Results 31 to 40 of about 13,542 (170)

Expanding the Phenotypic Spectrum of Olmsted Syndrome. [PDF]

J Invest Dermatol, 2015
Wilson NJ, Cole C, Milstone LM, Kiszewski AE, Hansen CD, O'Toole EA, Schwartz ME, Irwin McLean WH, Smith FJD.   +8 more
europepmc   +5 more sources

Olmsted syndrome

Mymensingh Medical Journal, 2007
Olmsted syndrome is a rare disorder characterized by symmetrical sharply marginated mutilating keratoderma of palms & soles & hyperkeratotic plaques around the body orifices, onychodystrophy, ainhum & amputation of digital phalanges, flextion deformities of the fingers, localized alopecia, leukokeratosis of the tongue, shortness of stature & laxity of ...
M E, Ali, A U, Sikdar, N, Akhtar, Z M, Islam   +3 more
openaire   +2 more sources

Defining Recovery and Relapse in Bulimia Nervosa: A Systematic Review of the Literature. [PDF]

Eur Eat Disord Rev
ABSTRACT Objective Despite advances in understanding bulimia nervosa (BN), standardized definitions of outcome stages remain lacking. This review aims to synthesise definitions of recovery and relapse in BN to improve its assessment and comparability across study outcomes. Methods A systematic review was conducted using PRISMA guidelines.
Gardini V, Pagli F, Tomba E.
europepmc   +2 more sources

A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia [PDF]

, 2014
IMPORTANCE: Olmsted syndrome (OS) is a rare keratinizing disorder characterized by excessive epidermal thickening of the palms and soles, with clinical and genetic heterogeneity.
Bodemer, Christine, Bole-Feysot, Christine, de Veer, Simon, Duchatelet, Sabine, Fraitag, Sylvie, Hovnanian, Alain, Nitschké, Patrick, Pruvost, Solenn   +7 more
core   +1 more source

Developmental aspects of FXAND in a man with the FMR1 premutation. [PDF]

, 2020
BackgroundFragile X mental retardation 1 (FMR1) premutation can cause developmental problems including autism spectrum disorder (ASD), social anxiety, depression, and attention deficit hyperactivity disorder (ADHD).
Emeka-Nwonovo, Chinelo, Hagerman, Paul, Hagerman, Randi, Santos, Ellery, Schneider, Andrea, Tassone, Flora, Wang, Jun Yi   +6 more
core   +1 more source

Palmo-plantar keratoderma with debilitating pruritus

Indian Journal of Paediatric Dermatology, 2020
We describe two siblings with diffuse, mutilating palmo-plantar keratoderma suggestive of Olmsted syndrome, with significantly compromised quality of life in the form of inability to walk and grasp objects.
Vandana Kataria, Chander Grover, Deepika Pandhi   +2 more
doaj   +1 more source

MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders

Journal of Translational Medicine, 2021
The MBTPS2 gene on the X-chromosome encodes the membrane-bound transcription factor protease, site-2 (MBTPS2) or site-2 protease (S2P) which cleaves and activates several signaling and regulatory proteins from the membrane.
Natarin Caengprasath, Thanakorn Theerapanon, Thantrira Porntaveetus, Vorasuk Shotelersuk   +3 more
doaj   +1 more source

Inhibition of temperature-sensitive TRPV3 channel by two natural isochlorogenic acid isomers for alleviation of dermatitis and chronic pruritus

Acta Pharmaceutica Sinica B, 2022
Genetic gain-of-function mutations of warm temperature-sensitive transient receptor potential vanilloid 3 (TRPV3) channel cause Olmsted syndrome characterized by severe itching and keratoderma, indicating that pharmacological inhibition of TRPV3 may hold
Hang Qi, Yuntao Shi, Han Wu, Canyang Niu, Xiaoying Sun, KeWei Wang   +5 more
doaj   +1 more source

Therapeutic inhibition of keratinocyte TRPV3 sensory channel by local anesthetic dyclonine

eLife, 2021
The multimodal sensory channel transient receptor potential vanilloid-3 (TRPV3) is expressed in epidermal keratinocytes and implicated in chronic pruritus, allergy, and inflammation-related skin disorders.
Qiang Liu, Jin Wang, Xin Wei, Juan Hu, Conghui Ping, Yue Gao, Chang Xie, Peiyu Wang, Peng Cao, Zhengyu Cao, Ye Yu, Dongdong Li, Jing Yao   +12 more
doaj   +1 more source

Management of Widespread Pain and Fibromyalgia [PDF]

, 2016
Peer reviewedPublisher ...
Basu, Neil, Dean, Linda E, Whibley, Daniel   +2 more
core   +2 more sources