Results 21 to 30 of about 5,055 (182)
Schopf–Schulz–Passarge syndrome
Indian Dermatology Online Journal, 2018 Schopf–Schulz–Passarge syndrome (SSPS) is a rare type of ectodermal dysplasia that has autosomal recessive inheritance. It is characterized by palmoplantar keratoderma, hypodontia, hypotrichosis, nail dystrophy, and multiple periocular and eyelid ...
Kinjal D Rambhia +3 more
doaj +1 more source
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 +3 more
doaj +1 more source
The Journal of Pathology, EarlyView.Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan +9 more
wiley +1 more source
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
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
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
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
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
Olmsted syndrome with lateral supraciliary madarosis and clubbing: A rare case report
Indian Dermatology Online Journal, 2018 Olmsted syndrome (OS) is a rare congenital, mutilating palmoplantar keratoderma first described by Olmsted in 1927. It starts in the neonatal period or in childhood, and has a slow but progressive disabling course. We report the case of a 16-year-old boy
Md Zeeshan +2 more
doaj +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