PSS4
MCID: PLN024
MIFTS: 26

Peeling Skin Syndrome 4 (PSS4)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Peeling Skin Syndrome 4

MalaCards integrated aliases for Peeling Skin Syndrome 4:

Name: Peeling Skin Syndrome 4 57 72 29 6
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-Like 13 70
Pss4 57 72
Arei 57 72
Ichthyosis, Exfoliative, Autosomal Recessive, Ichthyosis Bullosa of Siemens-Like 72
Exfoliative Ichthyosis Autosomal Recessive Ibs-Like 72
Ichthyosis, Exfoliative, Autosomal Recessive; Arei 57
Ichthyosis, Exfoliative, Autosomal Recessive 57
Exfoliative Ichthyosis, Autosomal Recessive 72
Ichthyosis Bullosa of Siemens-Like 57
Skin, Peeling, Syndrome, Type 4 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
peeling skin syndrome 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 607936
OMIM Phenotypic Series 57 PS270300
MeSH 44 D007057
UMLS 70 C1842797

Summaries for Peeling Skin Syndrome 4

UniProtKB/Swiss-Prot : 72 Peeling skin syndrome 4: A genodermatosis characterized by congenital exfoliative ichthyosis, sharing some features with ichthyosis bullosa of Siemens and annular epidermolytic ichthyosis. PSS4 presents shortly after birth as dry, scaly skin over most of the body with coarse peeling of non- erythematous skin on the palms and soles, which is exacerbated by excessive moisture and minor trauma. Electron microscopy analysis of skin biopsies, reveals mostly normal-appearing upper layers of the epidermis, but prominent intercellular edema of the basal and suprabasal cell layers with aggregates of tonofilaments in the basal keratinocytes.

MalaCards based summary : Peeling Skin Syndrome 4, also known as exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like, is related to autosomal recessive epidermolytic ichthyosis and prostatic hyperplasia, benign. An important gene associated with Peeling Skin Syndrome 4 is CSTA (Cystatin A). Affiliated tissues include skin, and related phenotypes are nail dystrophy and epidermal acanthosis

More information from OMIM: 607936 PS270300

Related Diseases for Peeling Skin Syndrome 4

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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal recessive epidermolytic ichthyosis 11.0
2 prostatic hyperplasia, benign 9.9
3 prostatic hypertrophy 9.9
4 prostatic adenoma 9.9

Symptoms & Phenotypes for Peeling Skin Syndrome 4

Human phenotypes related to Peeling Skin Syndrome 4:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 nail dystrophy 31 occasional (7.5%) HP:0008404
2 epidermal acanthosis 31 occasional (7.5%) HP:0025092
3 ichthyosis 31 HP:0008064
4 palmoplantar keratoderma 31 HP:0000982
5 lichenification 31 HP:0100725
6 scaling skin 31 HP:0040189
7 orthokeratosis 31 HP:0040162

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin:
hyperkeratosis
palmoplantar keratoderma
lichenification
well-circumscribed peeling of the skin on the extremities and neck (easily elicited by moisture and minor trauma)
generalized dry skin with fine scaling and sparing of face (in some patients)
more
Skin Nails Hair Skin Histology:
orthokeratosis, nonspecific basket-weave
acanthosis (in some patients)
multiple layers of loosely packed, less densely stained, swollen cells in the stratum corneum (in some patients)
cleavage within stratum corneum and immediate subcorneal layer (in some patients)
thickened granular zone
more
Skin Nails Hair Nails:
onychodystrophy, mild, of the toenails (rare)

Skin Nails Hair Hair:
normal

Skin Nails Hair Skin Electron Microscopy:
reduced cornified envelope thickness
separation between corneocytes (in some patients)
cytolysis and fragmentation of keratin filaments in corneocytes (in some patients)
disturbed lamellar lipid organization in the stratum corneum (in some patients)
swollen cells with loosely assembled filament bundles in the stratum lucidum (in some patients)
more

Clinical features from OMIM®:

607936 (Updated 05-Apr-2021)

Drugs & Therapeutics for Peeling Skin Syndrome 4

Search Clinical Trials , NIH Clinical Center for Peeling Skin Syndrome 4

Genetic Tests for Peeling Skin Syndrome 4

Genetic tests related to Peeling Skin Syndrome 4:

# Genetic test Affiliating Genes
1 Peeling Skin Syndrome 4 29 CSTA

Anatomical Context for Peeling Skin Syndrome 4

MalaCards organs/tissues related to Peeling Skin Syndrome 4:

40
Skin

Publications for Peeling Skin Syndrome 4

Articles related to Peeling Skin Syndrome 4:

(show all 20)
# Title Authors PMID Year
1
Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA. 6 57
25400170 2015
2
Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A. 57 6
23534700 2013
3
Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder. 57 6
22066523 2012
4
Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion. 6 57
21944047 2011
5
An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13. 57 6
12890214 2003
6
Accurately Assessing Gay Men's Erectile Functioning: A Critique of the International Index of Erectile Function (IIEF) Use with Gay Men. 61
33044087 2020
7
Ingestion of bar soap may produce serious injury: clinical effects and risk factors. 61
30307335 2019
8
Real-World Evidence from the Integrative Medicine Primary Care Trial (IMPACT): Assessing Patient-Reported Outcomes at Baseline and 12-Month Follow-Up. 61
31346339 2019
9
The eggplant AG91-25 recognizes the Type III-secreted effector RipAX2 to trigger resistance to bacterial wilt (Ralstonia solanacearum species complex). 61
30073750 2018
10
Genotyping by Sequencing Highlights a Polygenic Resistance to Ralstonia pseudosolanacearum in Eggplant (Solanum melongena L.). 61
29370090 2018
11
Employment status and health related quality of life among Hodgkin-lymphoma survivors'- results based on data from a major treatment center in Hungary. 61
28927453 2017
12
Characterization and evaluation of Bacillus amyloliquefaciens strain WF02 regarding its biocontrol activities and genetic responses against bacterial wilt in two different resistant tomato cultivars. 61
27646210 2016
13
Hungarian adaptation of the Tinnitus Handicap Inventory: reliability and validity. 61
24970290 2015
14
Roles of different forms of lipopolysaccharides in Ralstonia solanacearum pathogenesis. 61
24580105 2014
15
Genetic mapping of a major dominant gene for resistance to Ralstonia solanacearum in eggplant. 61
22930132 2013
16
Associations between obesity (BMI and waist circumference) and socio-demographic factors, physical activity, dietary habits, life events, resilience, mood, perceived stress and hopelessness in healthy older Europeans. 61
22686278 2012
17
Resistance of tomato line Hawaii7996 to Ralstonia solanacearum Pss4 in Taiwan is controlled mainly by a major strain-specific locus. 61
10656580 2000
18
Cloning and characterization of four genes of Rhizobium leguminosarum bv. trifolii involved in exopolysaccharide production and nodulation. 61
9057334 1997
19
The pss4 gene from Rhizobium leguminosarum by viciae VF39: cloning, sequence and the possible role in polysaccharide production and nodule formation. 61
7959035 1994
20
[Plasmids of the cyanobacterium Synechocystis sp. 6803]. 61
3025718 1985

Variations for Peeling Skin Syndrome 4

ClinVar genetic disease variations for Peeling Skin Syndrome 4:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CSTA NM_005213.4(CSTA):c.67-2A>T SNV Pathogenic 29892 rs398122804 GRCh37: 3:122056392-122056392
GRCh38: 3:122337545-122337545
2 CSTA NM_005213.4(CSTA):c.256C>T (p.Gln86Ter) SNV Pathogenic 29893 rs387906689 GRCh37: 3:122060373-122060373
GRCh38: 3:122341526-122341526
3 CSTA NM_005213.4(CSTA):c.172C>T (p.Arg58Ter) SNV Pathogenic 208473 rs149474339 GRCh37: 3:122060289-122060289
GRCh38: 3:122341442-122341442
4 CSTA NM_005213.4(CSTA):c.64A>T (p.Lys22Ter) SNV Pathogenic 208472 rs747711488 GRCh37: 3:122044203-122044203
GRCh38: 3:122325356-122325356

Expression for Peeling Skin Syndrome 4

Search GEO for disease gene expression data for Peeling Skin Syndrome 4.

Pathways for Peeling Skin Syndrome 4

GO Terms for Peeling Skin Syndrome 4

Sources for Peeling Skin Syndrome 4

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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