MCID: PLN008
MIFTS: 40

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 53 37 29 13 6 15 73
Skin Peeling Syndrome 76 53
Familial Continuous Skin Peeling Syndrome 53
Keratolysis Exfoliativa Congenita 53
Familial Continuous Skin Peeling 53
Keratosis Exfoliativa Congenita 53
Idiopathic Deciduous Skin 53
Keratolysis Exfoliativa 73
Exfoliation Syndrome 73
Peeling Skin Disease 53
Deciduous Skin 53
Pss 53

Classifications:



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Disease Ontology 12 DOID:0060283
ICD10 33 Q80.8
KEGG 37 H00737

Summaries for Peeling Skin Syndrome

NIH Rare Diseases : 53 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.

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

Wikipedia : 76 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:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 dry skin 32 hallmark (90%) HP:0000958
2 hyperhidrosis 32 frequent (33%) HP:0000975
3 aminoaciduria 32 hallmark (90%) HP:0003355
4 multiple cafe-au-lait spots 32 frequent (33%) HP:0007565
5 ichthyosis 32 hallmark (90%) HP:0008064
6 abnormal blistering of the skin 32 hallmark (90%) HP:0008066
7 abnormality of hair texture 32 frequent (33%) HP:0010719

Drugs & Therapeutics for Peeling Skin Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase 2 Study of XAF5 (XOPH5) Ointment for Reduction of Excess Eyelid Fat (Steatoblepharon) Completed NCT02230761 Phase 2 XOPH5 Ointment;Placebo
2 Pelvic Floor Muscle Training(PFMT) on Lower Urinary Tract Symptoms (LUTS) in Men With Stroke Unknown status NCT01042249 Not Applicable
3 Effect of Pumpkin Seeds on the Dietary Fatty Acid Intake and Blood Pressure in Women Withdrawn NCT01928966 Not Applicable

Search 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 29 CDSN

Anatomical Context for Peeling Skin Syndrome

MalaCards organs/tissues related to Peeling Skin Syndrome:

41
Skin

Publications for Peeling Skin Syndrome

Articles related to Peeling Skin Syndrome:

(show top 50) (show all 60)
# Title Authors Year
1
Generalized Ichthyotic Peeling Skin Syndrome due to FLG2 Mutations. ( 29505760 )
2018
2
Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A. ( 29758285 )
2018
3
A Case of Late-Onset Peeling Skin Syndrome Likely Triggered by Irritation. ( 28223764 )
2017
4
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
5
A Case of Peeling Skin Syndrome. ( 28584761 )
2017
6
Enhanced Proteolytic Activities in Acral Peeling Skin Syndrome: A Role of Transglutaminase 5 in Epidermal Homeostasis. ( 28395976 )
2017
7
Peeling skin syndrome associated with novel variant in FLG2 gene. ( 28884927 )
2017
8
Acral peeling skin syndrome associated with a novel CSTA gene mutation. ( 26684698 )
2016
9
Acral Peeling Skin Syndrome: A Case Report and Literature Review. ( 27206604 )
2016
10
Hypercalciuria in a child with acral peeling skin syndrome: a case report. ( 25969915 )
2015
11
Novel TGM5 mutations in acral peeling skin syndrome. ( 25644735 )
2015
12
Peeling skin syndrome. ( 26150647 )
2015
13
Acral peeling skin syndrome resulting from mutations in TGM5. ( 25510201 )
2014
14
Adult-onset acral peeling skin syndrome in a non-identical twin: a case report in South Africa. ( 25549719 )
2014
15
Immunoglobulin A Nephropathy in Association with Generalized Inflammatory Peeling Skin Syndrome. ( 25196305 )
2014
16
A Case of Inflammatory Generalized Type of Peeling Skin Syndrome Possibly Caused by a Homozygous Missense Mutation of CDSN. ( 25473393 )
2014
17
Inflammatory peeling skin syndrome caused by homozygous genomic deletion in the PSORS1 region encompassing the CDSN gene. ( 24372652 )
2014
18
Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations. ( 24628291 )
2014
19
Increased expression of epidermal thymic stromal lymphopoietin in inflammatory peeling skin syndrome. ( 24628284 )
2014
20
Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B. ( 23957618 )
2013
21
Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A. ( 23534700 )
2013
22
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
23
Acral peeling skin syndrome resembling epidermolysis bullosa simplex in a 10-month-old boy. ( 24019772 )
2013
24
A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome. ( 22036214 )
2012
25
Inflammatory peeling skin syndrome caused a novel mutation in CDSN. ( 22146835 )
2012
26
Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. ( 22289416 )
2012
27
TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome. ( 22622422 )
2012
28
Acral peeling skin syndrome in two East-African siblings: case report. ( 22429841 )
2012
29
Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder. ( 22066523 )
2012
30
Peeling skin syndrome in eight cases of four different families from India and Bangladesh. ( 22960820 )
2012
31
Netherton syndrome showing a large clinical overlap with generalized inflammatory peeling skin syndrome. ( 22562784 )
2012
32
Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin. ( 21191406 )
2011
33
Peeling skin syndrome: genetic defects in late terminal differentiation of the epidermis. ( 21307953 )
2011
34
Peeling skin syndrome: Current status. ( 20233567 )
2010
35
Generalized peeling skin syndrome: Case report and review of the literature. ( 20233558 )
2010
36
Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals. ( 20164844 )
2010
37
Acral peeling skin syndrome: a case of two brothers. ( 19706098 )
2009
38
A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family. ( 19440220 )
2009
39
Facial peeling skin syndrome: a case report and a brief review. ( 17343587 )
2007
40
A case of peeling skin syndrome successfully treated with topical calcipotriol. ( 16700837 )
2006
41
Peeling skin syndrome: 11 cases from Saudi Arabia. ( 17019101 )
2006
42
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
43
Inflammatory peeling skin syndrome studied with electron microscopy. ( 17014649 )
2006
44
Peeling skin syndrome. ( 16709496 )
2006
45
A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. ( 16380904 )
2005
46
Acral peeling skin syndrome: report of two cases. ( 15931780 )
2005
47
Peeling skin syndrome with aminoaciduria. ( 16060866 )
2005
48
Peeling skin syndrome. ( 17642582 )
2004
49
ComA"l-Netherton syndrome and peeling skin syndrome type B: overlapping syndromes or one entity? ( 12100700 )
2002
50
Acral peeling skin syndrome. ( 11100033 )
2000

Variations for Peeling Skin Syndrome

ClinVar genetic disease variations for Peeling Skin Syndrome:

6
(show top 50) (show all 76)
# Gene Variation Type Significance SNP ID Assembly Location
1 TGM5 NM_201631.3(TGM5): c.337G> T (p.Gly113Cys) single nucleotide variant Pathogenic rs112292549 GRCh37 Chromosome 15, 43552349: 43552349
2 TGM5 NM_201631.3(TGM5): c.337G> T (p.Gly113Cys) single nucleotide variant Pathogenic rs112292549 GRCh38 Chromosome 15, 43260151: 43260151
3 CDSN NM_001264.4(CDSN): c.175A> T (p.Lys59Ter) single nucleotide variant Pathogenic rs387906841 GRCh37 Chromosome 6, 31085217: 31085217
4 CDSN NM_001264.4(CDSN): c.175A> T (p.Lys59Ter) single nucleotide variant Pathogenic rs387906841 GRCh38 Chromosome 6, 31117440: 31117440
5 CDSN NM_001264.4(CDSN): c.746delG (p.Gly249Valfs) deletion Pathogenic rs672601343 GRCh37 Chromosome 6, 31084646: 31084646
6 CDSN NM_001264.4(CDSN): c.746delG (p.Gly249Valfs) deletion Pathogenic rs672601343 GRCh38 Chromosome 6, 31116869: 31116869
7 CDSN NM_001264.4(CDSN): c.164_167dupGCCT (p.Thr57Profs) duplication Pathogenic rs606231274 GRCh38 Chromosome 6, 31117448: 31117451
8 CDSN NM_001264.4(CDSN): c.164_167dupGCCT (p.Thr57Profs) duplication Pathogenic rs606231274 GRCh37 Chromosome 6, 31085225: 31085228
9 CDSN NM_001264.4(CDSN): c.424G> T (p.Gly142Ter) single nucleotide variant Pathogenic rs606231275 GRCh38 Chromosome 6, 31117191: 31117191
10 CDSN NM_001264.4(CDSN): c.424G> T (p.Gly142Ter) single nucleotide variant Pathogenic rs606231275 GRCh37 Chromosome 6, 31084968: 31084968
11 TGM5 NM_201631.3(TGM5): c.1252C> A (p.Gln418Lys) single nucleotide variant Uncertain significance rs144961145 GRCh37 Chromosome 15, 43531108: 43531108
12 TGM5 NM_201631.3(TGM5): c.1252C> A (p.Gln418Lys) single nucleotide variant Uncertain significance rs144961145 GRCh38 Chromosome 15, 43238910: 43238910
13 TGM5 NM_201631.3(TGM5): c.1209C> T (p.Cys403=) single nucleotide variant Uncertain significance rs375801160 GRCh37 Chromosome 15, 43531151: 43531151
14 TGM5 NM_201631.3(TGM5): c.1209C> T (p.Cys403=) single nucleotide variant Uncertain significance rs375801160 GRCh38 Chromosome 15, 43238953: 43238953
15 TGM5 NM_201631.3(TGM5): c.1055C> G (p.Ala352Gly) single nucleotide variant Benign rs28756768 GRCh37 Chromosome 15, 43531411: 43531411
16 TGM5 NM_201631.3(TGM5): c.1055C> G (p.Ala352Gly) single nucleotide variant Benign rs28756768 GRCh38 Chromosome 15, 43239213: 43239213
17 TGM5 NM_201631.3(TGM5): c.918C> T (p.His306=) single nucleotide variant Uncertain significance rs886051171 GRCh38 Chromosome 15, 43240935: 43240935
18 TGM5 NM_201631.3(TGM5): c.918C> T (p.His306=) single nucleotide variant Uncertain significance rs886051171 GRCh37 Chromosome 15, 43533133: 43533133
19 TGM5 NM_201631.3(TGM5): c.821G> A (p.Arg274His) single nucleotide variant Uncertain significance rs116616135 GRCh38 Chromosome 15, 43252800: 43252800
20 TGM5 NM_201631.3(TGM5): c.821G> A (p.Arg274His) single nucleotide variant Uncertain significance rs116616135 GRCh37 Chromosome 15, 43544998: 43544998
21 TGM5 NM_201631.3(TGM5): c.*430C> T single nucleotide variant Uncertain significance rs577285021 GRCh38 Chromosome 15, 43232761: 43232761
22 TGM5 NM_201631.3(TGM5): c.*430C> T single nucleotide variant Uncertain significance rs577285021 GRCh37 Chromosome 15, 43524959: 43524959
23 TGM5 NM_201631.3(TGM5): c.*252C> T single nucleotide variant Likely benign rs7176183 GRCh38 Chromosome 15, 43232939: 43232939
24 TGM5 NM_201631.3(TGM5): c.*252C> T single nucleotide variant Likely benign rs7176183 GRCh37 Chromosome 15, 43525137: 43525137
25 TGM5 NM_201631.3(TGM5): c.1820A> C (p.Glu607Ala) single nucleotide variant Likely benign rs80192997 GRCh37 Chromosome 15, 43527022: 43527022
26 TGM5 NM_201631.3(TGM5): c.1820A> C (p.Glu607Ala) single nucleotide variant Likely benign rs80192997 GRCh38 Chromosome 15, 43234824: 43234824
27 TGM5 NM_201631.3(TGM5): c.1773C> T (p.Asp591=) single nucleotide variant Uncertain significance rs142648722 GRCh37 Chromosome 15, 43527069: 43527069
28 TGM5 NM_201631.3(TGM5): c.1773C> T (p.Asp591=) single nucleotide variant Uncertain significance rs142648722 GRCh38 Chromosome 15, 43234871: 43234871
29 TGM5 NM_201631.3(TGM5): c.1562A> G (p.Gln521Arg) single nucleotide variant Uncertain significance rs35985214 GRCh37 Chromosome 15, 43527819: 43527819
30 TGM5 NM_201631.3(TGM5): c.1562A> G (p.Gln521Arg) single nucleotide variant Uncertain significance rs35985214 GRCh38 Chromosome 15, 43235621: 43235621
31 TGM5 NM_201631.3(TGM5): c.1498C> T (p.Arg500Ter) single nucleotide variant Uncertain significance rs144532387 GRCh37 Chromosome 15, 43527883: 43527883
32 TGM5 NM_201631.3(TGM5): c.1498C> T (p.Arg500Ter) single nucleotide variant Uncertain significance rs144532387 GRCh38 Chromosome 15, 43235685: 43235685
33 TGM5 NM_201631.3(TGM5): c.863-9T> C single nucleotide variant Uncertain significance rs770164232 GRCh38 Chromosome 15, 43240999: 43240999
34 TGM5 NM_201631.3(TGM5): c.863-9T> C single nucleotide variant Uncertain significance rs770164232 GRCh37 Chromosome 15, 43533197: 43533197
35 TGM5 NM_201631.3(TGM5): c.753C> T (p.Asn251=) single nucleotide variant Uncertain significance rs374414821 GRCh38 Chromosome 15, 43252868: 43252868
36 TGM5 NM_201631.3(TGM5): c.753C> T (p.Asn251=) single nucleotide variant Uncertain significance rs374414821 GRCh37 Chromosome 15, 43545066: 43545066
37 TGM5 NM_201631.3(TGM5): c.660C> T (p.Tyr220=) single nucleotide variant Benign rs555001 GRCh38 Chromosome 15, 43253530: 43253530
38 TGM5 NM_201631.3(TGM5): c.660C> T (p.Tyr220=) single nucleotide variant Benign rs555001 GRCh37 Chromosome 15, 43545728: 43545728
39 TGM5 NM_201631.3(TGM5): c.167A> T (p.Asn56Ile) single nucleotide variant Uncertain significance rs757831590 GRCh38 Chromosome 15, 43260423: 43260423
40 TGM5 NM_201631.3(TGM5): c.167A> T (p.Asn56Ile) single nucleotide variant Uncertain significance rs757831590 GRCh37 Chromosome 15, 43552621: 43552621
41 TGM5 NM_201631.3(TGM5): c.*56T> C single nucleotide variant Uncertain significance rs533062951 GRCh38 Chromosome 15, 43233135: 43233135
42 TGM5 NM_201631.3(TGM5): c.*56T> C single nucleotide variant Uncertain significance rs533062951 GRCh37 Chromosome 15, 43525333: 43525333
43 TGM5 NM_201631.3(TGM5): c.1822A> G (p.Lys608Glu) single nucleotide variant Likely benign rs76456763 GRCh37 Chromosome 15, 43527020: 43527020
44 TGM5 NM_201631.3(TGM5): c.1822A> G (p.Lys608Glu) single nucleotide variant Likely benign rs76456763 GRCh38 Chromosome 15, 43234822: 43234822
45 TGM5 NM_201631.3(TGM5): c.1510G> A (p.Val504Met) single nucleotide variant Likely benign rs7171797 GRCh37 Chromosome 15, 43527871: 43527871
46 TGM5 NM_201631.3(TGM5): c.1510G> A (p.Val504Met) single nucleotide variant Likely benign rs7171797 GRCh38 Chromosome 15, 43235673: 43235673
47 TGM5 NM_201631.3(TGM5): c.1471C> T (p.Pro491Ser) single nucleotide variant Uncertain significance rs552005220 GRCh37 Chromosome 15, 43527910: 43527910
48 TGM5 NM_201631.3(TGM5): c.1471C> T (p.Pro491Ser) single nucleotide variant Uncertain significance rs552005220 GRCh38 Chromosome 15, 43235712: 43235712
49 TGM5 NM_201631.3(TGM5): c.1309C> T (p.Arg437Trp) single nucleotide variant Uncertain significance rs375323388 GRCh37 Chromosome 15, 43531051: 43531051
50 TGM5 NM_201631.3(TGM5): c.1309C> T (p.Arg437Trp) single nucleotide variant Uncertain significance rs375323388 GRCh38 Chromosome 15, 43238853: 43238853

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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