MCID: PLN008
MIFTS: 37

Peeling Skin Syndrome

Categories: Rare diseases, Skin diseases, Genetic diseases

Aliases & Classifications for Peeling Skin Syndrome

MalaCards integrated aliases for Peeling Skin Syndrome:

Name: Peeling Skin Syndrome 12 49 28 13 14 69
Skin Peeling Syndrome 72 49
Keratolysis Exfoliativa Congenita 49
Familial Continuous Skin Peeling 49
Exfoliation Syndrome 69
Deciduous Skin 49

Classifications:



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Disease Ontology 12 DOID:0060283
ICD10 32 Q80.8
UMLS 69 C1849193

Summaries for Peeling Skin Syndrome

NIH Rare Diseases : 49 Peeling skin syndrome is a genetic disorder characterized by continual peeling of the skin. Affected individuals may also experience itching and reddening of the skin. The signs and symptoms of peeling skin syndrome usually appear soon after birth, but they may also develop later in life. There are two main subtypes of this condition, called noninflammatory type A and inflammatory type B. In some families, an acral form of peeling skin syndrome has been reported, in which skin peeling is strictly limited to the hands and feet. Peeling skin syndrome has an autosomal recessive pattern of inheritance. Mutations in the TGM5 gene have been identified in several patients with the acral form of peeling skin syndrome. Last updated: 3/30/2010

MalaCards based summary : Peeling Skin Syndrome, also known as skin peeling syndrome, is related to peeling skin syndrome 2 and peeling skin syndrome 1, and has symptoms including dry skin, hyperhidrosis and aminoaciduria. An important gene associated with Peeling Skin Syndrome is CDSN (Corneodesmosin), and among its related pathways/superpathways is Keratinization. Affiliated tissues include skin.

Wikipedia : 72 Peeling skin syndrome (also known as \"Acral peeling skin syndrome,\" \"Continual peeling skin... more...

Related Diseases for Peeling Skin Syndrome

Graphical network of the top 20 diseases related to Peeling Skin Syndrome:



Diseases related to Peeling Skin Syndrome

Symptoms & Phenotypes for Peeling Skin Syndrome

Human phenotypes related to Peeling Skin Syndrome:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 dry skin 31 hallmark (90%) HP:0000958
2 hyperhidrosis 31 frequent (33%) HP:0000975
3 aminoaciduria 31 hallmark (90%) HP:0003355
4 multiple cafe-au-lait spots 31 frequent (33%) HP:0007565
5 ichthyosis 31 hallmark (90%) HP:0008064
6 abnormal blistering of the skin 31 hallmark (90%) HP:0008066
7 abnormality of hair texture 31 frequent (33%) HP:0010719

Drugs & Therapeutics for Peeling Skin Syndrome

Search Clinical Trials , NIH Clinical Center for Peeling Skin Syndrome

Genetic Tests for Peeling Skin Syndrome

Genetic tests related to Peeling Skin Syndrome:

# Genetic test Affiliating Genes
1 Peeling Skin Syndrome 28 CDSN

Anatomical Context for Peeling Skin Syndrome

MalaCards organs/tissues related to Peeling Skin Syndrome:

38
Skin

Publications for Peeling Skin Syndrome

Articles related to Peeling Skin Syndrome:

(show top 50) (show all 58)
# Title Authors Year
1
Enhanced Proteolytic Activities in Acral Peeling Skin Syndrome: A Role of Transglutaminase 5 in Epidermal Homeostasis. ( 28395976 )
2017
2
A Case of Peeling Skin Syndrome. ( 28584761 )
2017
3
Peeling skin syndrome associated with novel variant in FLG2 gene. ( 28884927 )
2017
4
A Case of Late-Onset Peeling Skin Syndrome Likely Triggered by Irritation. ( 28223764 )
2017
5
The glycan-specific sulfotransferase (R77W)GalNAc-4-ST1 putatively responsible for peeling skin syndrome has normal properties consistent with a simple sequence polymorphisim. ( 28204496 )
2017
6
Acral peeling skin syndrome associated with a novel CSTA gene mutation. ( 26684698 )
2016
7
Acral Peeling Skin Syndrome: A Case Report and Literature Review. ( 27206604 )
2016
8
Novel TGM5 mutations in acral peeling skin syndrome. ( 25644735 )
2015
9
Peeling skin syndrome. ( 26150647 )
2015
10
Hypercalciuria in a child with acral peeling skin syndrome: a case report. ( 25969915 )
2015
11
Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations. ( 24628291 )
2014
12
Adult-onset acral peeling skin syndrome in a non-identical twin: a case report in South Africa. ( 25549719 )
2014
13
Immunoglobulin A Nephropathy in Association with Generalized Inflammatory Peeling Skin Syndrome. ( 25196305 )
2014
14
Inflammatory peeling skin syndrome caused by homozygous genomic deletion in the PSORS1 region encompassing the CDSN gene. ( 24372652 )
2014
15
Acral peeling skin syndrome resulting from mutations in TGM5. ( 25510201 )
2014
16
Increased expression of epidermal thymic stromal lymphopoietin in inflammatory peeling skin syndrome. ( 24628284 )
2014
17
A Case of Inflammatory Generalized Type of Peeling Skin Syndrome Possibly Caused by a Homozygous Missense Mutation of CDSN. ( 25473393 )
2014
18
Acral peeling skin syndrome resembling epidermolysis bullosa simplex in a 10-month-old boy. ( 24019772 )
2013
19
Aberrant distribution patterns of corneodesmosomal components of tape-stripped corneocytes in atopic dermatitis and related skin conditions (ichthyosis vulgaris, Netherton syndrome and peeling skin syndrome type B). ( 23810772 )
2013
20
Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A. ( 23534700 )
2013
21
Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B. ( 23957618 )
2013
22
Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder. ( 22066523 )
2012
23
Inflammatory peeling skin syndrome caused a novel mutation in CDSN. ( 22146835 )
2012
24
Netherton syndrome showing a large clinical overlap with generalized inflammatory peeling skin syndrome. ( 22562784 )
2012
25
Acral peeling skin syndrome in two East-African siblings: case report. ( 22429841 )
2012
26
TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome. ( 22622422 )
2012
27
Peeling skin syndrome in eight cases of four different families from India and Bangladesh. ( 22960820 )
2012
28
Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. ( 22289416 )
2012
29
A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome. ( 22036214 )
2012
30
Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin. ( 21191406 )
2011
31
Peeling skin syndrome: genetic defects in late terminal differentiation of the epidermis. ( 21307953 )
2011
32
Peeling skin syndrome: Current status. ( 20233567 )
2010
33
Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals. ( 20164844 )
2010
34
Generalized peeling skin syndrome: Case report and review of the literature. ( 20233558 )
2010
35
A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family. ( 19440220 )
2009
36
Acral peeling skin syndrome: a case of two brothers. ( 19706098 )
2009
37
Facial peeling skin syndrome: a case report and a brief review. ( 17343587 )
2007
38
Inflammatory peeling skin syndrome studied with electron microscopy. ( 17014649 )
2006
39
A case of peeling skin syndrome successfully treated with topical calcipotriol. ( 16700837 )
2006
40
Elevated human tissue kallikrein levels in the stratum corneum and serum of peeling skin syndrome-type B patients suggests an over-desquamation of corneocytes. ( 16778802 )
2006
41
Peeling skin syndrome: 11 cases from Saudi Arabia. ( 17019101 )
2006
42
Peeling skin syndrome. ( 16709496 )
2006
43
Peeling skin syndrome with aminoaciduria. ( 16060866 )
2005
44
A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. ( 16380904 )
2005
45
Acral peeling skin syndrome: report of two cases. ( 15931780 )
2005
46
Peeling skin syndrome. ( 17642582 )
2004
47
ComA"l-Netherton syndrome and peeling skin syndrome type B: overlapping syndromes or one entity? ( 12100700 )
2002
48
Comel-Netherton syndrome: evolution of manifestation in a 20-year follow-up and phenotypic overlap with peeling skin syndrome type B. ( 10954215 )
2000
49
Acral peeling skin syndrome. ( 11100033 )
2000
50
Peeling skin syndrome with hair changes. ( 9873177 )
1998

Variations for Peeling Skin Syndrome

ClinVar genetic disease variations for Peeling Skin Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CDSN NM_001264.4(CDSN): c.175A> T (p.Lys59Ter) single nucleotide variant Pathogenic rs387906841 GRCh37 Chromosome 6, 31085217: 31085217
2 CDSN NM_001264.4(CDSN): c.746delG (p.Gly249Valfs) deletion Pathogenic rs672601343 GRCh37 Chromosome 6, 31084646: 31084646
3 CDSN NM_001264.4(CDSN): c.164_167dupGCCT (p.Thr57Profs) duplication Pathogenic rs606231274 GRCh38 Chromosome 6, 31117448: 31117451
4 CDSN NM_001264.4(CDSN): c.424G> T (p.Gly142Ter) single nucleotide variant Pathogenic rs606231275 GRCh38 Chromosome 6, 31117191: 31117191
5 TGM5 NM_201631.3(TGM5): c.337G> T (p.Gly113Cys) single nucleotide variant Pathogenic rs112292549 GRCh37 Chromosome 15, 43552349: 43552349

Expression for Peeling Skin Syndrome

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

Pathways for Peeling Skin Syndrome

Pathways related to Peeling Skin Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.25 CDSN CSTA TGM5

GO Terms for Peeling Skin Syndrome

Cellular components related to Peeling Skin Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cornified envelope GO:0001533 8.62 CDSN CSTA

Biological processes related to Peeling Skin Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of endopeptidase activity GO:0010951 9.43 COL7A1 CSTA SERPINB8
2 cell-cell adhesion GO:0098609 9.4 CDSN CSTA
3 keratinocyte differentiation GO:0030216 9.37 CDSN CSTA
4 negative regulation of peptidase activity GO:0010466 9.33 COL7A1 CSTA SERPINB8
5 peptide cross-linking GO:0018149 9.32 CSTA TGM5
6 cornification GO:0070268 9.13 CDSN CSTA TGM5
7 epidermis development GO:0008544 8.8 CDSN COL7A1 TGM5

Molecular functions related to Peeling Skin Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase inhibitor activity GO:0004867 8.96 COL7A1 SERPINB8
2 peptidase inhibitor activity GO:0030414 8.8 COL7A1 CSTA SERPINB8

Sources for Peeling Skin Syndrome

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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