Results 71 to 80 of about 7,987 (210)

Acral malignant melanoma and striated palmoplantar keratoderma (Brunauer-Fohs-Siemens syndrome): a fortuitous association?

, 2004
BACKGROUND: Striated palmoplantar keratoderma or Brunauer-Fohs-Siemens syndrome is a very rare, focal, nonepidermolytic palmoplantar keratoderma with autosomal inheritance.
BIAGIOLI M., POGGIALI S., FIMIANI M., CUCCIA A., RUBEGNI P.   +4 more
core   +1 more source

A novel telomerase activity and microRNA-21 upregulation identified in a family with palmoplantar keratoderma

, 2023
Palmoplantar keratoderma is a set of skin diseases with hyperkeratotic thickening of palms and soles which are characteristic of these heterogeneous group of keratinization disorders.
Concetta Montanino, Claudia Pinelli, Pinelli, Claudia, Bruna De Felice, De Felice, Bruna, Pasquale De Luca, Montanino, Concetta, Nacca, Massimo, Massimo Nacca, De Luca, Pasquale   +9 more
core   +1 more source

Dysphagia in a patient with palmoplantar keratoderma [PDF]

Postgraduate Medical Journal, 2001
Abstract A 72 year old man was referred by his general practitioner with a four month history of dysphagia. Physical examination wasunremarkable with the exception of his hands and feet which showed hyperkeratosis on the palms (fig 1) and soles of his feet.
openaire   +2 more sources

Malignant melanoma in association with palmoplantar keratoderma

, 1999
A case of malignant melanoma arising on the hyperkeratotic little finger of a 46-year-old patient with palmoplantar keratoderma is reported. A pigmented lesion had been present since childhood, over a period of two years it became larger and darker and ...
Aygit, AC, Bayçin, HN, Demiralay, A
core   +1 more source

Hereditary palmoplantar keratoderma - a focus on clinical and molecular genetic aspects.

, 2015
Hereditary palmoplantar keratoderma comprises a heterogenous group of genodermatoses. The clinical spectrum of palmoplantar keratoderma can range from pure skin thickening, restricted to palmoplantar skin to complex conditions with dental anomalies, eye ...
Kamaleswaran, Shailajah, Ousager, Lilian Bomme; id_orcid, Overgaard Bach, Rasmus, Bygum, Anette; id_orcid   +3 more
core   +1 more source

Erythrokeratodermia‐Cardiomyopathy Syndrome: Expanding the DSP Mutational Spectrum Beyond Proline Substitutions

Pediatric Dermatology, Volume 43, Issue 2, Page 444-447, March/April 2026.
ABSTRACT Erythrokeratodermia cardiomyopathy (EKC) syndrome is a rare autosomal dominant disorder characterized by generalized erythrokeratoderma and progressive dilated cardiomyopathy, caused by pathogenic variants in the SR6 domain of desmoplakin (DSP).
Sepideh Hamzehlou, Ryland D. Mortlock, Caroline Echeandia‐Francis, Jing Zhou, Chao Xing, Nnenna G. Agim, Keith A. Choate, Donald A. Glass II   +7 more
wiley   +1 more source

Você conhece esta síndrome? Do you know this Syndrome?

Anais Brasileiros de Dermatologia, 2008
A síndrome de Papillon-Lefèvre ou queratodermia transgressiva com periodontopatia é genodermatose rara, com acometimento cutâneo e dentário. As alterações aparecem por volta do primeiro ano de vida, com queratodermia transgressiva palmoplantar associada ...
Flávia Regina Coeli, Danielle Mazziero Macedo, Mariana Dias Batista, Silmara da Costa Pereira Cestari, Osmar Rotta   +4 more
doaj   +1 more source

Olmsted Syndrome

Indian Journal of Dermatology, 2002
Olmsted syndrome is a rare congential palmoplantar keratoderma with progressive periorificial hyperkeratotic lesions, alopecia areata, deafness, lental and nail changes. Only a few cases of this syndrome have been reported so far.
Mukhopadhyay Piyali, Biswas Nibir, Dutta R.N, Pal S   +3 more
doaj  

Ultrastructural Changes Resulting from Keratin-9 Gene Mutations in Two Families with Epidermolytic Palmoplantar Keratoderma [PDF]

, 1995
Palmoplantar keratodenna of Voerner type (or epidermolytic palmoplantar keratoderma) is an autosoml dominant inherited disorder of keratinization with histologic features of epidermolytic hyperkeratosis, We studied members of two large unrelated kindreds
Leigh, Irene M., Ratnavel, Ravi C., Eady, Robin A.J., Griffiths, D., Birgitte Lane, E., Shamsher, Monee, Andrew, W., Swensson, O.l.e., Navsaria, Harshad A., Irwin McLean, W.H.   +9 more
core   +1 more source

Disruption of tuftelin 1, a desmosome associated protein, causes skin fragility, woolly hair and palmoplantar keratoderma [PDF]

, 2023
Desmosomes are dynamic complex protein structures involved in cellular adhesion. Disruption of these structures by loss of function variants in desmosomal genes lead to a variety of skin and heart related phenotypes.
Kramer, Duco, Hoes, Martijn F, Verlouw, Joost AM, Slotman, Johan A, Uitterlinden, André G, Schouten, Marloes, van den Akker, Peter C, Bremer, Jeroen, Saris, Jasper, Oberdorf-Maass, Silke, Vermeer, Mathilde CSC, Romero-Herrera, Pedro H, Verkerk, Annemieke JMH, Andrei, Daniela, Meijer, Hillegonda J, van den Ouweland, Ans MW, Hoogeboom, A Jeannette M, Silljé, Herman HW, Dean, M Christopher, Nijenhuis, Miranda, Diercks, Gilles FH, Pas, Hendri H, Hublin, Jean-Jacques, Stoop, Hans, Giepmans, Ben NG, van der Molen, Marije, Bolling, Maria C, Willemsen, Rob, Arp, Pascal, van der Meer, Peter   +29 more
core   +1 more source