Results 21 to 30 of about 13,542 (170)

Olmsted syndrome. [PDF]

J Dermatol Case Rep, 2013
Olmsted syndrome is a rare keratinization disorder characterized by a combination of periorificial keratotic plaques and bilateral palmoplantar transgredient keratoderma. Other clinical manifestations include diffuse alopecia, leukokeratosis of the oral mucosa, onychodystrophy, hyperkeratotic linear streaks, follicular hyperkeratosis and constriction ...
Attia AM, Bakry OA.
europepmc   +4 more sources

Atypical presentation of TRPV3 variant: Cerebral palsy and intellectual disability without dermatologic features of olmsted syndrome [PDF]

JAAD Case Reports
Mohamed Adil Shah Khoodoruth, MD, Widaad Nuzhah Chut-kai Khoodoruth, MD, Yasser Saeed Khan, MD   +2 more
doaj   +2 more sources

TRPV3 mutants causing Olmsted Syndrome induce impaired cell adhesion and nonfunctional lysosomes [PDF]

Channels, 2017
Chandan Goswami
exaly   +2 more sources

Olmsted Syndrome With Follicular Hyperkeratosis and Pityriasis Amiantacea

Actas Dermo-Sifiliográficas, 2022
S. Faizan, M. Adil, S.S. Amin, S. Rehman
doaj   +3 more sources

Olmsted Syndrome in a Family.

Int J Trichology, 2016
Olmsted syndrome (OS) is a rare disorder characterized by the combination of periorificial, keratotic plaques, and bilateral palmoplantar keratoderma. Synonyms are mutilating palmoplantar keratoderma with periorificial keratotic plaques (ORPHA659, MIM #614594 and #300918).
Konathan R, Alur SK.
europepmc   +4 more sources

Research Development in Patients with Olmsted Syndrome

罕见病研究, 2023
Olmsted syndrome (OS) is an extremely rare hereditary skin disease, that is usually characterized by mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques.
WEI Haoran, TAO Juan
doaj   +1 more source

Olmsted syndrome: exploration of the immunological phenotype. [PDF]

Orphanet J Rare Dis, 2013
Abstract Background Olmsted syndrome is a rare congenital skin disorder presenting with periorifical hyperkeratotic lesions and mutilating palmoplantar keratoderma, which is often associated with infections of the keratotic area. A recent study identified de novo mutations causing constitutive activation of TRPV3 as a
Danso-Abeam D, Zhang J, Dooley J, Staats KA, Van Eyck L, Van Brussel T, Zaman S, Hauben E, Van de Velde M, Morren MA, Renard M, Van Geet C, Schaballie H, Lambrechts D, Tao J, Franckaert D, Humblet-Baron S, Meyts I, Liston A.   +18 more
europepmc   +6 more sources

Laser therapy in superficial morphea lesions – indications, limitations and therapeutic alternatives [PDF]

, 2020
Morphea or localized scleroderma is an uncommon autoimmune and inflammatory disease which affects patients of any age. Even if morphea lesions present systemic symptoms as myalgias or arthritis, it is distinct from systemic sclerosis because it does not ...
Ardeleanu, Valeriu, Constantin, Vlad Denis, Radaschin, Diana Sabina, Stana, Paunica, Tatu, Alin Laurentiu   +4 more
core   +2 more sources

Endocrinologic Control of Men's Sexual Desire and Arousal/Erection [PDF]

, 2016
Several hormones and neurotransmitters orchestrate men's sexual response, including the appetitive (sexual desire) and consummative (arousal and penile erection) phases.
Aversa, Antonio, Burnett, Arthur L., Corona, Giovanni, Isidori, Andrea, Maggi, Mario   +4 more
core   +1 more source

Genome-wide search for strabismus susceptibility loci. [PDF]

, 2003
The purpose of this study was to search for chromosomal susceptibility loci for comitant strabismus. Genomic DNA was isolated from 10mL blood taken from each member of 30 nuclear families in which 2 or more siblings are affected by either esotropia or ...
Fujiwara, Hirotake, Hasebe, Satoshi, Kitada, Mizue, Matsuo, Toshihiko, Ohtsuki, Hiroshi, Sato, Masako, Yamane, Takashi   +6 more
core   +1 more source