MCID: PLN024
MIFTS: 30

Peeling Skin Syndrome 4

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Peeling Skin Syndrome 4

MalaCards integrated aliases for Peeling Skin Syndrome 4:

Name: Peeling Skin Syndrome 4 57 75
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-Like 29 13 6 40 73
Pss4 57 75
Arei 57 75
Ichthyosis, Exfoliative, Autosomal Recessive, Ichthyosis Bullosa of Siemens-Like 75
Exfoliative Ichthyosis Autosomal Recessive Ibs-Like 75
Ichthyosis, Exfoliative, Autosomal Recessive; Arei 57
Ichthyosis, Exfoliative, Autosomal Recessive 57
Exfoliative Ichthyosis, Autosomal Recessive 75
Ichthyosis Bullosa of Siemens-Like 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
peeling skin syndrome 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peeling Skin Syndrome 4

UniProtKB/Swiss-Prot : 75 Peeling skin syndrome 4: A genodermatosis characterized by congenital exfoliative ichthyosis, sharing some features with ichthyosis bullosa of Siemens and annular epidermolytic ichthyosis. PSS4 presents shortly after birth as dry, scaly skin over most of the body with coarse peeling of non- erythematous skin on the palms and soles, which is exacerbated by excessive moisture and minor trauma. Electron microscopy analysis of skin biopsies, reveals mostly normal-appearing upper layers of the epidermis, but prominent intercellular edema of the basal and suprabasal cell layers with aggregates of tonofilaments in the basal keratinocytes.

MalaCards based summary : Peeling Skin Syndrome 4, also known as exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like, is related to exfoliative ichthyosis and prostate cancer. An important gene associated with Peeling Skin Syndrome 4 is CSTA (Cystatin A). The drugs Caffeic acid and Echinacea have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and bone, and related phenotypes are palmoplantar keratoderma and ichthyosis

Description from OMIM: 607936

Related Diseases for Peeling Skin Syndrome 4

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 Type C

Diseases related to Peeling Skin Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 exfoliative ichthyosis 11.2
2 prostate cancer 10.1
3 prostatitis 10.1

Symptoms & Phenotypes for Peeling Skin Syndrome 4

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
hyperkeratosis
palmoplantar keratoderma
lichenification
well-circumscribed peeling of the skin on the extremities and neck (easily elicited by moisture and minor trauma)
generalized dry skin with fine scaling and sparing of face (in some patients)
more
Skin Nails Hair Skin Histology:
orthokeratosis, nonspecific basket-weave
acanthosis (in some patients)
multiple layers of loosely packed, less densely stained, swollen cells in the stratum corneum (in some patients)
cleavage within stratum corneum and immediate subcorneal layer (in some patients)
thickened granular zone
more
Skin Nails Hair Nails:
onychodystrophy, mild, of the toenails (rare)

Skin Nails Hair Hair:
normal

Skin Nails Hair Skin Electron Microscopy:
reduced cornified envelope thickness
separation between corneocytes (in some patients)
cytolysis and fragmentation of keratin filaments in corneocytes (in some patients)
disturbed lamellar lipid organization in the stratum corneum (in some patients)
swollen cells with loosely assembled filament bundles in the stratum lucidum (in some patients)
more

Clinical features from OMIM:

607936

Human phenotypes related to Peeling Skin Syndrome 4:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 32 HP:0000982
2 ichthyosis 32 HP:0008064
3 nail dystrophy 32 occasional (7.5%) HP:0008404
4 epidermal acanthosis 32 occasional (7.5%) HP:0025092
5 scaling skin 32 HP:0040189
6 lichenification 32 HP:0100725

Drugs & Therapeutics for Peeling Skin Syndrome 4

Drugs for Peeling Skin Syndrome 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Caffeic acid Experimental, Investigational Phase 3 331-39-5 1549111
2 Echinacea Nutraceutical Phase 3
3
Bupropion Approved Phase 2 34841-39-9, 34911-55-2 444
4
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
5
Nicotine Approved Phase 2 54-11-5 942 89594
6
Varenicline Approved, Investigational Phase 2 249296-44-4 5310966
7
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
8
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
9
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 6221 5280795
10 Bone Density Conservation Agents Phase 2
11 Ergocalciferols Phase 2
12 insulin Phase 2
13 Insulin, Globin Zinc Phase 2
14 Micronutrients Phase 2
15 Trace Elements Phase 2
16 Vitamins Phase 2
17 Antidepressive Agents Phase 2
18 Antidepressive Agents, Second-Generation Phase 2
19 Autonomic Agents Phase 2
20 Central Nervous System Stimulants Phase 2
21 Cholinergic Agents Phase 2
22 Cytochrome P-450 CYP2D6 Inhibitors Phase 2
23 Cytochrome P-450 Enzyme Inhibitors Phase 2
24 Dopamine Agents Phase 2
25 Dopamine Uptake Inhibitors Phase 2
26 Neurotransmitter Agents Phase 2
27 Neurotransmitter Uptake Inhibitors Phase 2
28 Nicotinic Agonists Phase 2
29 Peripheral Nervous System Agents Phase 2
30 Psychotropic Drugs Phase 2
31 Calciferol Nutraceutical Phase 2
32 Vitamin D2 Nutraceutical Phase 2
33
Menthol Approved Not Applicable 2216-51-5 16666

Interventional clinical trials:

(show all 22)
# Name Status NCT ID Phase Drugs
1 Echinacea Versus Placebo Effect in Common Cold (Physician Echinacea Placebo) Completed NCT00065715 Phase 3
2 Metabolic Syndrome and Insulin Resistance at Allina Completed NCT01545830 Phase 2
3 Adaptive Pharmacotherapy for Smoking Cessation Recruiting NCT02501265 Phase 2 Varenicline Adaptive Protocol;Nicotine Adaptive Protocol
4 AXS-05 Phase II Trial on Smoking Behavior Recruiting NCT03471767 Phase 2 AXS-05;Bupropion SR
5 Online Course Teachning Adults With ADHD How to Use a Smartphone Completed NCT01663610 Not Applicable
6 Internet-delivered ACT for Treating the Psychological Effects of Hearing Loss Completed NCT02877329 Not Applicable
7 China PEACE-Prospective PCI Study Completed NCT01624922
8 China PEACE-Prospective AMI Study Completed NCT01624909
9 Psychological Treatment for Adults With Attention-Deficit/Hyperactivity Disorder (ADHD) Completed NCT01659164 Not Applicable
10 Implementation of the Internet-based Aftercare Program 'GSA-Online Plus' Completed NCT03019718 Not Applicable
11 Internet-delivered Cognitive Behavior Therapy for Adolescents With Functional Gastrointestinal Disorders: a Pilot Study Completed NCT02033161 Not Applicable
12 Physical Activity Wearables in the Police Force: The PAW-Force Trial Completed NCT03169179 Not Applicable
13 Registry for Integrative Medicine Interventions Effectiveness Recruiting NCT01754038
14 Dysphonia, Distress, and Perceived Control: Technology Based Assessment and Intervention Recruiting NCT03576365 Not Applicable
15 Preventing Early Childhood Obesity, Part 2: Family Spirit Nurture, Prenatal - 18 Months Recruiting NCT03334266 Not Applicable
16 China PEACE 5p-HF Study Recruiting NCT02878811
17 Positive Psychology for Acute Coronary Syndrome Patients Recruiting NCT03122184 Not Applicable
18 Comparison of Mindfulness Meditation Tools For College Students Active, not recruiting NCT03402009 Not Applicable
19 CBT Through Internet and Smartphones for Adults With ADHD - a Randomized Controlled Trial Active, not recruiting NCT02041884 Not Applicable
20 Feasability of Collaborative Care in the Secondary Prevention of Coronary Heart Disease Active, not recruiting NCT02389153 Not Applicable
21 Prospective Evaluation of Prognosis of Pci Patients Using Network Data in SHengjing Hospital Enrolling by invitation NCT02667548
22 Internet-delivered Interventions for Stress, Anxiety and Depression in the Workplace Not yet recruiting NCT03271645 Not Applicable

Search NIH Clinical Center for Peeling Skin Syndrome 4

Genetic Tests for Peeling Skin Syndrome 4

Genetic tests related to Peeling Skin Syndrome 4:

# Genetic test Affiliating Genes
1 Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-Like 29 CSTA

Anatomical Context for Peeling Skin Syndrome 4

MalaCards organs/tissues related to Peeling Skin Syndrome 4:

41
Skin, Heart, Bone

Publications for Peeling Skin Syndrome 4

Variations for Peeling Skin Syndrome 4

ClinVar genetic disease variations for Peeling Skin Syndrome 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CSTA NM_005213.3(CSTA): c.67-2A> T single nucleotide variant Pathogenic rs398122804 GRCh37 Chromosome 3, 122056392: 122056392
2 CSTA NM_005213.3(CSTA): c.67-2A> T single nucleotide variant Pathogenic rs398122804 GRCh38 Chromosome 3, 122337545: 122337545
3 CSTA NM_005213.3(CSTA): c.256C> T (p.Gln86Ter) single nucleotide variant Pathogenic rs387906689 GRCh37 Chromosome 3, 122060373: 122060373
4 CSTA NM_005213.3(CSTA): c.256C> T (p.Gln86Ter) single nucleotide variant Pathogenic rs387906689 GRCh38 Chromosome 3, 122341526: 122341526
5 CSTA NM_005213.3(CSTA): c.64A> T (p.Lys22Ter) single nucleotide variant Pathogenic rs747711488 GRCh37 Chromosome 3, 122044203: 122044203
6 CSTA NM_005213.3(CSTA): c.64A> T (p.Lys22Ter) single nucleotide variant Pathogenic rs747711488 GRCh38 Chromosome 3, 122325356: 122325356
7 CSTA NM_005213.3(CSTA): c.172C> T (p.Arg58Ter) single nucleotide variant Pathogenic rs149474339 GRCh37 Chromosome 3, 122060289: 122060289
8 CSTA NM_005213.3(CSTA): c.172C> T (p.Arg58Ter) single nucleotide variant Pathogenic rs149474339 GRCh38 Chromosome 3, 122341442: 122341442

Expression for Peeling Skin Syndrome 4

Search GEO for disease gene expression data for Peeling Skin Syndrome 4.

Pathways for Peeling Skin Syndrome 4

GO Terms for Peeling Skin Syndrome 4

Sources for Peeling Skin Syndrome 4

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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