PSS2
MCID: PLN018
MIFTS: 38

Peeling Skin Syndrome 2 (PSS2)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Peeling Skin Syndrome 2

MalaCards integrated aliases for Peeling Skin Syndrome 2:

Name: Peeling Skin Syndrome 2 57 72 29 6
Peeling Skin Syndrome, Acral Type 57 43 72 13 70
Acral Peeling Skin Syndrome 57 20 43 58 72
Apss 57 43 72
Localized Deciduous Skin 20 58
Acral Deciduous Skin 20 58
Localized Pss 20 58
Acral Pss 20 58
Pss2 57 72
Acral Peeling Skin Syndrome; Apss 57
Skin, Peeling, Syndrome, Type 2 39
Peeling Skin Syndrome Type a 72

Characteristics:

Orphanet epidemiological data:

58
acral peeling skin syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

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

Miscellaneous:
skin peeling exacerbated by heat, friction, and humidity
see also more severe phenotype peeling skin syndrome


HPO:

31
peeling skin syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 609796
OMIM Phenotypic Series 57 PS270300
MeSH 44 D003873
ICD10 via Orphanet 33 Q80.8
UMLS via Orphanet 71 C1853354
Orphanet 58 ORPHA263534
MedGen 41 C1853354
UMLS 70 C1853354

Summaries for Peeling Skin Syndrome 2

GARD : 20 Acral peeling skin syndrome is a genetic skin disorder characterized by painless peeling of the top layer of skin. "Acral" refers to the fact that the peeling is most apparent on the hands and feet, although peeling may also occur on the arms and legs. The peeling is usually present from birth, but can appear later in childhood or early adulthood. Acral peeling skin syndrome can be caused by mutations in the TGM5 gene. Mutations in the CSTA gene have also been linked to this condition. It is inherited in an autosomal recessive pattern. There is no cure for acral peeling skin syndrome. Treatment is aimed at treating the symptoms present in each individual.

MalaCards based summary : Peeling Skin Syndrome 2, also known as peeling skin syndrome, acral type, is related to peeling skin syndrome and peeling skin syndrome type a. An important gene associated with Peeling Skin Syndrome 2 is TGM5 (Transglutaminase 5), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include skin, and related phenotypes are ichthyosis and high hypermetropia

MedlinePlus Genetics : 43 Acral peeling skin syndrome is a skin disorder characterized by painless peeling of the top layer of skin. The term "acral" refers to the fact that the skin peeling in this condition is most apparent on the hands and feet. Occasionally, peeling also occurs on the arms and legs. The peeling is usually evident from birth, although the condition can also begin in childhood or later in life. Skin peeling is made worse by exposure to heat, humidity and other forms of moisture, and friction. The underlying skin may be temporarily red and itchy, but it typically heals without scarring. Acral peeling skin syndrome is not associated with any other health problems.

OMIM® : 57 Peeling skin syndrome (PSS) is an autosomal recessive genodermatosis characterized by the shedding of the outer epidermis. In an acral form of the disorder (PSS2), the dorsa of the hands and feet are predominantly affected, and ultrastructural analysis shows separation at the junction between the granular cells and the stratum corneum in the outer epidermis (summary by Cassidy et al., 2005). For a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 (270300). (609796) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Peeling skin syndrome 2: A non-inflammatory and localized form of peeling skin syndrome, a genodermatosis characterized by the continuous shedding of the outer layers of the epidermis. In PSS2 patients, skin peeling is painless and strictly limited to the dorsa of the hands and feet. It is accompanied by painless erythema and spontaneous non-scarring healing. Ultrastructural and histological analysis shows a level of blistering high in the epidermis at the stratum granulosum-stratum corneum junction.

Related Diseases for Peeling Skin Syndrome 2

Graphical network of the top 20 diseases related to Peeling Skin Syndrome 2:



Diseases related to Peeling Skin Syndrome 2

Symptoms & Phenotypes for Peeling Skin Syndrome 2

Human phenotypes related to Peeling Skin Syndrome 2:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 58 31 frequent (33%) Frequent (79-30%) HP:0008064
2 high hypermetropia 58 31 frequent (33%) Frequent (79-30%) HP:0008499
3 erythema 58 31 frequent (33%) Frequent (79-30%) HP:0010783
4 eczema 58 31 frequent (33%) Frequent (79-30%) HP:0000964
5 abnormal blistering of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0008066
6 scaling skin 58 31 frequent (33%) Frequent (79-30%) HP:0040189
7 allergy 58 31 frequent (33%) Frequent (79-30%) HP:0012393
8 macule 58 31 occasional (7.5%) Occasional (29-5%) HP:0012733
9 papule 58 31 occasional (7.5%) Occasional (29-5%) HP:0200034
10 skin erosion 58 31 occasional (7.5%) Occasional (29-5%) HP:0200041
11 hyperpigmentation of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000953
12 excessive wrinkling of palmar skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0007605

Symptoms via clinical synopsis from OMIM®:

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

Skin Nails Hair Skin Histology:
blistering at junction of stratum granulosum and stratum corneum

Skin Nails Hair Skin:
superficial skin peeling (limited to dorsa of hands and feet)
erythema, residual painless
spontaneous, non-scarring healing

Clinical features from OMIM®:

609796 (Updated 20-May-2021)

Drugs & Therapeutics for Peeling Skin Syndrome 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Economic and Clinical Outcomes of Attendance in Psychosis Services Using SMS: The ECO APSS Randomized Controlled Trial Unknown status NCT01793220

Search NIH Clinical Center for Peeling Skin Syndrome 2

Genetic Tests for Peeling Skin Syndrome 2

Genetic tests related to Peeling Skin Syndrome 2:

# Genetic test Affiliating Genes
1 Peeling Skin Syndrome 2 29 TGM5

Anatomical Context for Peeling Skin Syndrome 2

MalaCards organs/tissues related to Peeling Skin Syndrome 2:

40
Skin

Publications for Peeling Skin Syndrome 2

Articles related to Peeling Skin Syndrome 2:

(show all 31)
# Title Authors PMID Year
1
TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome. 61 6 57
22622422 2012
2
A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome. 57 6 61
22036214 2012
3
Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals. 6 57 61
20164844 2010
4
A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family. 57 6 61
19440220 2009
5
A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. 6 61 57
16380904 2005
6
Novel TGM5 mutations in acral peeling skin syndrome. 6 61
25644735 2015
7
Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations. 6 61
24628291 2014
8
Acral peeling skin syndrome resembling epidermolysis bullosa simplex in a 10-month-old boy. 6 61
24019772 2013
9
Acral peeling skin syndrome. 61 57
11100033 2000
10
Acral peeling skin syndrome. 57 61
9126018 1997
11
The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis. 6
29242947 2018
12
Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic. 6
26707537 2016
13
Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis. 61
32618001 2020
14
Exome-based search for recurrent disease-causing alleles in Russian population. 61
31028847 2019
15
Acral peeling skin syndrome: An underdiagnosed skin disorder. 61
30688214 2019
16
Transglutaminase diseases: from biochemistry to the bedside. 61
30593123 2019
17
Enhanced Proteolytic Activities in Acral Peeling Skin Syndrome: A Role of Transglutaminase 5 in Epidermal Homeostasis. 61
28395976 2017
18
Acral Peeling Skin Syndrome: A Case Report and Literature Review. 61
27206604 2016
19
Acral peeling skin syndrome associated with a novel CSTA gene mutation. 61
26684698 2016
20
Acral peeling skin syndrome resulting from mutations in TGM5. 61
25510201 2016
21
Hypercalciuria in a child with acral peeling skin syndrome: a case report. 61
25969915 2015
22
Cell cycle- and cancer-associated gene networks activated by Dsg2: evidence of cystatin A deregulation and a potential role in cell-cell adhesion. 61
25785582 2015
23
Adult-onset acral peeling skin syndrome in a non-identical twin: a case report in South Africa. 61
25549719 2014
24
[Acral peeling skin syndrome]. 61
24703651 2014
25
Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A. 61
23534700 2013
26
Keratolysis exfoliativa (dyshidrosis lamellosa sicca): a distinct peeling entity. 61
23039091 2012
27
Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder. 61
22066523 2012
28
Acral peeling skin syndrome in two East-African siblings: case report. 61
22429841 2012
29
Acral peeling skin syndrome: a case of two brothers. 61
19706098 2009
30
[Plantar acral peeling skin syndrome]. 61
19361715 2009
31
Acral peeling skin syndrome: report of two cases. 61
15931780 2005

Variations for Peeling Skin Syndrome 2

ClinVar genetic disease variations for Peeling Skin Syndrome 2:

6 (show top 50) (show all 63)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TGM5 NM_201631.4(TGM5):c.763T>C (p.Trp255Arg) SNV Pathogenic 157568 rs115677373 GRCh37: 15:43545056-43545056
GRCh38: 15:43252858-43252858
2 TGM5 NM_201631.4(TGM5):c.1811_1815delinsTCCTTCA (p.Ser604fs) Indel Pathogenic 157571 rs606231278 GRCh37: 15:43527027-43527031
GRCh38: 15:43234829-43234833
3 TGM5 NM_201631.4(TGM5):c.122T>C (p.Leu41Pro) SNV Pathogenic 157569 rs143601447 GRCh37: 15:43552666-43552666
GRCh38: 15:43260468-43260468
4 TGM5 NM_201631.4(TGM5):c.337G>T (p.Gly113Cys) SNV Pathogenic 6039 rs112292549 GRCh37: 15:43552349-43552349
GRCh38: 15:43260151-43260151
5 TGM5 NM_201631.4(TGM5):c.640del (p.Leu214fs) Deletion Pathogenic 157570 rs606231277 GRCh37: 15:43545748-43545748
GRCh38: 15:43253550-43253550
6 TGM5 NM_201631.4(TGM5):c.255del (p.Ser86fs) Deletion Likely pathogenic 631730 rs778322388 GRCh37: 15:43552431-43552431
GRCh38: 15:43260233-43260233
7 TGM5 NM_201631.4(TGM5):c.1689G>A (p.Ala563=) SNV Uncertain significance 316040 rs141734428 GRCh37: 15:43527692-43527692
GRCh38: 15:43235494-43235494
8 TGM5 NM_201631.4(TGM5):c.1335G>C (p.Lys445Asn) SNV Uncertain significance 157567 rs606231276 GRCh37: 15:43531025-43531025
GRCh38: 15:43238827-43238827
9 TGM5 NM_201631.4(TGM5):c.897C>G (p.Ile299Met) SNV Uncertain significance 316054 rs886051172 GRCh37: 15:43533154-43533154
GRCh38: 15:43240956-43240956
10 TGM5 NM_201631.4(TGM5):c.1252C>A (p.Gln418Lys) SNV Uncertain significance 316046 rs144961145 GRCh37: 15:43531108-43531108
GRCh38: 15:43238910-43238910
11 TGM5 NM_201631.4(TGM5):c.167A>T (p.Asn56Ile) SNV Uncertain significance 316063 rs757831590 GRCh37: 15:43552621-43552621
GRCh38: 15:43260423-43260423
12 TGM5 NM_201631.4(TGM5):c.1104C>T (p.Asn368=) SNV Uncertain significance 316049 rs150457385 GRCh37: 15:43531362-43531362
GRCh38: 15:43239164-43239164
13 TGM5 NM_201631.4(TGM5):c.1941G>A (p.Ser647=) SNV Uncertain significance 887462 GRCh37: 15:43525820-43525820
GRCh38: 15:43233622-43233622
14 TGM5 NM_201631.4(TGM5):c.1891G>C (p.Val631Leu) SNV Uncertain significance 887463 GRCh37: 15:43525870-43525870
GRCh38: 15:43233672-43233672
15 TGM5 NM_201631.4(TGM5):c.1868C>T (p.Thr623Met) SNV Uncertain significance 887642 GRCh37: 15:43526974-43526974
GRCh38: 15:43234776-43234776
16 TGM5 NM_201631.4(TGM5):c.1750T>C (p.Tyr584His) SNV Uncertain significance 887643 GRCh37: 15:43527092-43527092
GRCh38: 15:43234894-43234894
17 TGM5 NM_201631.4(TGM5):c.1716A>G (p.Ala572=) SNV Uncertain significance 887644 GRCh37: 15:43527126-43527126
GRCh38: 15:43234928-43234928
18 TGM5 NM_201631.4(TGM5):c.1714+14C>T SNV Uncertain significance 887645 GRCh37: 15:43527653-43527653
GRCh38: 15:43235455-43235455
19 TGM5 NM_201631.4(TGM5):c.607C>T (p.His203Tyr) SNV Uncertain significance 887702 GRCh37: 15:43545781-43545781
GRCh38: 15:43253583-43253583
20 TGM5 NM_201631.4(TGM5):c.600G>C (p.Lys200Asn) SNV Uncertain significance 887703 GRCh37: 15:43545788-43545788
GRCh38: 15:43253590-43253590
21 TGM5 NM_201631.4(TGM5):c.125C>A (p.Thr42Asn) SNV Uncertain significance 778097 rs148913728 GRCh37: 15:43552663-43552663
GRCh38: 15:43260465-43260465
22 TGM5 NM_201631.4(TGM5):c.1498C>T (p.Arg500Ter) SNV Uncertain significance 316043 rs144532387 GRCh37: 15:43527883-43527883
GRCh38: 15:43235685-43235685
23 TGM5 NM_201631.4(TGM5):c.1471C>T (p.Pro491Ser) SNV Uncertain significance 316044 rs552005220 GRCh37: 15:43527910-43527910
GRCh38: 15:43235712-43235712
24 TGM5 NM_201631.4(TGM5):c.1209C>T (p.Cys403=) SNV Uncertain significance 316047 rs375801160 GRCh37: 15:43531151-43531151
GRCh38: 15:43238953-43238953
25 TGM5 NM_201631.4(TGM5):c.821G>A (p.Arg274His) SNV Uncertain significance 316056 rs116616135 GRCh37: 15:43544998-43544998
GRCh38: 15:43252800-43252800
26 TGM5 NM_201631.4(TGM5):c.918C>T (p.His306=) SNV Uncertain significance 316053 rs886051171 GRCh37: 15:43533133-43533133
GRCh38: 15:43240935-43240935
27 TGM5 NM_201631.4(TGM5):c.*56T>C SNV Uncertain significance 316036 rs533062951 GRCh37: 15:43525333-43525333
GRCh38: 15:43233135-43233135
28 TGM5 NM_201631.4(TGM5):c.11-11C>A SNV Uncertain significance 316065 rs200870480 GRCh37: 15:43552788-43552788
GRCh38: 15:43260590-43260590
29 TGM5 NM_201631.4(TGM5):c.768G>A (p.Thr256=) SNV Uncertain significance 316057 rs200482481 GRCh37: 15:43545051-43545051
GRCh38: 15:43252853-43252853
30 TGM5 NM_201631.4(TGM5):c.*430C>T SNV Uncertain significance 316034 rs577285021 GRCh37: 15:43524959-43524959
GRCh38: 15:43232761-43232761
31 TGM5 NM_201631.4(TGM5):c.863-9T>C SNV Uncertain significance 316055 rs770164232 GRCh37: 15:43533197-43533197
GRCh38: 15:43240999-43240999
32 TGM5 NM_201631.4(TGM5):c.1552A>G (p.Asn518Asp) SNV Uncertain significance 884497 GRCh37: 15:43527829-43527829
GRCh38: 15:43235631-43235631
33 TGM5 NM_201631.4(TGM5):c.1239G>A (p.Glu413=) SNV Uncertain significance 884498 GRCh37: 15:43531121-43531121
GRCh38: 15:43238923-43238923
34 TGM5 NM_201631.4(TGM5):c.258C>G (p.Ser86Arg) SNV Uncertain significance 884559 GRCh37: 15:43552428-43552428
GRCh38: 15:43260230-43260230
35 TGM5 NM_201631.4(TGM5):c.1106-9C>G SNV Uncertain significance 885432 GRCh37: 15:43531263-43531263
GRCh38: 15:43239065-43239065
36 TGM5 NM_201631.4(TGM5):c.1080C>T (p.Asp360=) SNV Uncertain significance 885433 GRCh37: 15:43531386-43531386
GRCh38: 15:43239188-43239188
37 TGM5 NM_201631.4(TGM5):c.863-12C>T SNV Uncertain significance 886451 GRCh37: 15:43533200-43533200
GRCh38: 15:43241002-43241002
38 TGM5 NM_201631.4(TGM5):c.850G>A (p.Val284Ile) SNV Uncertain significance 886452 GRCh37: 15:43544969-43544969
GRCh38: 15:43252771-43252771
39 TGM5 NM_201631.4(TGM5):c.834C>T (p.Cys278=) SNV Uncertain significance 886453 GRCh37: 15:43544985-43544985
GRCh38: 15:43252787-43252787
40 TGM5 NM_201631.4(TGM5):c.820C>A (p.Arg274Ser) SNV Uncertain significance 886454 GRCh37: 15:43544999-43544999
GRCh38: 15:43252801-43252801
41 TGM5 NM_201631.4(TGM5):c.810C>T (p.Cys270=) SNV Uncertain significance 886455 GRCh37: 15:43545009-43545009
GRCh38: 15:43252811-43252811
42 TGM5 NM_201631.4(TGM5):c.*510A>G SNV Uncertain significance 887460 GRCh37: 15:43524879-43524879
GRCh38: 15:43232681-43232681
43 TGM5 NM_201631.4(TGM5):c.1820A>C (p.Glu607Ala) SNV Likely benign 316038 rs80192997 GRCh37: 15:43527022-43527022
GRCh38: 15:43234824-43234824
44 TGM5 NM_201631.4(TGM5):c.989A>T (p.Lys330Met) SNV Likely benign 316051 rs201805126 GRCh37: 15:43533062-43533062
GRCh38: 15:43240864-43240864
45 TGM5 NM_201631.4(TGM5):c.723C>G (p.Asn241Lys) SNV Likely benign 316059 rs35578968 GRCh37: 15:43545096-43545096
GRCh38: 15:43252898-43252898
46 TGM5 NM_201631.4(TGM5):c.282C>G (p.Thr94=) SNV Likely benign 316062 rs144607106 GRCh37: 15:43552404-43552404
GRCh38: 15:43260206-43260206
47 TGM5 NM_201631.4(TGM5):c.1773C>T (p.Asp591=) SNV Likely benign 316039 rs142648722 GRCh37: 15:43527069-43527069
GRCh38: 15:43234871-43234871
48 TGM5 NM_201631.4(TGM5):c.509A>G (p.Gln170Arg) SNV Likely benign 887704 GRCh37: 15:43548812-43548812
GRCh38: 15:43256614-43256614
49 TGM5 NM_201631.4(TGM5):c.960C>T (p.Asn320=) SNV Benign 316052 rs34222269 GRCh37: 15:43533091-43533091
GRCh38: 15:43240893-43240893
50 TGM5 NM_201631.4(TGM5):c.10+11C>T SNV Benign 316066 rs113296343 GRCh37: 15:43559027-43559027
GRCh38: 15:43266829-43266829

UniProtKB/Swiss-Prot genetic disease variations for Peeling Skin Syndrome 2:

72
# Symbol AA change Variation ID SNP ID
1 TGM5 p.Gly113Cys VAR_025849 rs112292549

Expression for Peeling Skin Syndrome 2

Search GEO for disease gene expression data for Peeling Skin Syndrome 2.

Pathways for Peeling Skin Syndrome 2

Pathways related to Peeling Skin Syndrome 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.17 TGM5 CSTA
2
Show member pathways
11.08 TGM5 CSTA

GO Terms for Peeling Skin Syndrome 2

Biological processes related to Peeling Skin Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cornification GO:0070268 8.96 TGM5 CSTA
2 peptide cross-linking GO:0018149 8.62 TGM5 CSTA

Sources for Peeling Skin 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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