Results 51 to 60 of about 14,748 (240)
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
JAMA dermatology, 2020 Importance Olmsted syndrome is a genodermatosis characterized by painful and mutilating palmoplantar keratoderma (PPK) that progresses from infancy onward and lacks an effective treatment.
C. Greco +7 more
semanticscholar +1 more source
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
Clathrin Adaptor Complex-interacting Protein Irc6 Functions through the Conserved C-Terminal Domain. [PDF]
, 2019 Clathrin coats drive transport vesicle formation from the plasma membrane and in pathways between the trans-Golgi network (TGN) and endosomes. Clathrin adaptors play central roles orchestrating assembly of clathrin coats.
Costaguta, Giancarlo +2 more
core +2 more sources
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
Nivolumab Induced Palmoplantar Keratoderma [PDF]
Indian Dermatology Online JournalSingamsetty Sushma +3 more
doaj +2 more sources
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
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
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
, 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