Results 101 to 110 of about 8,727 (222)

Bullous Congenitalichthyosiform Erythroderma - PS 1 Type

Indian Journal of Dermatology, 2003
We describe a case of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis) with severe transgradient type of palmoplantar keratoderma. It occurred in a thirty year old man, who was born out of first degree consanguineous marriage.
Dave Shriya, Rakhesh S. V, Thappa Devinder Mohan   +2 more
doaj  

Örökletes és immunológiai bőrgyógyászati kórképek epidemiológiai és molekuláris genetikai vizsgálata = Epidemiological and molecular genetic study of the inherited and immunodermatological diseases [PDF]

, 2009
Örökletes bőrgyógyászati megbetegedések: A genetikai hátterű bőrgyógyászati betegségek között kiemelt jelentőségű az epidermolysis bullosa (EB) csoport.
Medvecz, Márta
core  

New-onset acrokeratoelastoidosis in an immunosuppressed patient

JAAD Case Reports, 2018
Aamir Hussain, BA, Ashley Jenkins, MD, Ashley Feneran, DO, Farah Abdulla, MD   +3 more
doaj   +1 more source

A Case Report of Keratoderma and Bilateral Deafness

پزشکی بالینی ابن سینا, 2014
Introduction: Various inherited or acquired disorders are characterized by palmoplantar kera-toderma hyperkeratosis of hands and feet, and when accompanied with deafness indicates mutations in the gene encoding connexin -26 or a particular mutation ...
Gholamreza Eshghi, Heshmatollah Babaie, Hasan Faghani   +2 more
doaj  

Beyond the Common Causes of Palmoplantar Keratoderma: Papillon–Lefevre Syndrome with a Unique Mutation

Clinical Dermatology Review
Papillon–Lefevre syndrome is a rare autosomal recessive type of syndromic palmoplantar keratoderma, associated with ectodermal dysplasia. It is also known as keratoderma with periodontitis.
Sanjanaa Srinivasa, Sumedha Ballal, Preetha Tilak, Savitha Murali, Madhukara Jithendriya   +4 more
doaj   +1 more source

Gonorrhoeic keratoderma

Kazan medical journal, 1927
The author describes keratoderma in a patient with gonorrhoeal knee and ankle joint disease.
openaire   +1 more source

Richner-Hanhart Syndrome (Tyrosinemia Type II) A Case Report of Delay Diagnosis with Hyperkeratotic Lesions of Palmes and Soles

پزشکی بالینی ابن سینا, 2014
Introduction: Richner-Hanhart syndrome (tyrosinemia type II) is a rare autosomal recessive disease associated with high serum tyrosine levels caused by the deficiency of tyrosine ami-notransferase enzyme.
Zahra Alian
doaj  

Wood's light as a noval diagnostic tool in aquagenic keratoderma

Skin Health and Disease
Aquagenic keratoderma, also known as aquagenic wrinkling of the palms, transient reactive papulotranslucent acrokeratoderma, or transient aquagenic hyper‐wrinkling, is an uncommon disorder that affects the palms and occasionally the soles.
Fares A. Alkhayal, Abdullah M. AlMuqrin
doaj   +1 more source

Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis [PDF]

, 2016

core   +1 more source

Is arrhythmogenic right ventricular cardiomyopathy a paediatric problem too? [PDF]

, 2001
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that is often familial, characterized by arrhythmias of right ventricular origin, due to transmural fatty or fibrofatty replacement of atrophic myocardium. ARVC is usually
Basso, Cristina, Daliento, Luciano, Nava, Alessandra, Thiene, Gaetano, Turrini, P.   +4 more
core