Results 31 to 40 of about 3,963 (177)

Cutis Verticis Gyrata Across the Diagnostic Spectrum: Two Cases Highlighting Challenges in Clinical Classification

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Cutis verticis gyrata (CVG) is an uncommon disorder characterized by cerebriform thickening of the scalp that may occur as a primary condition or secondary to a variety of systemic disorders. We report two patients with clinically distinct presentations of CVG illustrating the diagnostic challenges encountered during classification.
Sanket Bishokarma, Shiwani Sharma Acharya, Goma Dhami   +2 more
wiley   +1 more source

Deafness, palmoplantar hyperkeratosis, and knuckle pads with male-to-male transmission: Bart-Pumphrey syndrome

Genetics and Molecular Biology, 2003
We report on a 22-year-old male patient and his father, both presenting with congenital sensorineural deafness, diffuse palmoplantar keratoderma and knuckle pads.
Gisele Viana de Oliveira, Carlos Eduardo Steiner, Maria Letícia Cintra, Antonia Paula Marques-de-Faria   +3 more
doaj   +1 more source

Cutaneous T‐cell lymphomas and dupilumab for atopic dermatitis: A systematic review and expert consensus

Journal of the European Academy of Dermatology and Venereology, Volume 40, Issue 8, Page 1344-1358, August 2026.
Systematic review (51 studies; 547 patients) indicates dupilumab may unmask/worsen CTCL (mainly MF/SS). A French Delphi consensus recommends rigorous diagnostic workup, avoiding dupilumab in confirmed CTCL, discontinuing upon diagnosis, and favouring methotrexate or phototherapy.
Florent Amatore, Madeleine Neildez, Adèle de Masson, Maxime Battistella, Marie Tauber, Saskia Ingen‐Housz‐Oro, Catherine Droitcourt, Delphine Staumont‐Sallé, Marie Beylot‐Barry   +8 more
wiley   +1 more source

Diagnosis and Management of Inherited Palmoplantar Keratodermas

Acta Dermato-Venereologica, 2020
Inherited monogenic palmoplantar keratodermas are a heterogeneous group of conditions characterised by persistent epidermal thickening of the palmoplantar skin.
Bjorn R. Thomas, Edel A. O'Toole
doaj   +1 more source

Autoantibodies in Patients With Arrhythmogenic Cardiomyopathy Activate GSK‐3β, Resulting in a Loss of Cardiomyocyte Cohesion

Acta Physiologica, Volume 242, Issue 7, July 2026.
ABSTRACT Background Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac desmosome disease, as more than 50% of affected patients carry pathogenic variants in desmosome protein‐coding genes. In this study, we focused on the role and mechanisms of pathogenic and non‐pathogenic autoantibodies against intercalated disc (ICD) proteins such as ...
Soumyata Pathak, Konstanze Stangner, Ellen Kempf, Sina Moztarzadeh, Matthias Hiermaier, Stephanie Wider, Marlene Rauschmayer, Tatjana Williams, Andreas Stengl, Brenda Gerull, Ruth Biller, Sebastian Clauss, Stefan Kääb, Tomo Šarić, Sunil Yeruva, Jens Waschke   +15 more
wiley   +1 more source

Molecular Basis and Clinical Spectrum of WNT10A‐Related Oligodontia

Clinical Genetics, Volume 110, Issue 1, Page 3-14, July 2026.
Cellular Mechanism behind WNT10A phenotypes. ABSTRACT WNT10A mutations, a major genetic determinant of dental agenesis and ectodermal dysplasia, exert profound effects on craniofacial development. Although classified as rare disorders, these mutations account for more than half of oligodontia cases, reflecting their critical role.
Perennes Elise, Benkirane‐Jessel Nadia, Anton Nicolas, Vandamme Thierry, Clauss François, Conzatti Guillaume   +5 more
wiley   +1 more source

Mutilating keratoderma with concomitant alopecia and keratoses follicularis spinulosa decalvans: X-linked olmsted syndrome and its response to isotretinoin

Indian Dermatology Online Journal, 2017
We report a case of mutilating keratoderma with alopecia and keratoses follicularis spinulosa decalvans (KFSD), which was initially diagnosed as ectodermal dysplasia and Olmsted syndrome but was revisited as a case of X-linked Olmsted (XLO) syndrome.
Gunjan Verma, Kabir Sardana, R K Gautam
doaj   +1 more source

SLURP2 Enlarges Adipocytes and Induces IL‐23‐Producing Macrophages in Murine Dermal Adipose Tissue

Experimental Dermatology, Volume 35, Issue 7, July 2026.
ABSTRACT Dermal adipocytes have unique features different from visceral and subcutaneous adipocytes. Their cyclic remodelling is coupled with hair follicle (HF) cycling: expansion in the anagen and reduction in the catagen stages. Secreted Ly6/uPAR related protein 2 (SLURP2) is a non‐neuronal transmitter and a ligand of both nicotinic and muscarinic ...
Hitomi Tsuji, Tomotaka Mabuchi
wiley   +1 more source

Safety of Dupilumab and Risk of Cutaneous T‐Cell Lymphoma in Pediatric Patients With Atopic Dermatitis: A Data‐Driven Guide to Counseling Patients and Families

Pediatric Dermatology, Volume 43, Issue 4, Page 793-799, July/August 2026.
ABSTRACT Recent publications reporting increased cutaneous T‐cell lymphoma (CTCL) risk with dupilumab in atopic dermatitis (AD) have sparked debate, amplified by media coverage linking dupilumab to lymphoma. These concerns have reached pediatric populations, where we observe increasing parental hesitancy about initiating dupilumab for their children ...
Maria Gnarra Buethe, Tyler Sy, Lawrence F. Eichenfield   +2 more
wiley   +1 more source

Ectodermal dysplasia-skin fragility syndrome: A rare case report

Indian Journal of Dermatology, 2015
Ectodermal dysplasia/skin fragility syndrome (ED-SFS) is a newly described autosomal recessive disorder characterized by skin fragility and blistering, palmoplantar keratoderma, abnormal hair growth, nail dystrophy, and occasionally defective sweating ...
Subhash Kashyap, Vinay Shanker, Neelam Sharma   +2 more
doaj   +1 more source