis

Anais Brasileiros de Dermatologia, 2002
FUNDAMENTOS: A epidermodisplasia verruciforme (EV) é genodermatose rara, caracterizada por infecção disseminada por tipos específicos de vírus papiloma humano (HPV), desenvolvimento de tumores cutâneos malignos e distúrbios imunológicos.
Walmar Roncalli Pereira de Oliveira, Cyro Festa Neto, Stephen K Tyring   +2 more
doaj   +1 more source

Characteristics and outcomes of patients with pediatric‐onset non‐mastocytosis mast cell activation disorders: A CEREMAST study

Pediatric Allergy and Immunology, Volume 37, Issue 5, May 2026.
Abstract Background Mast cell (MC) activation (MCA) disorders (MCAD) include diseases in which MCs excessively release mediators leading to recurrent manifestations of MCA. MCAD encompasses MCA syndrome (MCAS) which is defined by (i) documented systemic symptoms of MCA, (ii) a 20% increase in serum tryptase level from the individual's baseline plus 2 ...
M. Weiss, J. Rossignol, F. Campeotto, E. Foy, C. Elbany, L. Jaume, L. Geroux, O. Debeaupuis, A. Neuraz, L. Bekel, G. Lezmi, N. Bellon, C. Méni, C. Livideanu, M. Madrange, D. Condé, J. Agopian, C. Michot, F. Villard‐Truc, A. Lachaux, C. Greco, S. Hadj‐Rabia, P. Dubreuil, O. Hermine, C. Bodemer, L. Polivka   +25 more
wiley   +1 more source

Successful Treatment of Refractory Disseminated Superficial Actinic Porokeratosis With Topical Ruxolitinib

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT This is the first documented case of disseminated superficial actinic porokeratosis (DSAP) successfully treated with topical ruxolitinib. The patient experienced near‐complete clearance after three months, suggesting that topical JAK inhibition may be an effective and well‐tolerated option for refractory porokeratosis.
Joe Khodeir, Paul Ohanian, Marielena Ohanian   +2 more
wiley   +1 more source

Biomolecular Changes Upon Ablative Laser Therapy of the Skin: A Scoping Review

International Journal of Dermatology, Volume 65, Issue 4, Page 753-762, April 2026.
(Fractional) ablative laser therapy results in a wound healing response characterized by an inflammatory phase, dermal matrix degradation, and remodeling, collagenesis and elastogenesis. This is characterized by an increase in metalloproteinases, collagen type I, III, VII, and tropoelastin.
Marie‐Eline Pauline Henriette Debeuf, Maartje Hendrika Pieternel Rauwenhoff, Michel van Geel, Peter Martin Steijlen, Valerie Lydie Roland Marc Verstraeten   +4 more
wiley   +1 more source

Exploring What Constitutes a Good‐Quality Referral for a Potentially Malignant Skin Lesion: A Modified Delphi Consensus

International Journal of Dermatology, Volume 65, Issue 7, Page 1487-1489, July 2026.
Kristina Nazzicone, Erin Dahlke, Linden Head, Thomas Herzinger, Lourdes Ramírez Hobak, Yuanshen Huang, Menelaos Konstantinidis, Glykeria Martou, Sonja Molin, Douglas R. McKay, Yuka Asai   +10 more
wiley   +1 more source

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

International Journal of Dermatology, Volume 65, Issue 4, Page 797-805, April 2026.
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

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