PSS1
MCID: PLN017
MIFTS: 39

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 57 73 29 6 71
Deciduous Skin 57 74 73
Keratolysis Exfoliativa Congenita 57 73
Peeling Skin Syndrome Type B 58 73
Pss1 57 73
Skin Peeling, Familial Continuous Generalized 57
Skin Peeling Familial Continuous Generalized 73
Generalized Peeling Skin Syndrome Type B 58
Inflammatory Peeling Skin Syndrome 58
Generalized Deciduous Skin Type B 58
Skin, Peeling, Syndrome, Type 1 39
Peeling Skin Syndrome 71
Pss Type B 58
Pss 57

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Mar-2021)
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:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 270300
OMIM Phenotypic Series 57 PS270300
MeSH 44 D003873
ICD10 via Orphanet 33 Q80.8
Orphanet 58 ORPHA263553
MedGen 41 C1849193
UMLS 71 C1849193 C3891449

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) (Updated 05-Mar-2021)

MalaCards based summary : Peeling Skin Syndrome 1, also known as deciduous skin, is related to generalized peeling skin syndrome and peeling skin syndrome. An important gene associated with Peeling Skin Syndrome 1 is CDSN (Corneodesmosin), and among its related pathways/superpathways is Keratinization. Affiliated tissues include skin, brain and kidney, and related phenotypes are short stature and asthma

UniProtKB/Swiss-Prot : 73 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 : 74 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 122)
# Related Disease Score Top Affiliating Genes
1 generalized peeling skin syndrome 32.0 TGM5 CDSN
2 peeling skin syndrome 31.5 TGM5 PSORS1C1 CDSN
3 psoriasis 1 29.5 PSORS1C1 CDSN
4 psoriasis 29.5 PSORS1C1 CDSN
5 potocki-shaffer syndrome 11.5
6 peeling skin syndrome type c 11.1
7 lenz-majewski hyperostotic dwarfism 11.1
8 peeling skin syndrome type a 10.9
9 peeling skin syndrome 2 10.9
10 peeling skin syndrome 3 10.9
11 peeling skin syndrome 5 10.9
12 peeling skin syndrome 6 10.9
13 scleroderma, familial progressive 10.6
14 systemic scleroderma 10.4
15 netherton syndrome 10.4
16 prostatic hyperplasia, benign 10.3
17 prostatic hypertrophy 10.3
18 prostatic adenoma 10.3
19 connective tissue disease 10.2
20 ichthyosis vulgaris 10.1
21 dermatitis, atopic 10.1
22 keratosis 10.1
23 ichthyosis 10.1
24 dermatitis 10.1
25 raynaud phenomenon 10.1
26 post-traumatic stress disorder 10.1
27 localized scleroderma 10.1
28 iga glomerulonephritis 10.1
29 erythrokeratoderma ''en cocardes'' 10.1
30 single ventricular heart 10.1
31 autoimmune disease 10.0
32 telangiectasis 10.0
33 pustulosis of palm and sole 10.0
34 thyroiditis 10.0
35 dysphagia 10.0
36 alzheimer disease 9.9
37 rapidly involuting congenital hemangioma 9.9
38 myositis 9.9
39 membranous nephropathy 9.9
40 crest syndrome 9.9
41 dermatomyositis 9.9
42 portal hypertension 9.9
43 respiratory failure 9.9
44 esophagitis 9.9
45 peptic esophagitis 9.9
46 diffuse scleroderma 9.9
47 calcinosis 9.9
48 blood platelet disease 9.9
49 glomerulonephritis 9.9
50 mixed connective tissue disease 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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 short stature 31 HP:0004322
2 asthma 31 HP:0002099
3 erythema 31 HP:0010783
4 abnormality of metabolism/homeostasis 31 HP:0001939
5 pruritus 31 HP:0000989
6 onycholysis 31 HP:0001806
7 brittle hair 31 HP:0002299
8 abnormality of hair texture 31 HP:0010719
9 scaling skin 31 HP:0040189
10 increased circulating ige level 31 HP:0003212

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

Drugs & Therapeutics for Peeling Skin Syndrome 1

Search Clinical Trials , NIH Clinical Center for Peeling Skin Syndrome 1

Genetic Tests for Peeling Skin Syndrome 1

Genetic tests related to Peeling Skin Syndrome 1:

# Genetic test Affiliating Genes
1 Peeling Skin Syndrome 1 29 CDSN

Anatomical Context for Peeling Skin Syndrome 1

MalaCards organs/tissues related to Peeling Skin Syndrome 1:

40
Skin, Brain, Kidney, Liver, Pituitary

Publications for Peeling Skin Syndrome 1

Articles related to Peeling Skin Syndrome 1:

(show top 50) (show all 68)
# Title Authors PMID Year
1
Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B. 6 57
23957618 2013
2
Inflammatory peeling skin syndrome caused a novel mutation in CDSN. 57 6
22146835 2012
3
Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin. 6 57
21191406 2011
4
Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. 57 6
20691404 2010
5
Peeling skin syndrome: a clinical, ultrastructural and biochemical study. 6 57
2434123 1987
6
A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. 57
16380904 2005
7
Skin peeling syndrome in a Kurdish family. 57
3977379 1985
8
Familial continual skin peeling. 57
6840371 1983
9
[Familial continual desquamation]. 57
6224454 1983
10
The peeling skin syndrome. 57
7142468 1982
11
Familial continual skin peeling. 57
5775067 1969
12
Silencing of rice PPR gene PPS1 exhibited enhanced sensibility to abiotic stress and remarkable accumulation of ROS. 61
33429329 2021
13
Phosphatidylserine biosynthesis pathways in lipid homeostasis: Toward resolution of the pending central issue for decades. 61
33205488 2021
14
Daily rhythms in endocrine factors of the somatotropic axis and their receptors in gilthead sea bream (Sparus aurata) larvae. 61
32805414 2020
15
Buprenorphine exposures in adolescents and adults: a 10-year experience of a French Poison Control Center. 61
33174237 2020
16
Unintentional exposure to pregabalin in ≤6-year-old children: a nationwide French Poison Control Center study. 61
33006482 2020
17
Development of a pathogenesis-based therapy for peeling skin syndrome type 1. 61
32926582 2020
18
Cytological and transcriptome analysis reveal that interaction at Sb pollen sterility locus cause down-regulation of important meiosis-related genes associated with high pollen sterility in autotetraploid rice hybrids. 61
31132695 2019
19
Changes in Body Growth and Growth-Related Genes under Different Photoperiods in Olive Flounder, Paralichthys olivaceus. 61
31321355 2019
20
Suppression of respiratory growth defect of mitochondrial phosphatidylserine decarboxylase deficient mutant by overproduction of Sfh1, a Sec14 homolog, in yeast. 61
30958856 2019
21
Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages. 61
31231513 2019
22
Shifts in gut microbiota composition in an APP/PSS1 transgenic mouse model of Alzheimer's disease during lifespan. 61
29575030 2018
23
Arabidopsis Novel Glycine-Rich Plasma Membrane PSS1 Protein Enhances Disease Resistance in Transgenic Soybean Plants. 61
29101280 2018
24
The HEM Lines: A New Library of Homozygous Arabidopsis thaliana EMS Mutants and its Potential to Detect Meiotic Phenotypes. 61
30283471 2018
25
Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions. 61
27044099 2016
26
Lenz-Majewski syndrome: How a single mutation leads to complex changes in lipid metabolism. 61
30854527 2016
27
Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1. 61
25363158 2015
28
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. 61
24241535 2014
29
Cellular and humoral immune responses against the Plasmodium vivax MSP-1₁₉ malaria vaccine candidate in individuals living in an endemic area in north-eastern Amazon region of Brazil. 61
24041406 2013
30
Phosphatidylserine synthase 1 is required for inflorescence meristem and organ development in Arabidopsis. 61
23931744 2013
31
Phosphatidylserine synthase 2: high efficiency for synthesizing phosphatidylserine containing docosahexaenoic acid. 61
23071296 2013
32
Involvement of complex sphingolipids and phosphatidylserine in endosomal trafficking in yeast Saccharomyces cerevisiae. 61
23062277 2012
33
Arabidopsis nonhost resistance gene PSS1 confers immunity against an oomycete and a fungal pathogen but not a bacterial pathogen that cause diseases in soybean. 61
22694952 2012
34
[Pediatric poisoning with triptans: review of cases in the Lille poison center between 2000 and 2010]. 61
22306360 2012
35
PHOSPHATIDYLSERINE SYNTHASE1 is required for microspore development in Arabidopsis thaliana. 61
21554450 2011
36
Pollen semi-sterility1 encodes a kinesin-1-like protein important for male meiosis, anther dehiscence, and fertility in rice. 61
21282525 2011
37
N-Myc and SP regulate phosphatidylserine synthase-1 expression in brain and glial cells. 61
21068393 2011
38
Requirement of a specific group of sphingolipid-metabolizing enzyme for growth of yeast Saccharomyces cerevisiae under impaired metabolism of glycerophospholipids. 61
20979339 2010
39
The cortistatin gene PSS2 rather than the somatostatin gene PSS1 is strongly expressed in developing avian autonomic neurons. 61
20058310 2010
40
Regulation of preprosomatostatin 1 (PSS1) gene expression by 17beta-estradiol and identification of the PSS1 promoter region in orange-spotted grouper (Epinephelus coioides). 61
19559750 2009
41
Functional analyses of immediate early gene ETR101 expressed in yeast. 61
19584537 2009
42
Purification and characterization of human phosphatidylserine synthases 1 and 2. 61
19014349 2009
43
Distribution of somatostatin immunoreactive neurons and fibres in the central nervous system of a chondrostean, the Siberian sturgeon (Acipenser baeri). 61
18400215 2008
44
Defining the importance of phosphatidylserine synthase-1 (PSS1): unexpected viability of PSS1-deficient mice. 61
18343815 2008
45
Potato steroidal glycoalkaloid levels and the expression of key isoprenoid metabolic genes. 61
17701426 2007
46
Neuronal specific increase of phosphatidylserine by docosahexaenoic acid. 61
17901548 2007
47
Role of Leishmania (Leishmania) amazonensis amastigote glycosphingolipids in macrophage infectivity. 61
17581678 2007
48
Inhibition of phosphatidylserine biosynthesis in developing rat brain by maternal exposure to ethanol. 61
17387686 2007
49
Fine mapping of pss1, a pollen semi-sterile gene in rice (Oryza sativa L.). 61
17279367 2007
50
Externalization of phosphatidylserine during apoptosis does not specifically require either isoform of phosphatidylserine synthase. 61
14984733 2004

Variations for Peeling Skin Syndrome 1

ClinVar genetic disease variations for Peeling Skin Syndrome 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CDSN NM_001264.5(CDSN):c.175A>T (p.Lys59Ter) SNV Pathogenic 30269 rs387906841 6:31085217-31085217 6:31117440-31117440
2 CDSN NM_001264.5(CDSN):c.746del (p.Gly249fs) Deletion Pathogenic 157563 rs672601343 6:31084646-31084646 6:31116869-31116869
3 CDSN NM_001264.5(CDSN):c.164_167dup (p.Thr57fs) Duplication Pathogenic 157564 rs606231274 6:31085224-31085225 6:31117447-31117448
4 CDSN NM_001264.5(CDSN):c.424G>T (p.Gly142Ter) SNV Pathogenic 157565 rs606231275 6:31084968-31084968 6:31117191-31117191
5 TGM5 NM_201631.4(TGM5):c.640del (p.Leu214fs) Deletion Pathogenic 157570 rs606231277 15:43545748-43545748 15:43253550-43253550
6 TGM5 NM_201631.4(TGM5):c.684+1G>A SNV Likely pathogenic 803071 rs755087362 15:43545703-43545703 15:43253505-43253505
7 CDSN NM_001264.5(CDSN):c.1459G>A (p.Gly487Ser) SNV Likely pathogenic 802195 rs1246486951 6:31083933-31083933 6:31116156-31116156
8 TGM5 NM_201631.4(TGM5):c.753C>T (p.Asn251=) SNV Uncertain significance 316058 rs374414821 15:43545066-43545066 15:43252868-43252868
9 CDSN NM_001264.5(CDSN):c.1358G>A (p.Ser453Asn) SNV Benign 802196 rs117951780 6:31084034-31084034 6:31116257-31116257

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
11.08 TGM5 CDSN

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 TGM5 CDSN
2 epidermis development GO:0008544 8.62 TGM5 CDSN

Sources for Peeling Skin Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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