MCID: GNR027
MIFTS: 14

Generalized Peeling Skin Syndrome

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Generalized Peeling Skin Syndrome

MalaCards integrated aliases for Generalized Peeling Skin Syndrome:

Name: Generalized Peeling Skin Syndrome 53 59
Generalized Deciduous Skin 53 59
Generalized Pss 53 59

Characteristics:

Orphanet epidemiological data:

59
generalized peeling skin syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

ICD10 via Orphanet 34 Q80.8
Orphanet 59 ORPHA263543

Summaries for Generalized Peeling Skin Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 263543DefinitionGeneralized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form (see these terms). PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy.Visit the Orphanet disease page for more resources.

MalaCards based summary : Generalized Peeling Skin Syndrome, also known as generalized deciduous skin, is related to peeling skin syndrome type a and peeling skin syndrome 1. Affiliated tissues include skin.

Related Diseases for Generalized Peeling Skin Syndrome

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

# Related Disease Score Top Affiliating Genes
1 peeling skin syndrome type a 12.0
2 peeling skin syndrome 1 11.5
3 peeling skin syndrome type c 11.5
4 peeling skin syndrome 9.9
5 ichthyosis 9.9

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



Diseases related to Generalized Peeling Skin Syndrome

Symptoms & Phenotypes for Generalized Peeling Skin Syndrome

Drugs & Therapeutics for Generalized Peeling Skin Syndrome

Search Clinical Trials , NIH Clinical Center for Generalized Peeling Skin Syndrome

Genetic Tests for Generalized Peeling Skin Syndrome

Anatomical Context for Generalized Peeling Skin Syndrome

MalaCards organs/tissues related to Generalized Peeling Skin Syndrome:

41
Skin

Publications for Generalized Peeling Skin Syndrome

Articles related to Generalized Peeling Skin Syndrome:

# Title Authors PMID Year
1
Inflammatory peeling skin syndrome caused a novel mutation in CDSN. 38 71
22146835 2012
2
Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. 38 71
22289416 2012
3
Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B. 71
23957618 2013
4
Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin. 71
21191406 2011
5
Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. 71
20691404 2010
6
Peeling skin syndrome: a clinical, ultrastructural and biochemical study. 71
2434123 1987
7
Safety Profile of High-Dose Botulinum Toxin Type A in Post-Stroke Spasticity Treatment. 38
30209743 2018
8
Homozygous deletion of six genes including corneodesmosin on chromosome 6p21.3 is associated with generalized peeling skin disease. 38
24794518 2014
9
Peeling skin syndrome: genetic defects in late terminal differentiation of the epidermis. 38
21307953 2011
10
Generalized peeling skin syndrome: Case report and review of the literature. 38
20233558 2010

Variations for Generalized Peeling Skin Syndrome

Expression for Generalized Peeling Skin Syndrome

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

Pathways for Generalized Peeling Skin Syndrome

GO Terms for Generalized Peeling Skin Syndrome

Sources for Generalized Peeling Skin Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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