Results 41 to 50 of about 4,297 (152)

Abnormal Cornified Cell Envelope Formation in Mutilating Palmoplantar Keratoderma Unrelated to Epidermal Differentiation Complex [PDF]

open access: yes, 1998
Mutilating palmoplantar keratoderma represents a heterogeneous group of disorders, unified by characteristic mutilation of the fingers or toes, associated with palmoplantar keratoderma. Although loricrin gene mutations were recently reported in Vohwinkel'
Christiano, Angela M.   +7 more
core   +1 more source

Primary digital clubbing associated with palmoplantar keratoderma.

open access: yes, 1997
The association of hereditary palmoplantar keratoderma and idiopathic clubbing of the digits in the same patient is uncommon. The differential diagnosis includes the Bureau-Barrière-Thomas syndrome, primary pachydermoperiostosis, Fischer's and Volavsek's
Barraud-Klenovsek MM, Burg G, Lübbe J
core   +1 more source

Vohwinkel syndrome: ichthyosiform variant in a family [PDF]

open access: yesAnais 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

Juvenil Pityriasis Rubra Pilaris: A Case Report [PDF]

open access: yesDüzce 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  

Coexistence of Lichen Planus Pemphigoides, Palmoplantar Keratoderma of Unna-Thost, and Atopic Dermatitis [PDF]

open access: yes, 2022
Lichen planus pemphigoides (LPP) is a very rare auto-immune blistering disease associated with lichenoid skin changes. Unna-Thost palmoplantar keratoderma (PKK) is a type of diffuse palmoplantar keratoderma that mostly affects the palms of the hands and ...
Mokos, Mislav   +1 more
core   +1 more source

Deafness, palmoplantar hyperkeratosis, and knuckle pads with male-to-male transmission: Bart-Pumphrey syndrome

open access: yesGenetics and Molecular Biology, 2003
We report on a 22-year-old male patient and his father, both presenting with congenital sensorineural deafness, diffuse palmoplantar keratoderma and knuckle pads.
Gisele Viana de Oliveira   +3 more
doaj   +1 more source

Palmoplantar keratoderma and Charcot-Marie-Tooth disease.

open access: yes, 1980
A close association was noted between palmoplantar keratoderma (PPK) and Charcot-Marie-Tooth disease (CMT) in nine members of a family in five generations. Clinical, genealogic, electroneurophysiologic, chromosome, urinary amino acid, and histopathologic
V. Cosi   +3 more
core   +1 more source

Diagnosis and Management of Inherited Palmoplantar Keratodermas

open access: yesActa 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 Genetic Findings in Patients With Palmoplantar Keratoderma [PDF]

open access: yes
IMPORTANCE: Palmoplantar keratoderma poses diagnostic challenges due to its clinical and genetic heterogeneity, and knowledge on the value of systematic genetic testing on clinically well-described patient cohorts is sparse.OBJECTIVE: To improve ...
Brusgaard, Klaus   +10 more
core   +1 more source

Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26. [PDF]

open access: yes, 2010
Gap junctions, which mediate rapid intercellular communication, consist of connexins, small transmembrane proteins that belong to a large family of proteins found throughout the species.
Jeong, SY   +11 more
core   +1 more source

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