OLMS2
MCID: OLM004
MIFTS: 14

Olmsted Syndrome 2 (OLMS2)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Olmsted Syndrome 2

MalaCards integrated aliases for Olmsted Syndrome 2:

Name: Olmsted Syndrome 2 57
Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques 2; Ppkm2 57
Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques 2 57
Olms2 57
Ppkm2 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in the first few months of life
peeling and scaling on weight-bearing areas (initially)
progressive worsening of lesions in areas of pressure


Classifications:



External Ids:

OMIM® 57 619208
OMIM Phenotypic Series 57 PS614594

Summaries for Olmsted Syndrome 2

OMIM® : 57 Olmsted syndrome-2 (OLMS2) is characterized by mutilating hyperkeratotic skin lesions, primarily on the palms and soles, but also extending onto dorsal surfaces of the hands and feet and distal extremities. The lesions are progressive, becoming thicker with verrucous fissures on the palms and soles over time. In addition, affected individuals exhibit perioral hyperkeratosis, and may have lesions around other orifices as well, such as the nostrils, perineum, and anus. Most patients also have hyperkeratotic nails and light-colored woolly hair (Duchatelet et al., 2019). Some patients may experience flexion contractures of the digits due to the severity of the keratoderma, and intractable pruritus as well as alopecia universalis have been observed (Dai et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of Olmsted disease, see OLMS1 (614594). (619208) (Updated 05-Mar-2021)

MalaCards based summary : Olmsted Syndrome 2, is also known as palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 2; ppkm2. An important gene associated with Olmsted Syndrome 2 is PERP (P53 Apoptosis Effector Related To PMP22).

Related Diseases for Olmsted Syndrome 2

Diseases in the Olmsted Syndrome 1 family:

Olmsted Syndrome 2

Symptoms & Phenotypes for Olmsted Syndrome 2

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skin Nails Hair Skin:
palmoplantar keratoderma
hyperkeratotic plaques
periorificial keratotic plaques
flexion contractures of digits (rare)
severe pruritus (rare)

Skin Nails Hair Hair:
sparse hair
woolly hair
yellow hair
alopecia universalis (rare)

Head And Neck Eyes:
scant eyebrows

Head And Neck Ears:
keratotic papules at lobule and tragus

Skin Nails Hair Skin Electron Microscopy:
absence of mature desmosomes with electron-dense midline
shorter outer plaque length of desmosomes in lower suprabasal layer

Head And Neck Mouth:
cheilitis
periorificial keratotic plaques

Skin Nails Hair Skin Histology:
parakeratosis
orthohyperkeratosis
thickened epidermis (acanthosis)
thickened stratum corneum (hyperkeratosis)
increased number of mast cells in upper dermis

Skin Nails Hair Nails:
hyperkeratotic nails

Head And Neck Teeth:
caries, severe, in secondary teeth

Clinical features from OMIM®:

619208 (Updated 05-Mar-2021)

Drugs & Therapeutics for Olmsted Syndrome 2

Search Clinical Trials , NIH Clinical Center for Olmsted Syndrome 2

Genetic Tests for Olmsted Syndrome 2

Anatomical Context for Olmsted Syndrome 2

Publications for Olmsted Syndrome 2

Articles related to Olmsted Syndrome 2:

# Title Authors PMID Year
1
Olmsted syndrome with alopecia universalis caused by heterozygous mutation in PERP. 57
31361044 2020
2
Mutations in PERP Cause Dominant and Recessive Keratoderma. 57
30321533 2019

Variations for Olmsted Syndrome 2

Expression for Olmsted Syndrome 2

Search GEO for disease gene expression data for Olmsted Syndrome 2.

Pathways for Olmsted Syndrome 2

GO Terms for Olmsted Syndrome 2

Sources for Olmsted Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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