Results 41 to 50 of about 4,297 (152)
Abnormal Cornified Cell Envelope Formation in Mutilating Palmoplantar Keratoderma Unrelated to Epidermal Differentiation Complex [PDF]
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.
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]
: 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]
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]
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
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.
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
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]
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]
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

