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Olmsted syndrome(OLMS)

MedGen UID:
590661
•Concept ID:
C0406761
•
Congenital Abnormality; Disease or Syndrome
Synonyms: Mutilating palmoplantar keratoderma with periorificial keratotic plaques; OLMS
SNOMED CT: Congenital palmoplantar and perioral keratoderma of Olmsted (239072003); Olmsted syndrome (239072003); Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques (239072003)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal dominant inheritance (Orphanet)
X-linked recessive inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0031421
OMIM® Phenotypic series: PS614594
Orphanet: ORPHA659

Definition

A hereditary palmoplantar keratoderma with characteristics of the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOlmsted syndrome

Professional guidelines

PubMed

A whole-genome sequencing-based novel preimplantation genetic testing method for de novo mutations combined with chromosomal balanced translocations.
Yuan P, Xia J, Ou S, Liu P, Du T, Zheng L, Yin X, Xie L, Zhang S, Yan H, Gao Y, Zhang Q, Jiang H, Chen F, Wang W
J Assist Reprod Genet 2020 Oct;37(10):2525-2533. Epub 2020 Aug 11 doi: 10.1007/s10815-020-01921-4. PMID: 32783137Free PMC Article
Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.
Bornholdt D, Atkinson TP, Bouadjar B, Catteau B, Cox H, De Silva D, Fischer J, Gunasekera CN, Hadj-Rabia S, Happle R, Holder-Espinasse M, Kaminski E, König A, Mégarbané A, Mégarbané H, Neidel U, Oeffner F, Oji V, Theos A, Traupe H, Vahlquist A, van Bon BW, Virtanen M, Grzeschik KH
Hum Mutat 2013 Apr;34(4):587-94. Epub 2013 Mar 8 doi: 10.1002/humu.22275. PMID: 23316014

Recent clinical studies

Etiology

Olmsted Syndrome: Case Report of Nursing Management of Premature Twins.
Anderson S, Paradise J, Esser M
Adv Neonatal Care 2022 Aug 1;22(4):333-340. Epub 2021 Sep 30 doi: 10.1097/ANC.0000000000000942. PMID: 34596089
Use of Epidermal Growth Factor Receptor Inhibitor Erlotinib to Treat Palmoplantar Keratoderma in Patients With Olmsted Syndrome Caused by TRPV3 Mutations.
Greco C, Leclerc-Mercier S, Chaumon S, Doz F, Hadj-Rabia S, Molina T, Boucheix C, Bodemer C
JAMA Dermatol 2020 Feb 1;156(2):191-195. doi: 10.1001/jamadermatol.2019.4126. PMID: 31895432Free PMC Article
A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia.
Duchatelet S, Pruvost S, de Veer S, Fraitag S, Nitschké P, Bole-Feysot C, Bodemer C, Hovnanian A
JAMA Dermatol 2014 Mar;150(3):303-6. doi: 10.1001/jamadermatol.2013.8709. PMID: 24452206
Palmoplantar keratoderma and skin grafting: postsurgical long-term follow-up of two cases with Olmsted syndrome.
Bédard MS, Powell J, Laberge L, Allard-Dansereau C, Bortoluzzi P, Marcoux D
Pediatr Dermatol 2008 Mar-Apr;25(2):223-9. doi: 10.1111/j.1525-1470.2008.00639.x. PMID: 18429785

Diagnosis

Olmsted Syndrome.
Huang YY, Li JH
JAMA Dermatol 2024 Feb 1;160(2):218-219. doi: 10.1001/jamadermatol.2023.4152. PMID: 38055272
Genotype‒Phenotype Correlation of TRPV3-Related Olmsted Syndrome.
Zhong W, Hu L, Cao X, Zhao J, Zhang X, Lee M, Wang H, Zhang J, Chen Q, Feng C, Duo L, Wang X, Tang L, Lin Z, Yang Y
J Invest Dermatol 2021 Mar;141(3):545-554. Epub 2020 Aug 11 doi: 10.1016/j.jid.2020.06.035. PMID: 32795529
Olmsted syndrome: clinical, molecular and therapeutic aspects.
Duchatelet S, Hovnanian A
Orphanet J Rare Dis 2015 Mar 17;10:33. doi: 10.1186/s13023-015-0246-5. PMID: 25886873Free PMC Article
Olmsted syndrome.
Fonseca E, Peña C, Del Pozo J, Almagro M, Yebra MT, Cuevas J, Contreras F
J Cutan Pathol 2001 May;28(5):271-5. doi: 10.1034/j.1600-0560.2001.028005271.x. PMID: 11401671
Olmsted syndrome.
Perry HO, Su WP
Semin Dermatol 1995 Jun;14(2):145-51. doi: 10.1016/s1085-5629(05)80011-2. PMID: 7640195

Therapy

Two for two: Dual therapy with erlotinib and acitretin for twins with severe keratoderma in Olmsted syndrome.
Butala S, Phan S, Siegel DH, Carlberg V, Paller AS
Pediatr Dermatol 2023 Jul-Aug;40(4):735-737. Epub 2023 Jan 29 doi: 10.1111/pde.15264. PMID: 36709954
PAR2 Mediates Itch via TRPV3 Signaling in Keratinocytes.
Zhao J, Munanairi A, Liu XY, Zhang J, Hu L, Hu M, Bu D, Liu L, Xie Z, Kim BS, Yang Y, Chen ZF
J Invest Dermatol 2020 Aug;140(8):1524-1532. Epub 2020 Jan 29 doi: 10.1016/j.jid.2020.01.012. PMID: 32004565Free PMC Article
Targeted Inhibition of the Epidermal Growth Factor Receptor and Mammalian Target of Rapamycin Signaling Pathways in Olmsted Syndrome.
Zhang A, Duchatelet S, Lakdawala N, Tower RL, Diamond C, Marathe K, Hill I, Richard G, Diab Y, Kirkorian AY, Watanabe F, Siegel DH, Hovnanian A
JAMA Dermatol 2020 Feb 1;156(2):196-200. doi: 10.1001/jamadermatol.2019.4141. PMID: 31895414Free PMC Article
Olmsted syndrome.
Ali ME, Sikdar AU, Akhtar N, Islam ZM
Mymensingh Med J 2007 Jan;16(1):100-3. doi: 10.3329/mmj.v16i1.262. PMID: 17344790
The Olmsted syndrome.
Santos OL, Amorim JH, Voloch K, Gomes M, Ramos-e-Silva M, Pereira Júnior AC
Int J Dermatol 1997 May;36(5):359-60. doi: 10.1111/j.1365-4362.1997.tb03097.x. PMID: 9199984

Prognosis

Identification of a heterozygous p.Gly568Val missense mutation in the TRPV3 gene in a Japanese patient with Olmsted syndrome: In silico analysis of TRPV3.
Nagai H, Takaoka Y, Sugano A, Nakamachi Y, Kawano S, Nishigori C
J Dermatol 2017 Sep;44(9):1059-1062. Epub 2017 Apr 9 doi: 10.1111/1346-8138.13844. PMID: 28391651
Nagashima-type palmoplantar keratosis in a Chinese Han population.
Zhang J, Zhang G, Ni C, Cheng R, Liang J, Li M, Yao Z
Mol Med Rep 2016 Nov;14(5):4049-4054. Epub 2016 Sep 21 doi: 10.3892/mmr.2016.5757. PMID: 27666198Free PMC Article
A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome.
Ni C, Yan M, Zhang J, Cheng R, Liang J, Deng D, Wang Z, Li M, Yao Z
Sci Rep 2016 Feb 23;6:21815. doi: 10.1038/srep21815. PMID: 26902751Free PMC Article
A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia.
Duchatelet S, Pruvost S, de Veer S, Fraitag S, Nitschké P, Bole-Feysot C, Bodemer C, Hovnanian A
JAMA Dermatol 2014 Mar;150(3):303-6. doi: 10.1001/jamadermatol.2013.8709. PMID: 24452206
Olmsted syndrome-palmoplantar and periorificial keratodermas: association with malignant melanoma.
Dessureault J, Poulin Y, Bourcier M, Gagne E
J Cutan Med Surg 2003 May-Jun;7(3):236-42. doi: 10.1007/s10227-002-0107-4. PMID: 12704531

Clinical prediction guides

Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta.
Lim PJ, Marcionelli G, Srikanthan P, Ndarugendamwo T, Pinner J, Rohrbach M, Giunta C
Front Endocrinol (Lausanne) 2023;14:1195704. Epub 2023 May 25 doi: 10.3389/fendo.2023.1195704. PMID: 37305034Free PMC Article
Beyond Ca(2+) signalling: the role of TRPV3 in the transport of NH(4)().
Liebe H, Liebe F, Sponder G, Hedtrich S, Stumpff F
Pflugers Arch 2021 Dec;473(12):1859-1884. Epub 2021 Oct 19 doi: 10.1007/s00424-021-02616-0. PMID: 34664138Free PMC Article
Olmsted syndrome: clinical, molecular and therapeutic aspects.
Duchatelet S, Hovnanian A
Orphanet J Rare Dis 2015 Mar 17;10:33. doi: 10.1186/s13023-015-0246-5. PMID: 25886873Free PMC Article
Olmsted syndrome.
Fonseca E, Peña C, Del Pozo J, Almagro M, Yebra MT, Cuevas J, Contreras F
J Cutan Pathol 2001 May;28(5):271-5. doi: 10.1034/j.1600-0560.2001.028005271.x. PMID: 11401671
Olmsted syndrome.
Perry HO, Su WP
Semin Dermatol 1995 Jun;14(2):145-51. doi: 10.1016/s1085-5629(05)80011-2. PMID: 7640195

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