Results 21 to 30 of about 1,207 (150)

Focal acral hyperkeratosis with response to acitretin [PDF]

JAAD Case Reports
Meghan R. Mansour, MD, Daniel Wenzel, MD, Lori Lowe, MD, Severine Cao, MD   +3 more
doaj   +2 more sources

Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. [PDF]

Am J Hum Genet, 2012
Punctate palmoplantar keratodermas (PPKPs) are rare autosomal-dominant inherited skin diseases that are characterized by multiple hyperkeratotic plaques distributed on the palms and soles. To date, two different loci in chromosomal regions 15q22-15q24 and 8q24.13-8q24.21 have been reported. Pathogenic mutations, however, have yet to be identified.
Giehl KA, Eckstein GN, Pasternack SM, Praetzel-Wunder S, Ruzicka T, Lichtner P, Seidl K, Rogers M, Graf E, Langbein L, Braun-Falco M, Betz RC, Strom TM.   +12 more
europepmc   +6 more sources

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. [PDF]

Nat Genet, 2012
Palmoplantar keratodermas (PPKs) are a group of disorders that are diagnostically and therapeutically problematic in dermatogenetics. Punctate PPKs are characterized by circumscribed hyperkeratotic lesions on the palms and soles with considerable heterogeneity. In 18 families with autosomal dominant punctate PPK, we report heterozygous loss-of-function
Pohler E, Mamai O, Hirst J, Zamiri M, Horn H, Nomura T, Irvine AD, Moran B, Wilson NJ, Smith FJ, Goh CS, Sandilands A, Cole C, Barton GJ, Evans AT, Shimizu H, Akiyama M, Suehiro M, Konohana I, Shboul M, Teissier S, Boussofara L, Denguezli M, Saad A, Gribaa M, Dopping-Hepenstal PJ, McGrath JA, Brown SJ, Goudie DR, Reversade B, Munro CS, McLean WH.   +31 more
europepmc   +7 more sources

Hereditary palmoplantar keratoderma - phenotypes and mutations in 64 patients [PDF]

, 2021
Background Hereditary palmoplantar keratodermas (PPK) represent a heterogeneous group of rare skin disorders with epidermal hyperkeratosis of the palms and soles, with occasional additional manifestations in other tissues.
Blaydon DC, Bonifas JM, Elhaji Y, Fischer J, Fishilevich S, Giehl KA, Giehl KA, Guerra L, Guerra L, Hannula‐Jouppi K, Harjama L, Has C, Knöbel M, Kobayashi S, Kroigard AB, Kubo A, Li M, Lim ET, Lind L, Mandelker D, On HR, Patel S, Pohler E, Reis A, Szeverenyi I, Takeichi T, Toriello HV, Yang JM, Yin J, Zhao L   +29 more
core   +1 more source

Acquired punctate palmoplantar keratoderma following Programmed cell death protein 1 inhibitor therapy

JAAD Case Reports
Nandini Sarkar, BS, Janina Markidan, MD, Mark Gibbs, MD, Klaus Helm, MD   +3 more
doaj   +2 more sources

Clinical and Histopathological Findings in Palmoplantar Lichen Planus Presenting as Diffuse Keratoderma. [PDF]

Dermatol Pract Concept
Avallone G, di Corteranzo IG, Senetta R, Roccuzzo G, Quaglino P, Ribero S.   +5 more
europepmc   +3 more sources

Identification of distinct mutations in AAGAB in families with type 1 punctate palmoplantar keratoderma. [PDF]

J Invest Dermatol, 2014
The article is describing mutations of causative gene for punctate palmoplantar keratoderma type I.
Furniss M, Higgins CA, Martinez-Mir A, Horev L, Petukhova L, Stanimirović A, Miljković J, Zlotogorski A, Christiano AM.   +8 more
europepmc   +7 more sources

Cutaneous manifestations and treatment of arsenic toxicity: A systematic review

Skin Health and Disease, Volume 3, Issue 4, August 2023., 2023
This article reviews the clinical spectrum of malignant and non‐malignant presentations of chronic arsenic toxicity. Abstract Cutaneous and systemic signs of acute and chronic arsenic poisoning may be vague. Thus, an awareness of these signs is crucial to prevent late or missed diagnoses.
Gia Toan Tang, Joshua Elakis, Laura Scardamaglia   +2 more
wiley   +1 more source

Porokeratotic adnexal ostial nevus: A paradigm of cutaneous mosaicism

Clinical Case Reports, Volume 10, Issue 4, April 2022., 2022
Porokeratotic adnexal ostial nevus (PAON) encompasses porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus. Somatic mutations in GJB2 have been identified as causative in PAON, representing a mosaic form of keratosis ichthyosis deafness (KID) syndrome. Abstract Porokeratotic adnexal ostial nevus (PAON) is
Lisa Kiely, Sarah Ni Mhaolcatha, Jim Fitzgibbon, Lesley‐Ann Murphy, Cathal O’Connor   +4 more
wiley   +1 more source

Diagnosis and Management of Inherited Palmoplantar Keratodermas

Acta Dermato-Venereologica, 2020
Inherited monogenic palmoplantar keratodermas are a heterogeneous group of conditions characterised by persistent epidermal thickening of the palmoplantar skin.
Bjorn R. Thomas, Edel A. O'Toole
doaj   +1 more source