PSS3
MCID: PLN021
MIFTS: 18

Peeling Skin Syndrome 3 (PSS3)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Peeling Skin Syndrome 3

MalaCards integrated aliases for Peeling Skin Syndrome 3:

Name: Peeling Skin Syndrome 3 57 72 29 6 70
Pss3 57 72
Skin, Peeling Syndrome, Type 3 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in second half of the first decade of life
one consanguineous pakistani family has been described (last curated march 2015)


HPO:

31
peeling skin syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 616265
OMIM Phenotypic Series 57 PS270300
MeSH 44 D003873
SNOMED-CT via HPO 68 258211005
UMLS 70 C4015729

Summaries for Peeling Skin Syndrome 3

UniProtKB/Swiss-Prot : 72 Peeling skin syndrome 3: A form of peeling skin syndrome, a genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non- inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels. PSS3 is characterized by generalized white scaling occurring over the upper and lower extremities. Symptoms start during the second half of the first decade of life.

MalaCards based summary : Peeling Skin Syndrome 3, is also known as pss3. An important gene associated with Peeling Skin Syndrome 3 is CHST8 (Carbohydrate Sulfotransferase 8). Affiliated tissues include skin, and related phenotype is white scaling skin.

OMIM® : 57 Peeling skin syndrome-3 is characterized by asymptomatic lifelong and continuous shedding of the stratum corneum of the epidermis. Symptoms start during the second half of the first decade of life and consist of generalized white scaling occurring over the upper and lower extremities (Cabral et al. (2012)). For a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 (270300). (616265) (Updated 20-May-2021)

Related Diseases for Peeling Skin Syndrome 3

Symptoms & Phenotypes for Peeling Skin Syndrome 3

Human phenotypes related to Peeling Skin Syndrome 3:

31
# Description HPO Frequency HPO Source Accession
1 white scaling skin 31 HP:0040190

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Hair:
normal hair

Skin Nails Hair Skin:
white scaling skin, most prominent over upper and lower extremities
no erythema
no pruritis

Clinical features from OMIM®:

616265 (Updated 20-May-2021)

Drugs & Therapeutics for Peeling Skin Syndrome 3

Search Clinical Trials , NIH Clinical Center for Peeling Skin Syndrome 3

Genetic Tests for Peeling Skin Syndrome 3

Genetic tests related to Peeling Skin Syndrome 3:

# Genetic test Affiliating Genes
1 Peeling Skin Syndrome 3 29 CHST8

Anatomical Context for Peeling Skin Syndrome 3

MalaCards organs/tissues related to Peeling Skin Syndrome 3:

40
Skin

Publications for Peeling Skin Syndrome 3

Articles related to Peeling Skin Syndrome 3:

# Title Authors PMID Year
1
Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. 6 57
22289416 2012
2
Ingestion of bar soap may produce serious injury: clinical effects and risk factors. 61
30307335 2019
3
Expression of the Shigella dysenteriae type-1 lipopolysaccharide repeating unit in Escherichia coli K12/Shigella dysenteriae type-1 hybrids. 61
7682945 1993
4
[Plasmids of the cyanobacterium Synechocystis sp. 6803]. 61
3025718 1985

Variations for Peeling Skin Syndrome 3

ClinVar genetic disease variations for Peeling Skin Syndrome 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHST8 NM_001127895.2(CHST8):c.229C>T (p.Arg77Trp) SNV Uncertain significance 183645 rs149660944 GRCh37: 19:34262922-34262922
GRCh38: 19:33772017-33772017

UniProtKB/Swiss-Prot genetic disease variations for Peeling Skin Syndrome 3:

72
# Symbol AA change Variation ID SNP ID
1 CHST8 p.Arg77Trp VAR_067723 rs149660944

Expression for Peeling Skin Syndrome 3

Search GEO for disease gene expression data for Peeling Skin Syndrome 3.

Pathways for Peeling Skin Syndrome 3

GO Terms for Peeling Skin Syndrome 3

Sources for Peeling Skin Syndrome 3

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....