PSS1
MCID: PLN017
MIFTS: 34

Peeling Skin Syndrome 1 (PSS1)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Peeling Skin Syndrome 1

MalaCards integrated aliases for Peeling Skin Syndrome 1:

Name: Peeling Skin Syndrome 1 58 76 74
Deciduous Skin 58 77 76
Keratolysis Exfoliativa Congenita 58 76
Peeling Skin Syndrome Type B 60 76
Pss1 58 76
Skin Peeling, Familial Continuous Generalized 58
Skin Peeling Familial Continuous Generalized 76
Generalized Peeling Skin Syndrome Type B 60
Inflammatory Peeling Skin Syndrome 60
Generalized Deciduous Skin Type B 60
Skin, Peeling, Syndrome, Type 1 41
Peeling Skin Syndrome 74
Pss Type B 60
Pss 58
Pse 77

Characteristics:

Orphanet epidemiological data:

60
peeling skin syndrome type b
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
acral form of skin peeling limited to hands and feet
two subtypes noninflammatory type a and inflammatory type b
see also peeling skin syndrome, acral type


HPO:

33
peeling skin syndrome 1:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


Summaries for Peeling Skin Syndrome 1

OMIM : 58 Peeling skin syndrome is a rare genodermatosis with variable age of onset from birth to adulthood. Clinically, it is characterized by a pruritic or nonpruritic spontaneous superficial peeling of the skin, which sometimes is accompanied by erythema or vesiculation. The skin involvement is usually general, but in some patients the scalp, face, palms, and soles may be unaffected. Seasonal changes have been reported. The histologic picture is characterized by separation of the epidermis between the statum corneum and the stratum granulosum (summary by Hacham-Zadeh and Holubar, 1985). Generalized PSS has been subclassified into a noninflammatory type, designated type A, and an inflammatory type, designated type B (Traupe, 1989; Judge et al., 2004). Type B, in which generalized peeling skin is associated with pruritus and atopy, is characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly thereafter. Several patients have been reported with high IgE levels (summary by Oji et al., 2010). Type A, a continuous nonerythematous exfoliation, is usually congenital or appears during childhood (summary by Mallet et al., 2013). (270300)

MalaCards based summary : Peeling Skin Syndrome 1, also known as deciduous skin, is related to peeling skin syndrome and potocki-shaffer syndrome. An important gene associated with Peeling Skin Syndrome 1 is CDSN (Corneodesmosin), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include skin and thyroid, and related phenotypes are short stature and abnormality of metabolism/homeostasis

UniProtKB/Swiss-Prot : 76 Peeling skin syndrome 1: A genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non-inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels.

Wikipedia : 77 Peeling skin syndrome (also known as "Acral peeling skin syndrome", "Continual peeling skin syndrome",... more...

Related Diseases for Peeling Skin Syndrome 1

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 6
Peeling Skin Syndrome Type C Peeling Skin Syndrome Type a

Diseases related to Peeling Skin Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 peeling skin syndrome 30.9 CDSN TGM5
2 potocki-shaffer syndrome 12.2
3 generalized peeling skin syndrome 12.0
4 photosensitive epilepsy 12.0
5 systemic scleroderma 11.4
6 peeling skin syndrome type c 11.2
7 peeling skin syndrome 2 11.1
8 peeling skin syndrome 3 11.1
9 peeling skin syndrome 5 11.1
10 peeling skin syndrome 6 11.1
11 peeling skin syndrome type a 11.1
12 posttransplant acute limbic encephalitis 10.7
13 scleroderma, familial progressive 10.4
14 hepatic encephalopathy 10.4
15 encephalopathy 10.4
16 sjogren syndrome 10.3
17 netherton syndrome 10.2
18 retinoblastoma 10.2
19 hepatic coma 10.2
20 rheumatoid arthritis 10.1
21 ichthyosis vulgaris 10.0
22 dermatitis, atopic 10.0
23 skin conditions 10.0
24 ichthyosis 10.0
25 dermatitis 10.0
26 retinitis pigmentosa 10.0
27 epilepsy 10.0
28 malignant hyperthermia 10.0
29 banti's syndrome 10.0
30 alcohol dependence 9.9
31 breast cancer 9.9
32 popliteal pterygium syndrome 9.9
33 lymphoma, mucosa-associated lymphoid type 9.9
34 hashimoto thyroiditis 9.9
35 raynaud disease 9.9
36 tetralogy of fallot 9.9
37 triiodothyronine receptor auxiliary protein 9.9
38 autism 9.9
39 polycythemia vera 9.9
40 intraocular pressure quantitative trait locus 9.9
41 membranous nephropathy 9.9
42 nevus comedonicus 9.9
43 hepatitis 9.9
44 hereditary hemorrhagic telangiectasia 9.9
45 joint disorders 9.9
46 autism spectrum disorder 9.9
47 lymphoma 9.9
48 crest syndrome 9.9
49 portal hypertension 9.9
50 telangiectasis 9.9

Graphical network of the top 20 diseases related to Peeling Skin Syndrome 1:



Diseases related to Peeling Skin Syndrome 1

Symptoms & Phenotypes for Peeling Skin Syndrome 1

Human phenotypes related to Peeling Skin Syndrome 1:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 short stature 33 HP:0004322
2 abnormality of metabolism/homeostasis 33 HP:0001939
3 scaling skin 33 HP:0040189
4 pruritus 33 HP:0000989
5 asthma 33 HP:0002099
6 erythema 33 HP:0010783
7 onycholysis 33 HP:0001806
8 brittle hair 33 HP:0002299
9 abnormality of hair texture 33 HP:0010719
10 increased circulating total ige level 33 HP:0003212

Symptoms via clinical synopsis from OMIM:

58
Growth Height:
short stature

Skin Nails Hair Hair:
fragile hair

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

Immunology:
elevated levels of serum ige

Respiratory Airways:
asthma

Skin Nails Hair Skin:
superficial generalized lifelong skin peeling (sparing palms and soles)
generalized erythema (inflammatory type b)
pruritus (inflammatory type b)
vesicular lesions (inflammatory type b)

Skin Nails Hair Nails:
onycholysis, distal

Laboratory Abnormalities:
low plasma tryptophan (inflammatory type b)

Clinical features from OMIM:

270300

Drugs & Therapeutics for Peeling Skin Syndrome 1

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 Completed 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 1

Genetic Tests for Peeling Skin Syndrome 1

Anatomical Context for Peeling Skin Syndrome 1

MalaCards organs/tissues related to Peeling Skin Syndrome 1:

42
Skin, Thyroid

Publications for Peeling Skin Syndrome 1

Articles related to Peeling Skin Syndrome 1:

# Title Authors Year
1
Idiopathic deciduous skin. ( 7095956 )
1982

Variations for Peeling Skin Syndrome 1

ClinVar genetic disease variations for Peeling Skin Syndrome 1:

6 (show top 50) (show all 80)
# 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 TGM5 NM_201631.3(TGM5): c.314G> A (p.Cys105Tyr) single nucleotide variant Likely benign rs116753155 GRCh38 Chromosome 15, 43260174: 43260174
6 TGM5 NM_201631.3(TGM5): c.314G> A (p.Cys105Tyr) single nucleotide variant Likely benign rs116753155 GRCh37 Chromosome 15, 43552372: 43552372
7 TGM5 NM_201631.3(TGM5): c.326C> T (p.Thr109Met) single nucleotide variant Likely benign rs113463533 GRCh38 Chromosome 15, 43260162: 43260162
8 TGM5 NM_201631.3(TGM5): c.326C> T (p.Thr109Met) single nucleotide variant Likely benign rs113463533 GRCh37 Chromosome 15, 43552360: 43552360
9 CDSN NM_001264.4(CDSN): c.746delG (p.Gly249Valfs) deletion Pathogenic rs672601343 GRCh37 Chromosome 6, 31084646: 31084646
10 CDSN NM_001264.4(CDSN): c.746delG (p.Gly249Valfs) deletion Pathogenic rs672601343 GRCh38 Chromosome 6, 31116869: 31116869
11 CDSN NM_001264.4(CDSN): c.164_167dupGCCT (p.Thr57Profs) duplication Pathogenic rs606231274 GRCh38 Chromosome 6, 31117448: 31117451
12 CDSN NM_001264.4(CDSN): c.164_167dupGCCT (p.Thr57Profs) duplication Pathogenic rs606231274 GRCh37 Chromosome 6, 31085225: 31085228
13 CDSN NM_001264.4(CDSN): c.424G> T (p.Gly142Ter) single nucleotide variant Pathogenic rs606231275 GRCh38 Chromosome 6, 31117191: 31117191
14 CDSN NM_001264.4(CDSN): c.424G> T (p.Gly142Ter) single nucleotide variant Pathogenic rs606231275 GRCh37 Chromosome 6, 31084968: 31084968
15 TGM5 NM_201631.3(TGM5): c.1252C> A (p.Gln418Lys) single nucleotide variant Uncertain significance rs144961145 GRCh37 Chromosome 15, 43531108: 43531108
16 TGM5 NM_201631.3(TGM5): c.1252C> A (p.Gln418Lys) single nucleotide variant Uncertain significance rs144961145 GRCh38 Chromosome 15, 43238910: 43238910
17 TGM5 NM_201631.3(TGM5): c.1209C> T (p.Cys403=) single nucleotide variant Uncertain significance rs375801160 GRCh37 Chromosome 15, 43531151: 43531151
18 TGM5 NM_201631.3(TGM5): c.1209C> T (p.Cys403=) single nucleotide variant Uncertain significance rs375801160 GRCh38 Chromosome 15, 43238953: 43238953
19 TGM5 NM_201631.3(TGM5): c.1055C> G (p.Ala352Gly) single nucleotide variant Benign rs28756768 GRCh37 Chromosome 15, 43531411: 43531411
20 TGM5 NM_201631.3(TGM5): c.1055C> G (p.Ala352Gly) single nucleotide variant Benign rs28756768 GRCh38 Chromosome 15, 43239213: 43239213
21 TGM5 NM_201631.3(TGM5): c.918C> T (p.His306=) single nucleotide variant Uncertain significance rs886051171 GRCh38 Chromosome 15, 43240935: 43240935
22 TGM5 NM_201631.3(TGM5): c.918C> T (p.His306=) single nucleotide variant Uncertain significance rs886051171 GRCh37 Chromosome 15, 43533133: 43533133
23 TGM5 NM_201631.3(TGM5): c.821G> A (p.Arg274His) single nucleotide variant Uncertain significance rs116616135 GRCh38 Chromosome 15, 43252800: 43252800
24 TGM5 NM_201631.3(TGM5): c.821G> A (p.Arg274His) single nucleotide variant Uncertain significance rs116616135 GRCh37 Chromosome 15, 43544998: 43544998
25 TGM5 NM_201631.3(TGM5): c.*430C> T single nucleotide variant Uncertain significance rs577285021 GRCh38 Chromosome 15, 43232761: 43232761
26 TGM5 NM_201631.3(TGM5): c.*430C> T single nucleotide variant Uncertain significance rs577285021 GRCh37 Chromosome 15, 43524959: 43524959
27 TGM5 NM_201631.3(TGM5): c.*252C> T single nucleotide variant Likely benign rs7176183 GRCh38 Chromosome 15, 43232939: 43232939
28 TGM5 NM_201631.3(TGM5): c.*252C> T single nucleotide variant Likely benign rs7176183 GRCh37 Chromosome 15, 43525137: 43525137
29 TGM5 NM_201631.3(TGM5): c.1820A> C (p.Glu607Ala) single nucleotide variant Likely benign rs80192997 GRCh37 Chromosome 15, 43527022: 43527022
30 TGM5 NM_201631.3(TGM5): c.1820A> C (p.Glu607Ala) single nucleotide variant Likely benign rs80192997 GRCh38 Chromosome 15, 43234824: 43234824
31 TGM5 NM_201631.3(TGM5): c.1773C> T (p.Asp591=) single nucleotide variant Uncertain significance rs142648722 GRCh37 Chromosome 15, 43527069: 43527069
32 TGM5 NM_201631.3(TGM5): c.1773C> T (p.Asp591=) single nucleotide variant Uncertain significance rs142648722 GRCh38 Chromosome 15, 43234871: 43234871
33 TGM5 NM_201631.3(TGM5): c.1562A> G (p.Gln521Arg) single nucleotide variant Uncertain significance rs35985214 GRCh37 Chromosome 15, 43527819: 43527819
34 TGM5 NM_201631.3(TGM5): c.1562A> G (p.Gln521Arg) single nucleotide variant Uncertain significance rs35985214 GRCh38 Chromosome 15, 43235621: 43235621
35 TGM5 NM_201631.3(TGM5): c.1498C> T (p.Arg500Ter) single nucleotide variant Uncertain significance rs144532387 GRCh37 Chromosome 15, 43527883: 43527883
36 TGM5 NM_201631.3(TGM5): c.1498C> T (p.Arg500Ter) single nucleotide variant Uncertain significance rs144532387 GRCh38 Chromosome 15, 43235685: 43235685
37 TGM5 NM_201631.3(TGM5): c.167A> T (p.Asn56Ile) single nucleotide variant Uncertain significance rs757831590 GRCh38 Chromosome 15, 43260423: 43260423
38 TGM5 NM_201631.3(TGM5): c.863-9T> C single nucleotide variant Uncertain significance rs770164232 GRCh38 Chromosome 15, 43240999: 43240999
39 TGM5 NM_201631.3(TGM5): c.863-9T> C single nucleotide variant Uncertain significance rs770164232 GRCh37 Chromosome 15, 43533197: 43533197
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.753C> T (p.Asn251=) single nucleotide variant Uncertain significance rs374414821 GRCh38 Chromosome 15, 43252868: 43252868
42 TGM5 NM_201631.3(TGM5): c.753C> T (p.Asn251=) single nucleotide variant Uncertain significance rs374414821 GRCh37 Chromosome 15, 43545066: 43545066
43 TGM5 NM_201631.3(TGM5): c.660C> T (p.Tyr220=) single nucleotide variant Benign rs555001 GRCh38 Chromosome 15, 43253530: 43253530
44 TGM5 NM_201631.3(TGM5): c.660C> T (p.Tyr220=) single nucleotide variant Benign rs555001 GRCh37 Chromosome 15, 43545728: 43545728
45 TGM5 NM_201631.3(TGM5): c.*56T> C single nucleotide variant Uncertain significance rs533062951 GRCh38 Chromosome 15, 43233135: 43233135
46 TGM5 NM_201631.3(TGM5): c.*56T> C single nucleotide variant Uncertain significance rs533062951 GRCh37 Chromosome 15, 43525333: 43525333
47 TGM5 NM_201631.3(TGM5): c.1822A> G (p.Lys608Glu) single nucleotide variant Likely benign rs76456763 GRCh37 Chromosome 15, 43527020: 43527020
48 TGM5 NM_201631.3(TGM5): c.1822A> G (p.Lys608Glu) single nucleotide variant Likely benign rs76456763 GRCh38 Chromosome 15, 43234822: 43234822
49 TGM5 NM_201631.3(TGM5): c.1510G> A (p.Val504Met) single nucleotide variant Likely benign rs7171797 GRCh37 Chromosome 15, 43527871: 43527871
50 TGM5 NM_201631.3(TGM5): c.1510G> A (p.Val504Met) single nucleotide variant Likely benign rs7171797 GRCh38 Chromosome 15, 43235673: 43235673

Expression for Peeling Skin Syndrome 1

Search GEO for disease gene expression data for Peeling Skin Syndrome 1.

Pathways for Peeling Skin Syndrome 1

Pathways related to Peeling Skin Syndrome 1 according to GeneCards Suite gene sharing:

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

GO Terms for Peeling Skin Syndrome 1

Biological processes related to Peeling Skin Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cornification GO:0070268 8.96 CDSN TGM5
2 epidermis development GO:0008544 8.62 CDSN TGM5

Sources for Peeling Skin Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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