Olmsted syndrome

Kumar, Praveen; Sharma, P K; Kar, H K

doi:10.4103/0019-5154.41657

Cited by 7 publications

(7 citation statements)

References 4 publications

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“…OS patients often show nails abnormalities including dystrophic, lusterless, ridged, rough nails, hyperkeratosis, onychogryphosis, leukonychia, irregular curvatures, onycholysis, paronychia, subungual hyperkeratosis and even absence of nails [ 22 , 32 , 36 , 43 – 45 , 60 ].…”

Section: Reviewmentioning

confidence: 99%

Olmsted syndrome: clinical, molecular and therapeutic aspects

Duchatelet

Hovnanian

2015

Orphanet J Rare Dis

114

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Olmsted syndrome (OS) is a rare genodermatosis classically characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma (PPK) and periorificial keratotic plaques, but which shows considerable clinical heterogeneity. The disease starts usually at birth or in early childhood. About 73 cases have been reported worldwide. OS is observed in both sexes, although male cases are more frequent. The most suggestive symptoms associate PPK with pseudoainhum and periorificial keratotic plaques. Frequently associated features include hair and nail abnormalities, leukokeratosis, corneal default and recurrent infections. Pain and itching are variable but can be severe. Most of reported OS cases are sporadic, although familial cases with different mode of inheritance were also described. Mutations in TRPV3 (Transient receptor potential vanilloid-3) gene have recently been identified as a cause of autosomal dominant (gain-of-function mutations) or recessive OS. Mutations in MBTPS2 (membrane-bound transcription factor protease, site 2) gene were identified in a recessive X-linked form. The diagnosis relies mainly on clinical features associating severe PPK and periorificial keratotic plaques, but can be challenging in patients with incomplete phenotype or atypical features. OS has to be differentiated from other severe forms of PPK including Vohwinkel, Clouston, Papillon-Lefèvre or Haim-Munk syndromes, Mal de Meleda, pachyonychia congenita, Tyrosinemia type II and acrodermatitis enteropathica. When differential diagnoses are difficult to exclude, genetic studies are essential to search for a TRPV3 or MBTPS2 mutation. However, additional genes remain to be identified. No specific and satisfactory therapy is currently available for OS. Current treatments of hyperkeratosis (mainly emollients, keratolytics, retinoids or corticosteroids), either topical or systemic, are symptomatic and offer only temporary partial relief. Specific management of pain and itching is important to reduce the morbidity of the disease. The disease is debilitating and progressive keratoderma and auto-amputation of digits can prevent patients from grasping and walking, and confine them to a wheelchair. New therapeutic options are therefore crucial and are expected from a better understanding of the disease mechanisms. The use of TRPV3 antagonists would represent such a targeted and potentially powerful strategy.

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Section: Reviewmentioning

confidence: 99%

Olmsted syndrome: clinical, molecular and therapeutic aspects

Duchatelet

Hovnanian

2015

Orphanet J Rare Dis

114

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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%

“…[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

Channels

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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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“…[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: 51%

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

Cited by 7 publications

References 4 publications

Olmsted syndrome: clinical, molecular and therapeutic aspects

Olmsted syndrome: clinical, molecular and therapeutic aspects

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

Olmsted syndrome in a family

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