Results 41 to 50 of about 14,748 (240)

Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma.

JAMA Dermatol
Key Points Question What is the clinical and genetic spectrum in a large cohort of Danish patients with palmoplantar keratoderma? Findings In this cohort study, 142 patients with palmoplantar keratoderma from 76 families underwent deep phenotyping as ...
Gram SB, Brusgaard K, Lei U, Sommerlund M, Vinding GR, Sleire SOK, Christensen AH, Fast SP, Bach R, Bygum A, Ousager LB.   +10 more
europepmc   +2 more sources

Intermediate filament–membrane attachments function synergistically with actin-dependent contacts to regulate intercellular adhesive strength [PDF]

, 2002
By tethering intermediate filaments (IFs) to sites of intercellular adhesion, desmosomes facilitate formation of a supercellular scaffold that imparts mechanical strength to a tissue.
Amargo, Evangeline V., Bannon, Leslie J., Chen, Xuejun, Godsel, Lisa M., Green, Kathleen J., Gumbiner, Barry M., Hudson, Tracie Y., Huen, Arthur C., Kelsell, David P., Leigh, Irene M., Mongiu, Anne K., Park, Jung K.   +11 more
core   +5 more sources

Olmsted syndrome: Report of two cases

Indian Journal of Dermatology, 2011
Olmsted syndrome is an uncommon genetic disorder with symmetrical, diffuse, transgredient, mutilating palmoplantar keratoderma and periorificial hyperkeratosis. Olmsted syndrome in a female patient is particularly rare, and we report two unrelated female
G K Tharini, N Hema, S Jayakumar, B Parveen   +3 more
doaj   +1 more source

Complete pachydermoperiostosis with diffuse keratoderma mimicking thyroid Acropachy: A case report and review of literature

Ibom Medical Journal, 2023
Pachydermoperiostosis (PDP) is a rare genodermatosis with prominent cutaneous, soft tissue and skeletal manifestations. It can mimic secondary causes of hypertrophic osteoarthropathy such as thyroid acropachy.
Ajani AA, Owolabi FA, Ologun O, Oninla OA, Enitan A, Olasode O   +5 more
doaj   +1 more source

Receptor tyrosine kinase and p16/CDKN2 expression in a case of tripe palms associated with non-small-cell lung cancer [PDF]

, 1999
Background: Tripe palms is a descriptive term for a cutaneous paraneoplastic keratoderma. Tripe palms are frequently associated with gastric and pulmonary carcinoma. The pathogenetic mechanism remains unknown.
Bezold, G., Dieterle, C., Greulich, K. M., Krähn, Gertraud, Peter, R. U., Wolff, H.   +5 more
core   +1 more source

Compound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar keratoderma

Acta Oto-Laryngologica Case Reports, 2017
GJB2 gene mutation is the most common cause of congenital sensorineural hearing loss worldwide. Most GJB2 gene mutations have been associated with autosomal recessive non-syndromic hearing loss (DFNB1), but some are also associated with autosomal ...
Yasuhiro Arai, Masahiro Takahashi, Naoko Sakuma, Shin-Ya Nisio, Nobuhiko Oridate, Shin-Ichi Usami   +5 more
doaj   +1 more source

A case of ichthyosis hystrix: Unusual manifestation of this rare disease

Indian Journal of Dermatology, 2014
Ichthyosis hystrix is a term used to describe an ichthyosiform dermatosis which is characterized by hyperkeratotic spiny scales mainly over extensor aspects of limbs with palmoplantar keratoderma and occasionally associated with deafness and neurological
Projna Biswas, Abhishek De, Sampreeti Sendur, Falguni Nag, Archana Saha, Gobinda Chatterjee   +5 more
doaj   +1 more source

Papillon- Lefèvre Syndrome: report of a case and its management [PDF]

, 2012
Papillon-Lefèvre Syndrome (PLS) is a rare autosomal recessive disorder first described by two French physicians, Papillon and Lefèvre in 1924. The disorder is characterized by diffuse palmoplantar keratoderma and precocious aggressively progressing ...
Kalra, Namita, Kapoor, Pranav, Sachdeva, Shabina   +2 more
core   +1 more source

Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin

Case Reports in Dermatology, 2015
Background: Pachyonychia congenita (PC) is a rare autosomal dominant disease whose main clinical features include hypertrophic onychodystrophy and palmoplantar keratoderma.
Fahad Almutawa, Thusanth Thusaringam, Kevin Watters, Tenzin Gayden, Nada Jabado, Denis Sasseville   +5 more
doaj   +1 more source

A global perspective of arrhythmogenic right ventricular cardiomyopathy. [PDF]

, 2012
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a progressive inherited heart disease characterized by ventricular arrhythmias and sudden cardiac death especially in the young. ARVC has been traditionally associated with the Mediterranean basin,
Alhashemi, M, Elmaghawry, M, Yacoub, MH, Zorzi, A   +3 more
core   +1 more source