Olmsted syndrome in an Iranian boy with a new de novo mutation in TRPV3

Clinical and Experimental Dermatology

Volumn 39, Issue 4, 2014, Pages 492-495

  Kariminejad, A ^a   Barzegar, M ^b   Abdollahimajd, F ^b   Pramanik, R ^c   McGrath, J A ^c  

^a Kariminejad and Najmabadi Pathology and Genetics Center   (Iran)

^b SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; ETRETIN; GENOMIC DNA; GLYCINE; IMMUNOGLOBULIN E; TRYPTOPHAN; VANILLOID RECEPTOR 3; TRPV3 PROTEIN, HUMAN; VANILLOID RECEPTOR;

ALOPECIA; AMINO ACID SUBSTITUTION; ARTICLE; BUTTOCK; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHILD; FINGER NAIL; FLEXION CONTRACTURE; GENE SEQUENCE; HAND PALM; HUMAN; HYPERKERATOSIS; HYPOTRICHOSIS; IMMUNOGLOBULIN BLOOD LEVEL; INTERPHALANGEAL JOINT; IRAN; MALE; MOUTH DISEASE; NAIL DYSTROPHY; OLMSTED SYNDROME; PAPULE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SCHOOL CHILD; SKIN DEFECT; GENETICS; HAND DISEASE; KERATOSIS; MISSENSE MUTATION; PALMOPLANTAR KERATODERMA; SKIN DISEASE; STENOSIS, OCCLUSION AND OBSTRUCTION; SYNDROME; CLINICAL FEATURE; FINGER AMPUTATION; GENE MUTATION; GENODERMATOSIS; IRANIAN (CITIZEN); OUTCOME ASSESSMENT; SEQUENCE ANALYSIS;

ALOPECIA; CHILD; CONSTRICTION, PATHOLOGIC; FACIAL DERMATOSES; FOOT DERMATOSES; HAND DERMATOSES; HUMANS; KERATODERMA, PALMOPLANTAR; KERATOSIS; MALE; MUTATION, MISSENSE; SYNDROME; TRPV CATION CHANNELS;

EID: 84900472340     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/ced.12318     Document Type: Article

References (9)

1. Lin Z, Chen Q, Lee M, et al,. Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. Am J Hum Genet 2012; 90: 558-64.
2. Tang L, Zhang L, Ding H, et al,. Olmsted syndrome: a new case complicated with easily broken hair and treated with oral retinoid. J Dermatol 2012; 39: 1-2.
3. Olmsted HC,. Keratodermia Palmaris et plantaris congenitalis: report of a case showing associated lesions of unusual location. Am J Dis Child 1927; 33: 757-64.
4. Mevorah B, Goldberg I, Sprecher E, et al,. Olmsted syndrome: mutilating palmoplantar keratoderma with periorificial keratotic plaques. Am Acad Dermatol 2005; 53: S266-72.
5. Ogawa F, Udono M, Murota H, et al,. Olmsted syndrome with squamous cell carcinoma of extremities and adenocarcinoma of the lung; failure to detect loricrin gene mutation. Eur J Dermatol 2003; 13: 524-8.
6. Haghighi A, Scott CA, Poon DS, et al,. A missense mutation in the MBTPS2 gene underlies the X-linked form of olmsted syndrome. J Invest Dermatol 2013; 133: 573-6.
7. Danso-Abeam D, Ahang J, Doolian J, et al,. Olmsted syndrome: exploration of the immunological phenotype. Orphanet J Rare Dis 2013; 8: 79.
8. Lai-Cheong JE, Sethuraman G, Ramam M, et al,. Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome. Br J Dermatol 2012; 16: 440-2.
9. Han L, Ma C, Liu Q, et al,. A subpopulation of nociceptors specifically linked to itch. Nat Neurosci 2013; 16: 174-84.