Results 21 to 30 of about 1,256 (158)

Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24 [PDF]

Journal of Medical Genetics, 2003
29 páginas, 4 figuras, 1 tabla.Background: The identification of the molecular basis of disorders of keratinisation has significantly advanced our understanding of skin biology, revealing new information on key structures in the skin, such as the ...
Martínez Mir, Amalia, Zlotogorski, Abraham, Londono, Douglas, Gordon, Derek, Grunn, A., Uribe, E., Horev, Liran, Ruiz, I. M., Davalos, N. O., Alayan, O., Liu, Jianjun, Gilliam, T. Conrad, Salas-Alanis, J. C., Christiano, Angela M.   +13 more
core   +5 more sources

Hereditary Punctate Palmoplantar Keratoderma in Three Generations. [PDF]

Indian Dermatol Online J, 2023
Dani I, Passi S, Ramesh V.
europepmc   +3 more sources

Management of Pitted Keratolysis- A Rare Dermatological Condition [PDF]

Journal of Clinical and Diagnostic Research, 2023
Pitted keratolysis, a skin condition that damages the stratum corneum of the arch of the foot, is caused by gram positive bacteria. Responsible agents include Dermatophiluscongolensis, Corynebacterium sp., and Micrococcus sedentarius.
Aman Chhabra, Vaishali Kuchewar, Twinkle Joshi   +2 more
doaj   +1 more source

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

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

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

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

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