MCID: PLN018
MIFTS: 37

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 53 71
Peeling Skin Syndrome, Acral Type 53 24 71 28 13 69
Acral Peeling Skin Syndrome 53 49 24 55 71 36
Apss 53 24 71
Localized Deciduous Skin 49 55
Acral Deciduous Skin 49 55
Localized Pss 49 55
Acral Pss 49 55
Pss2 53 71
Acral Peeling Skin Syndrome; Apss 53
Peeling Skin Syndrome Type a 71

Characteristics:

Orphanet epidemiological data:

55
acral peeling skin syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

53
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: 55  
Rare skin diseases


Summaries for Peeling Skin Syndrome 2

NIH Rare Diseases : 49 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. Last updated: 4/14/2016

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, and has symptoms including macule, ichthyosis and scaling skin. 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.

Genetics Home Reference : 24 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 : 53 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 : 71 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 31.4 CSTA TGM5
2 peeling skin syndrome 3 11.5
3 autoimmune polyendocrine syndrome 11.2
4 peeling skin syndrome 1 11.1
5 epidermolysis bullosa 10.1
6 epidermolysis bullosa simplex 10.1
7 hypercalciuria, absorptive, 2 10.0

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:

53
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:

55 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macule 55 31 occasional (7.5%) Occasional (29-5%) HP:0012733
2 ichthyosis 55 31 frequent (33%) Frequent (79-30%) HP:0008064
3 scaling skin 55 31 frequent (33%) Frequent (79-30%) HP:0040189
4 abnormal blistering of the skin 55 31 frequent (33%) Frequent (79-30%) HP:0008066
5 erythema 55 31 frequent (33%) Frequent (79-30%) HP:0010783
6 eczema 55 31 frequent (33%) Frequent (79-30%) HP:0000964
7 papule 55 31 occasional (7.5%) Occasional (29-5%) HP:0200034
8 skin erosion 55 31 occasional (7.5%) Occasional (29-5%) HP:0200041
9 hyperpigmentation of the skin 55 31 occasional (7.5%) Occasional (29-5%) HP:0000953
10 allergy 55 31 frequent (33%) Frequent (79-30%) HP:0012393
11 excessive wrinkling of palmar skin 55 31 occasional (7.5%) Occasional (29-5%) HP:0007605
12 high-grade hypermetropia 55 Frequent (79-30%)
13 high hypermetropia 31 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 28 TGM5

Anatomical Context for Peeling Skin Syndrome 2

MalaCards organs/tissues related to Peeling Skin Syndrome 2:

38
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
Novel TGM5 mutations in acral peeling skin syndrome. ( 25644735 )
2015
5
Hypercalciuria in a child with acral peeling skin syndrome: a case report. ( 25969915 )
2015
6
Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations. ( 24628291 )
2014
7
Adult-onset acral peeling skin syndrome in a non-identical twin: a case report in South Africa. ( 25549719 )
2014
8
Acral peeling skin syndrome resulting from mutations in TGM5. ( 25510201 )
2014
9
Acral peeling skin syndrome resembling epidermolysis bullosa simplex in a 10-month-old boy. ( 24019772 )
2013
10
Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A. ( 23534700 )
2013
11
Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder. ( 22066523 )
2012
12
Acral peeling skin syndrome in two East-African siblings: case report. ( 22429841 )
2012
13
TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome. ( 22622422 )
2012
14
A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome. ( 22036214 )
2012
15
Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals. ( 20164844 )
2010
16
A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family. ( 19440220 )
2009
17
Acral peeling skin syndrome: a case of two brothers. ( 19706098 )
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:

71
# Symbol AA change Variation ID SNP ID
1 TGM5 p.Gly113Cys VAR_025849 rs112292549

ClinVar genetic disease variations for Peeling Skin Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TGM5 NM_201631.3(TGM5): c.1335G> C (p.Lys445Asn) single nucleotide variant Pathogenic rs606231276 GRCh38 Chromosome 15, 43238827: 43238827
2 TGM5 NM_201631.3(TGM5): c.763T> C (p.Trp255Arg) single nucleotide variant Pathogenic rs115677373 GRCh38 Chromosome 15, 43252858: 43252858
3 TGM5 NM_201631.3(TGM5): c.122T> C (p.Leu41Pro) single nucleotide variant Pathogenic/Likely pathogenic rs143601447 GRCh38 Chromosome 15, 43260468: 43260468
4 TGM5 NM_201631.3(TGM5): c.640delC (p.Leu214Cysfs) deletion Pathogenic rs606231277 GRCh38 Chromosome 15, 43253550: 43253550
5 TGM5 NM_201631.3(TGM5): c.1811_1815delGCAGTinsTCCTTCA (p.Ser604Ilefs) indel Pathogenic rs606231278 GRCh38 Chromosome 15, 43234829: 43234833
6 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 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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