Results 61 to 70 of about 4,905 (212)

PALMOPLANTAR KERATODERMA WITH SCLERODACTYLY (HURIEZ SYNDROME)

, 1992
A syndrome characterized by palmoplantar keratoderma, sclerodactyly, and skin cancer was first described in two families by Huriez et al. The pattern of inheritance was compatible with that of an autosomal dominant disorder. We report a patient with this
PATRONE, Pasquale, PATRIZI A, DILERNIA V
core   +1 more source

Unilateral Linear Punctate Palmoplantar Keratoderma: A Case Report

Case Reports in Dermatology, 2017
Punctate palmoplantar keratoderma (PPPK) is a rare entity with an estimated prevalence rate of 1.17/100,000. PPPK usually presents with bilateral asymptomatic, tiny, hyperkeratotic punctate papules and plaques on the palmoplantar surface.
Chanisa Kiatsurayanon, Jinda Rojanamatin, Poonawis Sudtikoonaseth, Kowit Kampirapap, Mingkwan Wichaidit, François Niyonsaba   +5 more
doaj   +1 more source

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

, 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., Angela M. Christiano, Masashi Akiyama, Akiyama, Masashi, Shimizu, Hiroshi, Yoneda, Kozo, Kozo Yoneda, Hiroshi Shimizu   +7 more
core   +1 more source

Palmoplantar keratoderma climactericum successfully treated with topical oestrogen

JEADV Clinical Practice
Keratoderma climactericum is characterized by palmoplantar hyperkeratosis developing after the onset of menopause. Although rare, keratoderma climactericum can profoundly impact quality of life and may be refractory to prescription‐strength topical ...
T. E. Norman, O. Obed, A. Chen, S. D. Worswick   +3 more
doaj   +1 more source

Olmsted Syndrome: A Case Report of Two Brothers

Indian Journal of Paediatric Dermatology
Olmsted syndrome is a rare disease characterized by severe mutilating transgradient keratoderma with prominent periorificial hyperkeratosis. A total of 73 cases have been reported worldwide.
Surendra Singh Bhati, Anmol Bhargava, Pramey Deshpande, Swati Sahu   +3 more
doaj   +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

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

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

Nivolumab Induced Palmoplantar Keratoderma

Indian Dermatology Online Journal
Singamsetty Sushma, Kollipara Haritha, Gandikota Raghurama Rao, Sudhir Babu Karri   +3 more
doaj   +3 more sources

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 407-418, February 2026.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source