Peeling Skin Syndrome 4 (PSS4)

Categories: Genetic diseases, Rare diseases, Skin 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



autosomal recessive


peeling skin syndrome 4:
Inheritance autosomal recessive inheritance


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 autosomal recessive epidermolytic ichthyosis. An important gene associated with Peeling Skin Syndrome 4 is CSTA (Cystatin A). The drugs Echinacea and Caffeic acid have been mentioned in the context of this disorder. Affiliated tissues include skin and prostate, and related phenotypes are ichthyosis and palmoplantar keratoderma

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 6
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 11.4
2 autosomal recessive epidermolytic ichthyosis 11.1
3 prostate cancer 10.3

Symptoms & Phenotypes for Peeling Skin Syndrome 4

Symptoms via clinical synopsis from OMIM:

Skin Nails Hair Skin:
palmoplantar keratoderma
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)
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
Skin Nails Hair Nails:
onychodystrophy, mild, of the toenails (rare)

Skin Nails Hair Hair:

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)

Clinical features from OMIM:


Human phenotypes related to Peeling Skin Syndrome 4:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 ichthyosis 32 HP:0008064
2 palmoplantar keratoderma 32 HP:0000982
3 nail dystrophy 32 occasional (7.5%) HP:0008404
4 scaling skin 32 HP:0040189
5 lichenification 32 HP:0100725
6 epidermal acanthosis 32 occasional (7.5%) HP:0025092
7 orthokeratosis 32 HP:0040162

Drugs & Therapeutics for Peeling Skin Syndrome 4

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

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Echinacea Approved, Experimental Phase 3
Caffeic acid Experimental, Investigational Phase 3 331-39-5 1549111
Nicotine Approved Phase 2 54-11-5 942 89594
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
Bupropion Approved Phase 2 34841-39-9, 34911-55-2 444
Varenicline Approved, Investigational Phase 2 249296-44-4 5310966
Dextromethorphan Approved Phase 2 125-71-3 5360696 5362449
Guaifenesin Approved, Investigational, Vet_approved Phase 2 93-14-1 3516
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 5280795 6221
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
12 Neurotransmitter Agents Phase 2
13 Cholinergic Agents Phase 2
14 Cytochrome P-450 Enzyme Inhibitors Phase 2
15 Antidepressive Agents, Second-Generation Phase 2
16 Peripheral Nervous System Agents Phase 2
17 Cytochrome P-450 CYP2D6 Inhibitors Phase 2
18 Central Nervous System Stimulants Phase 2
19 Dopamine Uptake Inhibitors Phase 2
20 Antidepressive Agents Phase 2
21 Nicotinic Agonists Phase 2
22 Dopamine Agents Phase 2
23 Psychotropic Drugs Phase 2
24 Autonomic Agents Phase 2
25 Neurotransmitter Uptake Inhibitors Phase 2
26 Antitussive Agents Phase 2
27 Respiratory System Agents Phase 2
28 Chlorpheniramine, phenylpropanolamine drug combination Phase 2
29 Excitatory Amino Acid Antagonists Phase 2
30 Excitatory Amino Acids Phase 2
31 Ergocalciferols Phase 2
32 Trace Elements Phase 2
33 insulin Phase 2
34 Vitamin D2 Phase 2
35 Micronutrients Phase 2
36 Bone Density Conservation Agents Phase 2
37 Insulin, Globin Zinc Phase 2
38 Calciferol Phase 2
39 Vitamins Phase 2
40 Vaccines Not Applicable

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 Echinacea Versus Placebo Effect in Common Cold (Physician Echinacea Placebo) Completed NCT00065715 Phase 3
2 Adaptive Pharmacotherapy for Smoking Cessation Recruiting NCT02501265 Phase 2 Varenicline Adaptive Protocol;Nicotine Adaptive Protocol
3 AXS-05 Phase II Trial on Smoking Behavior Recruiting NCT03471767 Phase 2 AXS-05;Bupropion SR
4 Metabolic Syndrome and Insulin Resistance at Allina Completed NCT01545830 Phase 2
5 CBT Through Internet and Smartphones for Adults With ADHD - a Randomized Controlled Trial Unknown status NCT02041884 Not Applicable
6 Internet-delivered Interventions for Stress, Anxiety and Depression in the Workplace Withdrawn NCT03271645 Not Applicable
7 Registry for Integrative Medicine Interventions Effectiveness Recruiting NCT01754038
8 Dysphonia, Distress, and Perceived Control: Technology Based Assessment and Intervention Recruiting NCT03576365 Not Applicable
9 Comparison of Mindfulness Meditation Tools For College Students Active, not recruiting NCT03402009 Not Applicable
10 Online Course Teachning Adults With ADHD How to Use a Smartphone Completed NCT01663610 Not Applicable
11 Intervention to Reduce Diaper Need and Increase Use of Pediatric Preventive Care Not yet recruiting NCT03490045 Not Applicable
12 Effectiveness of a Problem-solving Intervention for Common Adolescent Mental Health Problems in India Not yet recruiting NCT03630471 Not Applicable
13 The Effects of Manipulating Expectations in an Online Gratitude Intervention Not yet recruiting NCT03784001 Not Applicable
14 Preventing Early Childhood Obesity, Part 2: Family Spirit Nurture, Prenatal - 18 Months Recruiting NCT03334266 Not Applicable
15 Internet-delivered ACT for Treating the Psychological Effects of Hearing Loss Completed NCT02877329 Not Applicable
16 China PEACE-Prospective PCI Study Completed NCT01624922
17 China PEACE-Prospective AMI Study Completed NCT01624909
18 China PEACE 5p-HF Study Recruiting NCT02878811
19 Prospective Evaluation of Prognosis of Pci Patients Using Network Data in SHengjing Hospital Enrolling by invitation NCT02667548
20 Psychological Treatment for Adults With Attention-Deficit/Hyperactivity Disorder (ADHD) Completed NCT01659164 Not Applicable
21 Implementation of the Internet-based Aftercare Program 'GSA-Online Plus' Completed NCT03019718 Not Applicable
22 Internet-delivered Cognitive Behavior Therapy for Adolescents With Functional Gastrointestinal Disorders: a Pilot Study Completed NCT02033161 Not Applicable
23 Physical Activity Wearables in the Police Force: The PAW-Force Trial Completed NCT03169179 Not Applicable
24 Family Procedural Presence Recruiting NCT03808350 Not Applicable
25 Feasability of Collaborative Care in the Secondary Prevention of Coronary Heart Disease Completed NCT02389153 Not Applicable
26 Positive Psychology for Acute Coronary Syndrome Patients Completed NCT03122184 Not Applicable
27 The PrEliMS Feasibility Trial Recruiting NCT03735056 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:

Skin, Prostate

Publications for Peeling Skin Syndrome 4

Variations for Peeling Skin Syndrome 4

ClinVar genetic disease variations for Peeling Skin Syndrome 4:

# 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

9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
70 SNOMED-CT via Orphanet
72 Tocris
74 UMLS via Orphanet
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