Results 41 to 50 of about 8,727 (222)
Molecular Basis and Clinical Spectrum of WNT10A‐Related Oligodontia
Clinical Genetics, EarlyView.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 +5 more
wiley +1 more source
Palmoplantar keratoderma climactericum successfully treated with topical oestrogen
JEADV Clinical PracticeKeratoderma climactericum is characterized by palmoplantar hyperkeratosis developing after the onset of menopause. Although rare, keratoderma climactericum can profoundly impact quality of life and may be refractory to prescription‐strength topical ...
T. E. Norman +3 more
doaj +1 more source
Papillon- Lefèvre Syndrome: report of a case and its management [PDF]
, 2012 Papillon-Lefèvre Syndrome (PLS) is a rare autosomal recessive disorder first described by two French physicians, Papillon and Lefèvre in 1924. The disorder is characterized by diffuse palmoplantar keratoderma and precocious aggressively progressing ...
Kalra, Namita +2 more
core +1 more source
Mapping malignant T‐cell states and immune circuits in Sézary syndrome by single‐cell analysis
Journal of the European Academy of Dermatology and Venereology, EarlyView.Peripheral blood single‐cell RNA‐seq from leukaemic CTCL defined three malignant T‐cell programmes: MTC CM, MTC Reg and MTC E/EM, each with distinct features and candidate vulnerabilities. For example, inferred immune circuits highlighted actionable IL‐10/JAK–TYK2–STAT3 signalling, KIR–MHC I inhibitory interactions and myeloid/B‐cell inflammatory and ...
Beth A. Childs +6 more
wiley +1 more source
Annular epidermolytic ichthyosis: a case report and literature review, [PDF]
Anais Brasileiros de Dermatologia, 2020 Annular epidermolytic ichthyosis is a rare subtype of epidermolytic ichthyosis that is characterized by erythematous, polycyclic, and migratory scaly plaques accompanied by palmoplantar keratoderma. This report presents the case of an 8-year-old girl who
Emanuella Stella Mikilita +3 more
doaj +2 more sources
An analysis of oral biopsies extracted from 1995 to 2009, in an oral medicine and surgery unit in Galicia (Spain) [PDF]
, 2011 Objective: To conduct an analysis of the frequency of oral lesions in biopsies over a 14-year period in the Oral Medicine, Oral Surgery and Implantology Unit.
Diniz Freitas, Márcio +4 more
core +1 more source
Journal of the European Academy of Dermatology and Venereology, EarlyView.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 +8 more
wiley +1 more source
The Deafness-Associated Mitochondrial DNA Mutation at Position 7445, Which Affects tRNASer(UCN) Precursor Processing, Has Long-Range Effects on NADH Dehydrogenase Subunit ND6 Gene Expression [PDF]
, 1998 The pathogenetic mechanism of the deafness-associated mitochondrial DNA (mtDNA) T7445C mutation has been investigated in several lymphoblastoid cell lines from members of a New Zealand pedigree exhibiting the mutation in homoplasmic form and from control
Attardi, Giuseppe +6 more
core +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 +11 more
wiley +1 more source
Generalized Papulosquamous Skin Eruption in a Teenager After COVID‐19 Booster [PDF]
Clin Case RepGeneralized papulosquamous skin eruption following COVID‐19 booster administration. ABSTRACT Reports of pityriasis rubra pilaris (PRP) occurring after COVID‐19 vaccination continue to emerge, thus it is important to maintain a high index of suspicion for PRP in patients with new‐onset cutaneous symptoms postvaccination.
Lin A, Borda L, Marks K.
europepmc +2 more sources