MCID: PLN025
MIFTS: 17

Peeling Skin Syndrome 5

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Peeling Skin Syndrome 5

MalaCards integrated aliases for Peeling Skin Syndrome 5:

Name: Peeling Skin Syndrome 5 57 75 29 6
Pss5 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms between 3 to 6 months of age
symptoms exacerbated by heat, humidity, or friction


HPO:

32
peeling skin syndrome 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 617115
MeSH 44 D003873

Summaries for Peeling Skin Syndrome 5

UniProtKB/Swiss-Prot : 75 Peeling skin syndrome 5: 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. PSS5 patients manifest hyperkeratosis and superficial peeling of areas of the palmar and dorsal faces of hands and feet. Additional variable features include erythema, superficial scaling of forearms and legs and diffuse yellowish hyperkeratotic palmoplantar plaques. PSS5 inheritance is autosomal recessive.

MalaCards based summary : Peeling Skin Syndrome 5, is also known as pss5. An important gene associated with Peeling Skin Syndrome 5 is SERPINB8 (Serpin Family B Member 8). Affiliated tissues include skin, and related phenotypes are hyperkeratosis and epidermal acanthosis

OMIM : 57 Peeling skin syndrome-5 (PSS5) is characterized by superficial peeling of the dorsal and palmar skin of the hands and feet; the skin of the forearms and legs may also be involved. Some patients exhibit diffuse yellowish hyperkeratotic palmoplantar plaques (Pigors et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 (270300). (617115)

Related Diseases for Peeling Skin Syndrome 5

Symptoms & Phenotypes for Peeling Skin Syndrome 5

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
superficial peeling of small areas of dorsal and palmar surfaces of the hands and feet
underlying erythema (in some patients)
superficial scaling of forearms (in some patients)
superficial scaling of legs (in some patients)
diffuse yellowish hyperkeratotic palmoplantar plaques (in some patients)

Skin Nails Hair Skin Histology:
acanthosis
hyperkeratosis
disadhesion of keratinocytes in basal and suprabasal layers of epidermis
widening of intercellular spaces


Clinical features from OMIM:

617115

Human phenotypes related to Peeling Skin Syndrome 5:

32
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 32 HP:0000962
2 epidermal acanthosis 32 HP:0025092

Drugs & Therapeutics for Peeling Skin Syndrome 5

Search Clinical Trials , NIH Clinical Center for Peeling Skin Syndrome 5

Genetic Tests for Peeling Skin Syndrome 5

Genetic tests related to Peeling Skin Syndrome 5:

# Genetic test Affiliating Genes
1 Peeling Skin Syndrome 5 29 SERPINB8

Anatomical Context for Peeling Skin Syndrome 5

MalaCards organs/tissues related to Peeling Skin Syndrome 5:

41
Skin

Publications for Peeling Skin Syndrome 5

Variations for Peeling Skin Syndrome 5

ClinVar genetic disease variations for Peeling Skin Syndrome 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SERPINB8 NM_198833.1(SERPINB8): c.947delA (p.Lys316Serfs) deletion Pathogenic rs886037923 GRCh37 Chromosome 18, 61654334: 61654334
2 SERPINB8 NM_198833.1(SERPINB8): c.947delA (p.Lys316Serfs) deletion Pathogenic rs886037923 GRCh38 Chromosome 18, 63987100: 63987100
3 SERPINB8 NM_198833.1(SERPINB8): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs374612640 GRCh38 Chromosome 18, 63978310: 63978310
4 SERPINB8 NM_198833.1(SERPINB8): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs374612640 GRCh37 Chromosome 18, 61645544: 61645544
5 SERPINB8 NM_198833.1(SERPINB8): c.850C> T (p.Arg284Ter) single nucleotide variant Pathogenic rs144666367 GRCh38 Chromosome 18, 63987003: 63987003
6 SERPINB8 NM_198833.1(SERPINB8): c.850C> T (p.Arg284Ter) single nucleotide variant Pathogenic rs144666367 GRCh37 Chromosome 18, 61654237: 61654237

Expression for Peeling Skin Syndrome 5

Search GEO for disease gene expression data for Peeling Skin Syndrome 5.

Pathways for Peeling Skin Syndrome 5

GO Terms for Peeling Skin Syndrome 5

Sources for Peeling Skin Syndrome 5

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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