PSS6
MCID: PLN028
MIFTS: 24

Peeling Skin Syndrome 6 (PSS6)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Peeling Skin Syndrome 6

MalaCards integrated aliases for Peeling Skin Syndrome 6:

Name: Peeling Skin Syndrome 6 57 72 29 6
Pss6 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
skin lesions improve with age


HPO:

31
peeling skin syndrome 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 618084
OMIM Phenotypic Series 57 PS270300
MeSH 44 D003873

Summaries for Peeling Skin Syndrome 6

UniProtKB/Swiss-Prot : 72 Peeling skin syndrome 6: A form of peeling skin syndrome, 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. PSS6 patients manifest generalized ichthyotic dry skin, and bullous peeling lesions on the trunk and limbs at sites of minor trauma. Skin symptoms are exacerbated by warmth and humidity. PSS6 inheritance is autosomal recessive.

MalaCards based summary : Peeling Skin Syndrome 6, also known as pss6, is related to peeling skin syndrome and ichthyosis vulgaris. An important gene associated with Peeling Skin Syndrome 6 is FLG2 (Filaggrin Family Member 2). Affiliated tissues include skin, and related phenotypes are pruritus and parakeratosis

OMIM® : 57 Peeling skin syndrome-6 is characterized by generalized ichthyotic dry skin and bullous peeling lesions on the trunk and limbs at sites of minor trauma. There is residual hyperpigmentation in areas of healing, but no scarring. Skin symptoms are exacerbated by warmth and humidity; however, the disorder improves markedly with age (Bolling et al., 2018; Mohamad et al., 2018). For a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 (270300). (618084) (Updated 20-May-2021)

Related Diseases for Peeling Skin Syndrome 6

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

# Related Disease Score Top Affiliating Genes
1 peeling skin syndrome 9.6 FLG2 FLG-AS1
2 ichthyosis vulgaris 9.5 FLG2 FLG-AS1

Symptoms & Phenotypes for Peeling Skin Syndrome 6

Human phenotypes related to Peeling Skin Syndrome 6:

31
# Description HPO Frequency HPO Source Accession
1 pruritus 31 HP:0000989
2 parakeratosis 31 HP:0001036
3 orthokeratosis 31 HP:0040162

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin:
pruritus
generalized dryness
diffuse fine scales
bullae (primarily on trunk and flexural surface of arms)
painless peeling of skin
more
Skin Nails Hair Skin Electron Microscopy:
separation within stratum corneum
separation extending to granular layer
intact lamina densa and lucida
reduced number of keratohyalin granules
misshapen keratohyalin granules
more
Skin Nails Hair Skin Histology:
parakeratosis
orthokeratosis
thin epidermis
subcorneal separation

Clinical features from OMIM®:

618084 (Updated 20-May-2021)

Drugs & Therapeutics for Peeling Skin Syndrome 6

Search Clinical Trials , NIH Clinical Center for Peeling Skin Syndrome 6

Genetic Tests for Peeling Skin Syndrome 6

Genetic tests related to Peeling Skin Syndrome 6:

# Genetic test Affiliating Genes
1 Peeling Skin Syndrome 6 29 FLG2

Anatomical Context for Peeling Skin Syndrome 6

MalaCards organs/tissues related to Peeling Skin Syndrome 6:

40
Skin

Publications for Peeling Skin Syndrome 6

Articles related to Peeling Skin Syndrome 6:

# Title Authors PMID Year
1
Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A. 57 6
29758285 2018
2
Generalized Ichthyotic Peeling Skin Syndrome due to FLG2 Mutations. 6 57
29505760 2018
3
Peeling skin syndrome associated with novel variant in FLG2 gene. 57 6
28884927 2017
4
Cloning, sequencing, and expression of a chitinase-encoding gene from Bacillus circulans No. 4.1. 61
11821923 2002

Variations for Peeling Skin Syndrome 6

ClinVar genetic disease variations for Peeling Skin Syndrome 6:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FLG-AS1 , FLG2 NM_001014342.3(FLG2):c.6711T>G (p.Tyr2237Ter) SNV Pathogenic 998361 GRCh37: 1:152323551-152323551
GRCh38: 1:152351075-152351075
2 FLG-AS1 , FLG2 NM_001014342.3(FLG2):c.3101_3104del (p.Gln1034fs) Deletion Pathogenic 1028935 GRCh37: 1:152327158-152327161
GRCh38: 1:152354682-152354685
3 FLG-AS1 , FLG2 NM_001014342.3(FLG2):c.4564del (p.His1522fs) Deletion Pathogenic 1028936 GRCh37: 1:152325698-152325698
GRCh38: 1:152353222-152353222
4 FLG-AS1 , FLG2 NM_001014342.3(FLG2):c.6852_6855del (p.Arg2284fs) Deletion Pathogenic 1028937 GRCh37: 1:152323407-152323410
GRCh38: 1:152350931-152350934
5 FLG-AS1 , FLG2 NM_001014342.3(FLG2):c.3939_3940dup (p.Thr1314fs) Duplication Pathogenic 1031727 GRCh37: 1:152326321-152326322
GRCh38: 1:152353845-152353846
6 FLG-AS1 , FLG2 NM_001014342.3(FLG2):c.632C>G (p.Ser211Ter) SNV Pathogenic 559518 rs1050823116 GRCh37: 1:152329630-152329630
GRCh38: 1:152357154-152357154
7 FLG-AS1 , FLG2 NM_001014342.3(FLG2):c.1065T>A (p.Tyr355Ter) SNV Pathogenic 559519 rs1553219199 GRCh37: 1:152329197-152329197
GRCh38: 1:152356721-152356721
8 FLG-AS1 , FLG2 NM_001014342.3(FLG2):c.2595_2825del (p.Ser869_Thr945del) Deletion Benign 982974 GRCh37: 1:152327437-152327667
GRCh38: 1:152354961-152355191

Expression for Peeling Skin Syndrome 6

Search GEO for disease gene expression data for Peeling Skin Syndrome 6.

Pathways for Peeling Skin Syndrome 6

GO Terms for Peeling Skin Syndrome 6

Sources for Peeling Skin Syndrome 6

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