PSS6
MCID: PLN028
MIFTS: 17

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 6
Pss6 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
skin lesions improve with age


Classifications:



Summaries for Peeling Skin Syndrome 6

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)

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

Related Diseases for Peeling Skin Syndrome 6

Symptoms & Phenotypes for Peeling Skin Syndrome 6

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Peeling Skin Syndrome 6:

32
# Description HPO Frequency HPO Source Accession
1 parakeratosis 32 HP:0001036
2 pruritus 32 HP:0000989
3 orthokeratosis 32 HP:0040162

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:

41
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 GRCh37 Chromosome 1, 152329197: 152329197
4 FLG2 NM_001014342.2(FLG2): c.1065T> A (p.Tyr355Ter) single nucleotide variant Pathogenic 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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