MCID: PLN017
MIFTS: 35

Peeling Skin Syndrome 1

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Peeling Skin Syndrome 1

MalaCards integrated aliases for Peeling Skin Syndrome 1:

Name: Peeling Skin Syndrome 1 57 75 73
Deciduous Skin 57 76 75
Keratolysis Exfoliativa Congenita 57 75
Peeling Skin Syndrome Type B 59 75
Pss1 57 75
Skin Peeling, Familial Continuous Generalized 57
Skin Peeling Familial Continuous Generalized 75
Generalized Peeling Skin Syndrome Type B 59
Inflammatory Peeling Skin Syndrome 59
Generalized Deciduous Skin Type B 59
Skin, Peeling, Syndrome, Type 1 40
Peeling Skin Syndrome 73
Pss Type B 59
Pss 57
Pse 76

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
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:

32
peeling skin syndrome 1:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


Summaries for Peeling Skin Syndrome 1

OMIM : 57 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 related phenotypes are pruritus and onycholysis

UniProtKB/Swiss-Prot : 75 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 : 76 Peeling skin syndrome (also known as \"Acral peeling skin syndrome,\" \"Continual peeling skin... 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 Type C

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 peeling skin syndrome 31.4 CDSN TGM5
2 potocki-shaffer syndrome 12.0
3 generalized peeling skin syndrome 11.8
4 photosensitive epilepsy 11.8
5 peeling skin syndrome 2 10.9
6 peeling skin syndrome 3 10.9
7 peeling skin syndrome 5 10.9
8 encephalopathy 10.1
9 hepatitis 10.0
10 hepatic encephalopathy 10.0
11 breast cancer 9.8
12 portal hypertension 9.8
13 prostatitis 9.8
14 epilepsy 9.8
15 banti's syndrome 9.8

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Peeling Skin Syndrome 1:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 pruritus 32 HP:0000989
2 onycholysis 32 HP:0001806
3 abnormality of metabolism/homeostasis 32 HP:0001939
4 asthma 32 HP:0002099
5 brittle hair 32 HP:0002299
6 increased ige level 32 HP:0003212
7 short stature 32 HP:0004322
8 abnormality of hair texture 32 HP:0010719
9 erythema 32 HP:0010783
10 scaling skin 32 HP:0040189

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 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 1

Genetic Tests for Peeling Skin Syndrome 1

Anatomical Context for Peeling Skin Syndrome 1

MalaCards organs/tissues related to Peeling Skin Syndrome 1:

41
Skin

Publications for Peeling Skin Syndrome 1

Articles related to Peeling Skin Syndrome 1:

# Title Authors Year
1
Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B. ( 23957618 )
2013
2
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
3
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
4
ComA"l-Netherton syndrome and peeling skin syndrome type B: overlapping syndromes or one entity? ( 12100700 )
2002
5
Comel-Netherton syndrome: evolution of manifestation in a 20-year follow-up and phenotypic overlap with peeling skin syndrome type B. ( 10954215 )
2000

Variations for Peeling Skin Syndrome 1

ClinVar genetic disease variations for Peeling Skin Syndrome 1:

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 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 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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