PSS5
MCID: PLN025
MIFTS: 18

Peeling Skin Syndrome 5 (PSS5)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Peeling Skin Syndrome 5

MalaCards integrated aliases for Peeling Skin Syndrome 5:

Name: Peeling Skin Syndrome 5 57 72 29 6
Pss5 57 72

Characteristics:

OMIM®:

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

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


HPO:

31
peeling skin syndrome 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 617115
OMIM Phenotypic Series 57 PS270300
MeSH 44 D003873

Summaries for Peeling Skin Syndrome 5

UniProtKB/Swiss-Prot : 72 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) (Updated 05-Apr-2021)

Related Diseases for Peeling Skin Syndrome 5

Symptoms & Phenotypes for Peeling Skin Syndrome 5

Human phenotypes related to Peeling Skin Syndrome 5:

31
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 31 HP:0000962
2 epidermal acanthosis 31 HP:0025092

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin Histology:
hyperkeratosis
acanthosis
widening of intercellular spaces
disadhesion of keratinocytes in basal and suprabasal layers of epidermis

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)

Clinical features from OMIM®:

617115 (Updated 05-Apr-2021)

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:

40
Skin

Publications for Peeling Skin Syndrome 5

Articles related to Peeling Skin Syndrome 5:

# Title Authors PMID Year
1
Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions. 57 6
27476651 2016

Variations for Peeling Skin Syndrome 5

ClinVar genetic disease variations for Peeling Skin Syndrome 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SERPINB8 NM_002640.4(SERPINB8):c.2T>C (p.Met1Thr) SNV Pathogenic 254199 rs374612640 GRCh37: 18:61645544-61645544
GRCh38: 18:63978310-63978310
2 SERPINB8 NM_002640.4(SERPINB8):c.947del (p.Lys316fs) Deletion Pathogenic 254198 rs762923677 GRCh37: 18:61654333-61654333
GRCh38: 18:63987099-63987099
3 SERPINB8 NM_002640.4(SERPINB8):c.850C>T (p.Arg284Ter) SNV Pathogenic/Likely pathogenic 254200 rs144666367 GRCh37: 18:61654237-61654237
GRCh38: 18:63987003-63987003

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 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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