Results 71 to 80 of about 1,207 (150)

[Autosomal dominant punctate palmoplantar keratoderma].

Actas dermo-sifiliograficas, 2006
Hereditary punctate palmoplantar keratoderma or Buschke-Fisher-Brauer disease is a rare form of keratoderma that follows a pattern of autosomal dominant inheritance with variable penetrance. The age of onset is usually between 12 and 30 years of age. Clinically, it is characterized by the gradual appearance of multiple punctate hyperkeratotic papules ...
Susana, Mallo, Ana I, Bernal, María Inés, Fernández-Canedo, Carlos, González-Hermoso, Magdalena, de Troya-Martín   +4 more
openaire   +1 more source

Discovery in Genetic Skin Disease: The Impact of High Throughput Genetic Technologies [PDF]

, 2014
The last decade has seen considerable advances in our understanding of the genetic basis of skin disease, as a consequence of high throughput sequencing technologies including next generation sequencing and whole exome sequencing.
Asakawa, Blaydon, Chang, Claire Scott, Dale, David Kelsell, Larregue, Li, Marrakchi, McGrath, Milner, Mitsutake, Paternoster, Sakai, Steven, Strojan, Sudbrak, Thiviyani Maruthappu, Thomas, Tomfohrde, Vohra, Weinstein, Wuepper, Yaghoobi   +23 more
core   +1 more source

Hereditary Painful Callosities Treated with L5 and S1 Pulsed Radiofrequency, Case Report

International Journal of Pain
Hereditary palmoplantar Keratoderma (PPK) varies in presentation, where palm and sole lesions can be diffuse, focal or punctate. There is no specific curative treatment for hereditary PPK, and the resulting pain may significantly strain all aspects of ...
Moustafa Moustafa, Kenneth Kuan Boon Keat, Hari Gopal   +2 more
doaj   +1 more source

Father and daughter with thickened palms and soles in primary care [PDF]

, 2023
Introduction: Palmoplantar keratoderma (PPK) is characterised by excessive thickening of the palms and soles. Hereditary PPK is rare with prevalence in Asia estimated at 1 to 3 per 10,000.
Abdul Hadi, Azwanis, Che Abdul Rahim, Abdul Rahman, Mohd Noor, Asma Amirah   +2 more
core  

Clinical, etiopathogenic, and therapeutic aspects of KID syndrome [PDF]

, 2020
Keratitis-ichthyosis-deafness (KID syndrome) is a syndromes ichthyoses that is clinically and genetically heterogeneous requiring early and long-term multidisciplinary monitoring of affected individuals.
Abdollahi A, Adriana Herrera, Antonio Cárdenas Tadich, Burns FS, Colin Eric Willoughby, Desmons F, Francisco Cammarata‐Scalisi, Michele Callea, Nancy Labrador   +8 more
core   +2 more sources

Clinical Study on Palmoplantar Keratoderma [PDF]

, 2012
INTRODUCTION : Palmoplantar keratodermas are a heterogenous group of disorders characterized by hyperkeratosis of palms and soles. They may be inherited or acquired disorders.
Mohanasundari, P S
core  

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

Skin Health Dis
In this paper, we report the utility and novelty of Wood's light as a bedside adjunct tool to aid in diagnosing aquagenic keratoderma. To our knowledge, this is the first case reporting the use of Wood's light in diagnosing aquagenic keratoderma.
Alkhayal F, AlMuqrin A.
europepmc   +2 more sources

Palmar pits

JEADV Clinical Practice, Volume 3, Issue 3, Page 912-913, July 2024.
Paula Finnegan, Oonagh Molloy
wiley   +1 more source

Punctate Palmoplantar Keratoderma Type 1: A Novel AAGAB Mutation and Efficacy of Etretinate

Acta Dermato Venereologica, 2015
Punctate palmoplantar keratoderma type 1 (PPKP1, OMIM#148600), also known as the Buschke-FischerBraurer type, is a rare form of palmoplantar keratoderma that is autosomal dominantly inherited (1). PPKP1 is clinically characterised by multiple punctate hyperkeratotic papules affecting the palmar and plantar skin, with considerable phenotypic variation ...
Nomura, Toshifumi, Yoneta, Akihiro, Pohler, Elizabeth, Suzuki, Shotaro, Osawa, Rinko, Mizuno, Osamu, Ohguchi, Yuka, Nomura, Yukiko, Yamashita, Toshiharu, McLean, W. H. Irwin, Shimizu, Hiroshi   +10 more
openaire   +4 more sources

Skin disorders affecting the feet [PDF]

, 2015
Skin disorders of the feet can affect the glabrous skin on the dorsal aspects, or the thick skin on the plantar aspects, thereof, or both. Some can affect one foot, and others both of them.
Motswaledi, MH
core   +1 more source