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 53 71 69
Deciduous Skin 53 72 71
Keratolysis Exfoliativa Congenita 53 71
Peeling Skin Syndrome Type B 55 71
Pss1 53 71
Skin Peeling, Familial Continuous Generalized 53
Skin Peeling Familial Continuous Generalized 71
Generalized Peeling Skin Syndrome Type B 55
Inflammatory Peeling Skin Syndrome 55
Generalized Deciduous Skin Type B 55
Peeling Skin Syndrome 69
Pss Type B 55
Pss 53
Pse 72

Characteristics:

Orphanet epidemiological data:

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

OMIM:

53
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:

31
peeling skin syndrome 1:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare skin diseases


Summaries for Peeling Skin Syndrome 1

OMIM : 53 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 photosensitive epilepsy, and has symptoms including pruritus, onycholysis and abnormality of metabolism/homeostasis. 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.

UniProtKB/Swiss-Prot : 71 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 : 72 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 12)
# Related Disease Score Top Affiliating Genes
1 peeling skin syndrome 31.9 CDSN TGM5
2 photosensitive epilepsy 11.8
3 potocki-shaffer syndrome 11.7
4 peeling skin syndrome 2 10.9
5 peeling skin syndrome 3 10.9
6 peeling skin syndrome 5 10.9
7 encephalopathy 10.1
8 hepatitis 10.0
9 hepatic encephalopathy 10.0
10 portal hypertension 9.9
11 prostatitis 9.9
12 epilepsy 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

Symptoms via clinical synopsis from OMIM:

53
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:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 pruritus 31 HP:0000989
2 onycholysis 31 HP:0001806
3 abnormality of metabolism/homeostasis 31 HP:0001939
4 asthma 31 HP:0002099
5 brittle hair 31 HP:0002299
6 increased ige level 31 HP:0003212
7 short stature 31 HP:0004322
8 erythema 31 HP:0010783
9 scaling skin 31 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
3 Effect of Pumpkin Seeds on the Dietary Fatty Acid Intake and Blood Pressure in Women Withdrawn NCT01928966

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:

38
Skin

Publications for Peeling Skin Syndrome 1

Articles related to Peeling Skin Syndrome 1:

# Title Authors Year
1
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
2
Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B. ( 23957618 )
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
# Gene Variation Type Significance SNP ID Assembly Location
1 CDSN NM_001264.4(CDSN): c.175A> T (p.Lys59Ter) single nucleotide variant Pathogenic rs387906841 GRCh37 Chromosome 6, 31085217: 31085217
2 CDSN NM_001264.4(CDSN): c.746delG (p.Gly249Valfs) deletion Pathogenic rs672601343 GRCh37 Chromosome 6, 31084646: 31084646
3 CDSN NM_001264.4(CDSN): c.164_167dupGCCT (p.Thr57Profs) duplication Pathogenic rs606231274 GRCh38 Chromosome 6, 31117448: 31117451
4 CDSN NM_001264.4(CDSN): c.424G> T (p.Gly142Ter) single nucleotide variant Pathogenic rs606231275 GRCh38 Chromosome 6, 31117191: 31117191
5 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 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
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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