Results 41 to 50 of about 8,647 (203)
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
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
, 2005 Since 1995, according to the World Health Organisation’s classification of cardiomyopathies, Naxos disease has been considered as the recessive form of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C).1 It is a stereotype association of
Protonotarios, Nikos +1 more
core +2 more sources
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
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
Pediatric Dermatology, EarlyView.ABSTRACT Erythrokeratodermia cardiomyopathy (EKC) syndrome is a rare autosomal dominant disorder characterized by generalized erythrokeratoderma and progressive dilated cardiomyopathy, caused by pathogenic variants in the SR6 domain of desmoplakin (DSP).
Sepideh Hamzehlou +7 more
wiley +1 more source
Role of genetic aspect in pathogenesis of atopic dermatitis [PDF]
, 2013 The pathogenesis of atopic dermatitis (AD) is a very complicated process that involves an intricate array of molecules. Nowadays it is generally accepted that cytokines play an important role in the progression of the clinical presentation of atopic ...
Wesserling Martyna
core +1 more source
A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis [PDF]
, 1996 6 páginas, 2 figuras.A newly defined form of inherited hair loss, named localized autosomal recessive hypotrichosis (LAH, OMIM 607903), was recently described in the literature (Kljuic et al. 2003a; Rafique et al.
Moss, Celia +5 more
core +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 407-418, February 2026.ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen +10 more
wiley +1 more source
Journal of Indian Academy of Oral Medicine and Radiology, 2009 Papillon-Lefevre syndrome (PLS) is a very rare syndrome of autosomal recessive inheritance characterized by palmar-plantar hyperkeratosis and early onset of a severe destructive periodontitis, leading to premature loss of both primary and permanent ...
S Sujatha, Namita Raghav
doaj +1 more source