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Olmsted syndrome, X-linked(OLMSX)

MedGen UID:
813075
•Concept ID:
C3806745
•
Disease or Syndrome
Synonyms: OLMSX; Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked
 
Gene (location): MBTPS2 (Xp22.12)
 
Monarch Initiative: MONDO:0010486
OMIM®: 300918

Definition

X-linked Olmsted syndrome (OLMSX) is a rare keratinization disorder characterized by the combination of periorificial keratotic plaques and bilateral palmoplantar transgredient keratoderma. Other clinical manifestations include diffuse alopecia, leukokeratosis of the oral mucosa, onychodystrophy, hyperkeratotic linear streaks, follicular keratosis, and constriction of the digits (summary by Yaghoobi et al., 2007). For a general phenotypic description and a discussion of genetic heterogeneity of Olmsted disease, see OLMS1 (614594). [from OMIM]

Clinical features

From HPO
Palmoplantar keratosis
MedGen UID:
44017
•Concept ID:
C0022596
•
Disease or Syndrome
Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.
See: Feature record | Search on this feature
Palmoplantar keratoderma
MedGen UID:
1635750
•Concept ID:
C4551675
•
Disease or Syndrome
Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
See: Feature record | Search on this feature
Blepharitis
MedGen UID:
598
•Concept ID:
C0005741
•
Disease or Syndrome
Inflammation of the eyelids.
See: Feature record | Search on this feature
Posterior blepharitis
MedGen UID:
698924
•Concept ID:
C1275684
•
Disease or Syndrome
A type of blepharitis that affects the meibomian glands and meibomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia.
See: Feature record | Search on this feature
Parakeratosis
MedGen UID:
10572
•Concept ID:
C0030436
•
Disease or Syndrome
Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.
See: Feature record | Search on this feature
Subungual hyperkeratosis
MedGen UID:
21379
•Concept ID:
C0038605
•
Finding
A thickening of the stratum corneum in the region beneath the nails.
See: Feature record | Search on this feature
Epidermal acanthosis
MedGen UID:
65136
•Concept ID:
C0221270
•
Finding
Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).
See: Feature record | Search on this feature
Alopecia totalis
MedGen UID:
75525
•Concept ID:
C0263504
•
Disease or Syndrome
Loss of all scalp hair.
See: Feature record | Search on this feature
Hyperkeratosis
MedGen UID:
209030
•Concept ID:
C0870082
•
Disease or Syndrome
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

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

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

Diagnosis

An intronic splice-site variant in MBTPS2 underlies ichthyosis follicularis with atrichia and photophobia syndrome.
Chen G, Wang M, Wang P, Liang B
J Dermatol 2023 May;50(5):715-719. Epub 2022 Dec 20 doi: 10.1111/1346-8138.16684. PMID: 36539961
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
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
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

Prognosis

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

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
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
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

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    • ClinVar
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      Related information in GTR
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      Clinical tests in GTR
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      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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