Olmsted syndrome: Report of two cases

Tharini, GK; Hema, N G; Jayakumar, Sivasankar; Parveen, B

doi:10.4103/0019-5154.87166

Cited by 12 publications

(10 citation statements)

References 8 publications

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“…2 These patients develop clinical symptoms of bilateral mutilating palmoplantar keratoderma and periorifacial keratotic plaques. [3][4][5][6][7][8][9] Severe itching at the affected regions, impaired hair growth, hearing loss, and loss of terminal portion of the limbs, auto-amputation of digits, loss-of-bones and/or osteonecrosis are other specific features of OS. [9][10][11] There is no satisfactory treatment for this disease as different agents such as salicylic acid, urea, boric acid, shale oil, retinoic acids, corticosteroids, anti-microbial drugs, antihistamines, vitamin-E, vitamin-A and other emollients failed to improve the pathological conditions.…”

Section: Introductionmentioning

confidence: 99%

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

Yadav

Goswami

2017

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TRPV3 is a non-selective cationic channel and is important for several physiological functions. It can be activated by physiological temperature and selective endogenous and exogenous compounds. TRPV3 is one of the key ion channel involved in Ca 2C -signaling in keratinocyte and thus involved in skin-related functions. Recently, naturally occurring mutations in TRPV3, namely G573A, G573S, G573C and W692G have been detected which are linked with the development of pathophysiological conditions such as Olmsted Syndrome (OS) and other skin disorders. Our qualitative and quantitative data suggests that these naturally occurring TRPV3 mutants are mainly restricted in the ER. Expression of OS-mutants cause impaired vesicular trafficking resulting reduced surface localization of these mutants and other membrane proteins too. OS-mutants also cause reduced cell adhesion, altered distribution and less number of lysosomes. Our data confirms that TRPV3 is a lysosomal protein suggesting that Olmsted Syndrome is a lysosomal disorder. These findings may have a broad implication in the context of keratinocyte functions, skin-degeneration and in skin-cancer.

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Section: Introductionmentioning

confidence: 99%

“…[4][5]8,11,17,18 The exact mode of inheritance of OS is not well established. Sporadic occurrence, autosomaldominant, X-linked dominant and X-linked recessive modes of inheritance had been proposed.…”

Section: Introductionmentioning

confidence: 99%

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

Yadav

Goswami

2017

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“…It should be differentiated from several genodermatoses, such as Vohwinkel syndrome (MIM 124500) and acrodermatitis enteropathica (MIM 201100). 2 Until recently, only 46 individuals with OS had been reported, 4,5 including 36 sporadic cases and four families containing ten affected individuals. The definite mode of inheritance was still uncertain, and autosomal-dominant, 6 X-linked-dominant 7 and X-linkedrecessive 8 modes of inheritance had been proposed.…”

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confidence: 99%

Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome

Lin

Chen

Lee

et al. 2012

The American Journal of Human Genetics

294

325

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Olmsted syndrome (OS) is a rare congenital disorder characterized by palmoplantar and periorificial keratoderma, alopecia in most cases, and severe itching. The genetic basis for OS remained unidentified. Using whole-exome sequencing of case-parents trios, we have identified a de novo missense mutation in TRPV3 that produces p.Gly573Ser in an individual with OS. Nucleotide sequencing of five additional affected individuals also revealed missense mutations in TRPV3 (which produced p.Gly573Ser in three cases and p.Gly573Cys and p.Trp692Gly in one case each). Encoding a transient receptor potential vanilloid-3 cation channel, TRPV3 is primarily expressed in the skin, hair follicles, brain, and spinal cord. In transfected HEK293 cells expressing TRPV3 mutants, much larger inward currents were recorded, probably because of the constitutive opening of the mutants. These gain-of-function mutations might lead to elevated apoptosis of keratinocytes and consequent skin hyperkeratosis in the affected individuals. Our findings suggest that TRPV3 plays essential roles in skin keratinization, hair growth, and possibly itching sensation in humans and selectively targeting TRPV3 could provide therapeutic potential for keratinization or itching-related skin disorders.

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“…[3] A case of a 6-year-old Indian girl in one report and two more unrelated female cases in another were reported. [45] Whereas in our case, three siblings in a single family were affected, out of which two were females.…”

Section: Discussionmentioning

confidence: 53%

Olmsted syndrome in a family

Konathan

Alur

2016

Int J Trichol

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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). A number sign (#) is used with this entry because of evidence that mutilating palmoplantar keratoderma with periorificial keratotic plaques (OS) is caused by heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. We report three cases of OS, two females and one male in the same family, who presented with palmoplantar keratoderma, sparse scalp hair, cheilitis, and periorificial fissures. We are reporting the cases due to the rarity of occurrence and to highlight the trichoscopy findings.

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Olmsted syndrome: Report of two cases

Cited by 12 publications

References 8 publications

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

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

Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome

Olmsted syndrome in a family

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