Results 41 to 50 of about 6,541 (219)
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
Papillon Lefevre syndrome: bridge between Dermatologist and Dentist [PDF]
, 2010 Papillon-Lefevre syndrome is a rare autosomal recessively inherited condition which shows features common to both dentistry and dermatology. This disease is characterized by palmoplantar hyperkeratosis and severe periodon- titis.
Brar, Rajdeep +3 more
core +1 more source
A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia [PDF]
, 2014 IMPORTANCE: Olmsted syndrome (OS) is a rare keratinizing disorder characterized by excessive epidermal thickening of the palms and soles, with clinical and genetic heterogeneity.
Bodemer, Christine +7 more
core +1 more source
Severe hereditary punctate palmoplantar keratoderma (Brauer-Buschke-Fischer syndrome)
Przegląd Dermatologiczny, 2015 Introduction. Keratoderma of the hands and feet is a chronic disorder of epidermal keratinization, which consists of many various forms. Objective. To present a case of a 54-year-old woman with severe hereditary punctate palmoplantar keratoderma.
Dorota Jaśkiewicz-Nyckowska +3 more
doaj +1 more source
Vohwinkel syndrome: ichthyosiform variant in a family [PDF]
Anais Brasileiros de Dermatologia, 2018 : Vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal dominant inheritance. In this report, the authors present a case of a four-year-old boy with diffuse scaling over his entire body and transgredient ...
Clarissa Prieto Herman Reinehr +2 more
doaj +1 more source
A global perspective of arrhythmogenic right ventricular cardiomyopathy. [PDF]
, 2012 Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a progressive inherited heart disease characterized by ventricular arrhythmias and sudden cardiac death especially in the young. ARVC has been traditionally associated with the Mediterranean basin,
Alhashemi, M +3 more
core +1 more source
Juvenil Pityriasis Rubra Pilaris: A Case Report [PDF]
Düzce Tıp Fakültesi Dergisi, 2010 Juvenile pityriasis rubra pilaris (PRP) is an uncommon skin disease characterized by follicularkeratotic papules, erythemato-squamous plaques and palmoplantar keratoderma. Etyology isunknown.
M. Emin YANIK et al. +2 more
doaj
, 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 +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
Naxos disease: Cardiocutaneous syndrome due to cell adhesion defect [PDF]
, 2006 Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.
Protonotarios Nikos +1 more
core +1 more source