MCID: PLN018
MIFTS: 36

Peeling Skin Syndrome 2

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 75
Peeling Skin Syndrome, Acral Type 57 25 75 29 13 6 73
Acral Peeling Skin Syndrome 57 53 25 59 75
Apss 57 25 75
Localized Deciduous Skin 53 59
Acral Deciduous Skin 53 59
Localized Pss 53 59
Acral Pss 53 59
Pss2 57 75
Acral Peeling Skin Syndrome; Apss 57
Skin, Peeling, Syndrome, Type 2 40
Peeling Skin Syndrome Type a 75

Characteristics:

Orphanet epidemiological data:

59
acral peeling skin syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
peeling skin syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


Summaries for Peeling Skin Syndrome 2

Genetics Home Reference : 25 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.

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 3. 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 eczema and ichthyosis

NIH Rare Diseases : 53 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 anĀ autosomal recessiveĀ pattern. There is no cure for acral peeling skin syndrome. Treatment is aimed at treating the symptoms present in each individual.

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)

UniProtKB/Swiss-Prot : 75 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

Diseases in the Peeling Skin Syndrome family:

Peeling Skin Syndrome 1 Peeling Skin Syndrome 4
Peeling Skin Syndrome 2 Peeling Skin Syndrome 3
Peeling Skin Syndrome 5 Peeling Skin Syndrome Type C

Diseases related to Peeling Skin Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 peeling skin syndrome 30.8 CSTA TGM5
2 peeling skin syndrome 3 11.8
3 autoimmune polyendocrine syndrome 11.2
4 peeling skin syndrome 1 11.1
5 epidermolysis bullosa 10.1
6 epidermolysis bullosa simplex 10.1

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Peeling Skin Syndrome 2:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eczema 59 32 frequent (33%) Frequent (79-30%) HP:0000964
2 ichthyosis 59 32 frequent (33%) Frequent (79-30%) HP:0008064
3 abnormal blistering of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0008066
4 erythema 59 32 frequent (33%) Frequent (79-30%) HP:0010783
5 allergy 59 32 frequent (33%) Frequent (79-30%) HP:0012393
6 scaling skin 59 32 frequent (33%) Frequent (79-30%) HP:0040189
7 hyperpigmentation of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000953
8 excessive wrinkling of palmar skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0007605
9 macule 59 32 occasional (7.5%) Occasional (29-5%) HP:0012733
10 papule 59 32 occasional (7.5%) Occasional (29-5%) HP:0200034
11 skin erosion 59 32 occasional (7.5%) Occasional (29-5%) HP:0200041
12 high-grade hypermetropia 59 Frequent (79-30%)
13 high hypermetropia 32 frequent (33%) HP:0008499

Drugs & Therapeutics for Peeling Skin Syndrome 2

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

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, Acral Type 29 TGM5

Anatomical Context for Peeling Skin Syndrome 2

MalaCards organs/tissues related to Peeling Skin Syndrome 2:

41
Skin

Publications for Peeling Skin Syndrome 2

Articles related to Peeling Skin Syndrome 2:

(show all 21)
# Title Authors Year
1
Enhanced Proteolytic Activities in Acral Peeling Skin Syndrome: A Role of Transglutaminase 5 in Epidermal Homeostasis. ( 28395976 )
2017
2
Acral peeling skin syndrome associated with a novel CSTA gene mutation. ( 26684698 )
2016
3
Acral Peeling Skin Syndrome: A Case Report and Literature Review. ( 27206604 )
2016
4
Hypercalciuria in a child with acral peeling skin syndrome: a case report. ( 25969915 )
2015
5
Novel TGM5 mutations in acral peeling skin syndrome. ( 25644735 )
2015
6
Acral peeling skin syndrome resulting from mutations in TGM5. ( 25510201 )
2014
7
Adult-onset acral peeling skin syndrome in a non-identical twin: a case report in South Africa. ( 25549719 )
2014
8
Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations. ( 24628291 )
2014
9
Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A. ( 23534700 )
2013
10
Acral peeling skin syndrome resembling epidermolysis bullosa simplex in a 10-month-old boy. ( 24019772 )
2013
11
A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome. ( 22036214 )
2012
12
TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome. ( 22622422 )
2012
13
Acral peeling skin syndrome in two East-African siblings: case report. ( 22429841 )
2012
14
Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder. ( 22066523 )
2012
15
Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals. ( 20164844 )
2010
16
Acral peeling skin syndrome: a case of two brothers. ( 19706098 )
2009
17
A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family. ( 19440220 )
2009
18
A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. ( 16380904 )
2005
19
Acral peeling skin syndrome: report of two cases. ( 15931780 )
2005
20
Acral peeling skin syndrome. ( 11100033 )
2000
21
Acral peeling skin syndrome. ( 9126018 )
1997

Variations for Peeling Skin Syndrome 2

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

75
# Symbol AA change Variation ID SNP ID
1 TGM5 p.Gly113Cys VAR_025849 rs112292549

ClinVar genetic disease variations for Peeling Skin Syndrome 2:

6
(show all 12)
# 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 TGM5 NM_201631.3(TGM5): c.1335G> C (p.Lys445Asn) single nucleotide variant Pathogenic rs606231276 GRCh38 Chromosome 15, 43238827: 43238827
4 TGM5 NM_201631.3(TGM5): c.1335G> C (p.Lys445Asn) single nucleotide variant Pathogenic rs606231276 GRCh37 Chromosome 15, 43531025: 43531025
5 TGM5 NM_201631.3(TGM5): c.763T> C (p.Trp255Arg) single nucleotide variant Pathogenic rs115677373 GRCh38 Chromosome 15, 43252858: 43252858
6 TGM5 NM_201631.3(TGM5): c.763T> C (p.Trp255Arg) single nucleotide variant Pathogenic rs115677373 GRCh37 Chromosome 15, 43545056: 43545056
7 TGM5 NM_201631.3(TGM5): c.122T> C (p.Leu41Pro) single nucleotide variant Likely pathogenic rs143601447 GRCh38 Chromosome 15, 43260468: 43260468
8 TGM5 NM_201631.3(TGM5): c.122T> C (p.Leu41Pro) single nucleotide variant Likely pathogenic rs143601447 GRCh37 Chromosome 15, 43552666: 43552666
9 TGM5 NM_201631.3(TGM5): c.640delC (p.Leu214Cysfs) deletion Pathogenic rs606231277 GRCh38 Chromosome 15, 43253550: 43253550
10 TGM5 NM_201631.3(TGM5): c.640delC (p.Leu214Cysfs) deletion Pathogenic rs606231277 GRCh37 Chromosome 15, 43545748: 43545748
11 TGM5 NM_201631.3(TGM5): c.1811_1815delGCAGTinsTCCTTCA (p.Ser604Ilefs) indel Pathogenic rs606231278 GRCh38 Chromosome 15, 43234829: 43234833
12 TGM5 NM_201631.3(TGM5): c.1811_1815delGCAGTinsTCCTTCA (p.Ser604Ilefs) indel Pathogenic rs606231278 GRCh37 Chromosome 15, 43527027: 43527031

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 CSTA TGM5
2
Show member pathways
11.08 CSTA TGM5

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 CSTA TGM5
2 peptide cross-linking GO:0018149 8.62 CSTA TGM5

Sources for Peeling Skin Syndrome 2

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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