PSS6
MCID: PLN028
MIFTS: 18

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 58 76 6
Pss6 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
skin lesions improve with age


Classifications:



External Ids:

OMIM 58 618084
MeSH 45 D003873
MedGen 43 CN252690

Summaries for Peeling Skin Syndrome 6

UniProtKB/Swiss-Prot : 76 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, is also known as pss6. An important gene associated with Peeling Skin Syndrome 6 is FLG2 (Filaggrin Family Member 2). Affiliated tissues include skin, and related phenotypes are parakeratosis and pruritus

OMIM : 58 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)

Related Diseases for Peeling Skin Syndrome 6

Symptoms & Phenotypes for Peeling Skin Syndrome 6

Human phenotypes related to Peeling Skin Syndrome 6:

33
# Description HPO Frequency HPO Source Accession
1 parakeratosis 33 HP:0001036
2 pruritus 33 HP:0000989
3 orthokeratosis 33 HP:0040162

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin Histology:
parakeratosis
thin epidermis
orthokeratosis
subcorneal separation

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:
pruritus
generalized dryness
diffuse fine scales
bullae (primarily on trunk and flexural surface of arms)
painless peeling of skin
more

Clinical features from OMIM:

618084

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

Anatomical Context for Peeling Skin Syndrome 6

MalaCards organs/tissues related to Peeling Skin Syndrome 6:

42
Skin

Publications for Peeling Skin Syndrome 6

Variations for Peeling Skin Syndrome 6

ClinVar genetic disease variations for Peeling Skin Syndrome 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FLG2 NM_001014342.2(FLG2): c.632C> G (p.Ser211Ter) single nucleotide variant Pathogenic rs1050823116 GRCh37 Chromosome 1, 152329630: 152329630
2 FLG2 NM_001014342.2(FLG2): c.632C> G (p.Ser211Ter) single nucleotide variant Pathogenic rs1050823116 GRCh38 Chromosome 1, 152357154: 152357154
3 FLG2 NM_001014342.2(FLG2): c.1065T> A (p.Tyr355Ter) single nucleotide variant Pathogenic rs1553219199 GRCh37 Chromosome 1, 152329197: 152329197
4 FLG2 NM_001014342.2(FLG2): c.1065T> A (p.Tyr355Ter) single nucleotide variant Pathogenic rs1553219199 GRCh38 Chromosome 1, 152356721: 152356721

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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45 MeSH
46 MESH via Orphanet
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50 NCI
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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