Results 61 to 70 of about 6,899 (169)

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

Palmoplantar keratoderma and Charcot-Marie-Tooth disease.

, 1980
A close association was noted between palmoplantar keratoderma (PPK) and Charcot-Marie-Tooth disease (CMT) in nine members of a family in five generations. Clinical, genealogic, electroneurophysiologic, chromosome, urinary amino acid, and histopathologic
V. Cosi, P. Pinelli, BORRONI, GIOVANNI, G. Rabbiosi   +3 more
core   +1 more source

Atypical Presentation of Papillon–Lefèvre Syndrome: A Case of Isolated Cutaneous Manifestations Without Dental Involvement

Reports
Background and Clinical Significance: Papillon–Lefèvre syndrome (PLS) is an autosomal recessive genetic skin disorder. Genetic studies have demonstrated that mutations in the Cathepsin-C (CTSC) gene, mapped to chromosome 11q14.1–q14.3, are responsible ...
Mishari Alrubaiaan, Mansour Almutairi, Waleed Alajroush   +2 more
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

Spiny Keratoderma Palmar que precedeu o Diagnóstico de Micose Fungóide: Uma Nova Associação Paraneoplásica? [PDF]

, 2016
Spiny keratoderma is a rare dermatosis of unknown etiology that has been described with both hereditary and acquired variants. The acquired form has been associated with underlying malignancy and systemic diseases.
Paulo Leal Filipe, Luís Soares-Almeida, Teixeira, Ana Isabel, Leal Filipe, Paulo, Soares-Almeida, Luís, Ana Isabel Teixeira   +5 more
core   +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

Two‐Year Follow‐Up of Ectodermal Dysplasia‐Syndactyly Syndrome 1 in a Palestinian Child Successfully Treated With Topical Minoxidil and Tretinoin: A Case Report

Clinical Case Reports, Volume 14, Issue 6, June 2026.
Clinical timeline of the reported EDSS1 case, illustrating disease onset, diagnostic milestones, treatment initiation, treatment modifications, and longitudinal response to combined topical minoxidil and tretinoin therapy from infancy through the last follow‐up.
Bana O. Aburajab, Hamza M. A. Ghaith, Nada Ishti, Muawia O. Aburajab   +3 more
wiley   +1 more source

Acroqueratoelastoidosis de Costa: reporte de un caso esporádico

Medicina U.P.B., 2019
La acroqueratoelastoidosis de Costa es una rara genodermatosis autosómica dominante con expresividad variable, que se caracteriza por la presencia de múltiples pápulas hiperqueratósicas en la zona marginal de las manos, los pies o ambas.
Lina María Muñoz Ochoa, Melissa María Velilla Contreras, Jaime Ávila Cárdenas, José Manuel Ríos-Yuil   +3 more
doaj   +1 more source

Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1

International Journal of Developmental Neuroscience, Volume 86, Issue 3, May 2026.
A de novo ELOVL1 variant causes syndromic spastic paraparesis with congenital ichthyosis, cerebellar signs and white matter abnormalities. Long‐term clinical and MRI follow‐up showed mild motor and neuroradiological progression with preserved intelligence and subtle cognitive efficiency decline, supporting the hypothesis of a primary neuronal disease ...
Ylenia Vaia, Eleonora Mura, Fabio Bruschi, Stefania Zambrano, Michela Brena, Gianluca Tadini, Filippo Arrigoni, Clara E. Antonello, Carla Uggetti, Cecilia Parazzini, Pierangelo Veggiotti, Davide Tonduti   +11 more
wiley   +1 more source

Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma [PDF]

IMPORTANCE: Palmoplantar keratoderma poses diagnostic challenges due to its clinical and genetic heterogeneity, and knowledge on the value of systematic genetic testing on clinically well-described patient cohorts is sparse.OBJECTIVE: To improve ...
Brusgaard, Klaus, Sleire, Sondre Olai Kjellevold, Gram, Stine Bjørn; id_orcid, Bach, Rasmus, Ousager, Lilian Bomme; id_orcid, Vinding, Gabrielle Randskov, Fast, Sanne Pedersen, Lei, Ulrikke, Christensen, Alex Hørby, Sommerlund, Mette, Bygum, Anette; id_orcid   +10 more
core   +1 more source