MCID: PLN017
MIFTS: 38

Peeling Skin Syndrome 1

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Peeling Skin Syndrome 1

MalaCards integrated aliases for Peeling Skin Syndrome 1:

Name: Peeling Skin Syndrome 1 54 71 69
Peeling Skin Syndrome Type B 56 71
Skin Peeling Familial Continuous Generalized 71
Generalized Peeling Skin Syndrome Type B 56
Inflammatory Peeling Skin Syndrome 56
Keratolysis Exfoliativa Congenita 71
Generalized Deciduous Skin Type B 56
Peeling Skin Syndrome 69
Deciduous Skin 71
Pss Type B 56
Pss1 71

Characteristics:

Orphanet epidemiological data:

56
peeling skin syndrome type b
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
acral form of skin peeling limited to hands and feet
two subtypes noninflammatory type a and inflammatory type b
see also peeling skin syndrome, acral type


HPO:

32
peeling skin syndrome 1:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare skin diseases


Summaries for Peeling Skin Syndrome 1

OMIM : 54
Peeling skin syndrome is a rare genodermatosis with variable age of onset from birth to adulthood. Clinically, it is characterized by a pruritic or nonpruritic spontaneous superficial peeling of the skin, which sometimes is accompanied by erythema or vesiculation. The skin involvement is usually general, but in some patients the scalp, face, palms, and soles may be unaffected. Seasonal changes have been reported. The histologic picture is characterized by separation of the epidermis between the statum corneum and the stratum granulosum (summary by Hacham-Zadeh and Holubar, 1985). Generalized PSS has been subclassified into a noninflammatory type, designated type A, and an inflammatory type, designated type B (Traupe, 1989; Judge et al., 2004). Type B, in which generalized peeling skin is associated with pruritus and atopy, is characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly thereafter. Several patients have been reported with high IgE levels (summary by Oji et al., 2010). Type A, a continuous nonerythematous exfoliation, is usually congenital or appears during childhood (summary by Mallet et al., 2013). (270300)

MalaCards based summary : Peeling Skin Syndrome 1, also known as peeling skin syndrome type b, is related to generalized peeling skin syndrome and peeling skin syndrome 3, and has symptoms including short stature, brittle hair and asthma. An important gene associated with Peeling Skin Syndrome 1 is CDSN (Corneodesmosin), and among its related pathways/superpathways are Developmental Biology and Keratinization. The drugs Dopamine and Risperidone have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and brain.

UniProtKB/Swiss-Prot : 71 Peeling skin syndrome 1: 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.

Related Diseases for Peeling Skin Syndrome 1

Diseases in the Peeling Skin Syndrome family:

Peeling Skin Syndrome 4 Peeling Skin Syndrome 1
Peeling Skin Syndrome 2 Peeling Skin Syndrome 5
Peeling Skin Syndrome 3

Diseases related to Peeling Skin Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 generalized peeling skin syndrome 11.1
2 peeling skin syndrome 3 11.1
3 peeling skin syndrome 11.0
4 combined oxidative phosphorylation deficiency 9.5 CDSN TGM5
5 hemolytic uremic syndrome, atypical 4 9.2 CDSN TGM5

Graphical network of the top 20 diseases related to Peeling Skin Syndrome 1:



Diseases related to Peeling Skin Syndrome 1

Symptoms & Phenotypes for Peeling Skin Syndrome 1

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Skin Nails & Hair- Skin:
superficial generalized lifelong skin peeling (sparing palms and soles)
generalized erythema (inflammatory type b)
pruritus (inflammatory type b)
vesicular lesions (inflammatory type b)

Skin Nails & Hair- Nails:
onycholysis, distal

Immunology:
elevated levels of serum ige

Respiratory- Airways:
asthma

Skin Nails & Hair- Skin Histology:
cleavage at junction of stratum corneum and stratum granulosum

Skin Nails & Hair- Hair:
fragile hair

Laboratory- Abnormalities:
low plasma tryptophan (inflammatory type b)


Clinical features from OMIM:

270300

Human phenotypes related to Peeling Skin Syndrome 1:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 brittle hair 32 HP:0002299
3 asthma 32 HP:0002099
4 pruritus 32 HP:0000989
5 onycholysis 32 HP:0001806
6 erythema 32 HP:0010783
7 scaling skin 32 HP:0040189
8 abnormality of metabolism/homeostasis 32 HP:0001939
9 increased ige level 32 HP:0003212

Drugs & Therapeutics for Peeling Skin Syndrome 1

Drugs for Peeling Skin Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 752)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
2
Risperidone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 106266-06-2 5073
3
Zolpidem Approved Phase 4 82626-48-0 5732
4 Zotepine Approved Phase 4 26615-21-4
5
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 60142-96-3 3446
6
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
7
Timolol Approved Phase 4 26839-75-8 33624 5478
8
Haloperidol Approved Phase 4,Phase 3,Phase 2,Phase 1 52-86-8 3559
9
Histamine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 75614-87-8, 51-45-6 774
10
Citalopram Approved Phase 4,Phase 3 59729-33-8 2771
11
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Early Phase 1 50-78-2 2244
12
Epinephrine Approved, Vet_approved Phase 4,Phase 1,Phase 2 51-43-4 5816
13 Racepinephrine Approved Phase 4,Phase 1,Phase 2
14
Ephedrine Approved Phase 4,Phase 3,Phase 2 299-42-3 9294
15
Pseudoephedrine Approved Phase 4,Phase 3,Phase 2 90-82-4 7028
16
Aripiprazole Approved, Investigational Phase 4,Phase 3,Phase 2 129722-12-9 60795
17
Clonidine Approved Phase 4,Phase 3,Phase 2,Phase 1 4205-90-7 2803
18
Methylphenidate Approved, Investigational Phase 4,Phase 2 113-45-1 4158
19
Interferon beta-1b Approved Phase 4,Phase 2,Phase 3 145155-23-3
20
Memantine Approved, Investigational Phase 4 19982-08-2 4054
21
Acetaminophen Approved Phase 4,Phase 3,Phase 2 103-90-2 1983
22
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
23
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 83-43-2 6741
24
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-24-8 5755
25
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3,Phase 2,Phase 1 148553-50-8 5486971
26
Guaifenesin Approved, Vet_approved Phase 4,Phase 2,Phase 1 93-14-1 3516
27
Loperamide Approved Phase 4,Phase 2,Phase 3 53179-11-6 3955
28
Methadone Approved Phase 4,Phase 3,Phase 2,Phase 1 76-99-3 4095
29
Morphine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 57-27-2 5288826
30
Opium Approved, Illicit Phase 4 8008-60-4
31
Phenobarbital Approved Phase 4 50-06-6 4763
32
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
33
Riluzole Approved, Investigational Phase 4,Phase 3 1744-22-5 5070
34
Norepinephrine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-41-2 439260
35
Olanzapine Approved, Investigational Phase 4,Phase 3,Phase 2 132539-06-1 4585
36
Paroxetine Approved, Investigational Phase 4,Phase 1,Phase 2 61869-08-7 43815
37
Cinnarizine Approved Phase 4 298-57-7 2761 1547484
38
Diazepam Approved, Illicit, Vet_approved Phase 4 439-14-5 3016
39
Methamphetamine Approved, Illicit Phase 4 537-46-2 10836
40
Menthol Approved Phase 4,Phase 3 2216-51-5 16666
41
Milnacipran Approved Phase 4,Phase 3 92623-85-3 65833
42
Asenapine Approved Phase 4,Phase 3 85650-56-2, 65576-45-6 3001386
43
Pramipexole Approved, Investigational Phase 4,Phase 3,Phase 2 104632-26-0 59868 119570
44
Ropinirole Approved, Investigational Phase 4,Phase 3,Phase 2 91374-20-8, 91374-21-9 5095 497540
45
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 5460373 44475014
46
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2 50-02-2 5743
47
Tobramycin Approved, Investigational Phase 4 32986-56-4 5496 36294
48
Interferon beta-1a Approved, Investigational Phase 4,Phase 3 145258-61-3 6438354
49
Betamethasone Approved, Vet_approved Phase 4,Phase 3 378-44-9 9782
50
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741 24759

Interventional clinical trials:

(show top 50) (show all 1184)

id Name Status NCT ID Phase Drugs
1 Pain Relief In Irritable Bowel Syndrome Unknown status NCT02573844 Phase 4 Proklama
2 Saccharomyces Boulardii in Diarrhea Dominant Irritable Bowel Syndrome Unknown status NCT00543478 Phase 4 Saccharomyces boulardii;Methyl cellulose powder (low viscosity)
3 Risperidone and Zotepine in the Treatment of Delirium Unknown status NCT00622011 Phase 4 Risperidone and Zolpidem for delirium
4 A Clinical Trial of Danhong Injection in Treating Acute Ischemic Stroke Unknown status NCT02152280 Phase 4 Danhong Injection;Normal Saline
5 Clinical Study to Evaluate the Efficacy of Anakinra in Patients With Rheumatoid Arthritis and Diabetes Unknown status NCT02236481 Phase 4 Anakinra;TNF alpha inhibitors
6 Effects of Gabapentin Enacarbil on Arousals, Heart Rate, Blood Pressure and PLMs in Restless Legs Syndrome Unknown status NCT02424695 Phase 4 Gabapentin Enacarbil (GEn);Placebo
7 Treatment of Neonatal Abstinence Syndrome Completed NCT01723722 Phase 4 Methadone;Diluted Deodorized Tincture of Opium
8 24-Hour Intraocular Pressure Control With Bimatoprost/Timolol Versus Latanoprost as First Choice Completed NCT01448837 Phase 4 Bimatoprost/Timolol, 24-hour intraocular pressure monitoring;Latanoprost, 24-hour intraocular pressure monitoring
9 A Study of Quetiapine Fumarate Sustained Release in Major Depression With Comorbid Fibromyalgia Syndrome Completed NCT00675896 Phase 4 Quetiapine Fumarate Sustained Release;Placebo
10 Developing New Treatments for Tourette Syndrome: Therapeutic Trials With Modulators of Glutamatergic Neurotransmission Completed NCT01018056 Phase 4 D-serine;Riluzole;Placebo
11 Open Trial of Duloxetine in Outpatients With Irritable Bowel Syndrome Symptoms and Co-Morbid Major Depression Completed NCT01754493 Phase 4 Duloxetine
12 Low Level Laser Therapy Associated With Exercise in Subacromial Impingement Syndrome Completed NCT02725749 Phase 4
13 Efficacy Study of Early Onset of Antipsychotic Drug Action in Schizophrenia Completed NCT00337662 Phase 4 olanzapine;risperidone;risperidone
14 A Study of Paliperidone Palmitate in Patients With Schizophrenia Previously Unsuccessfully Treated by Oral Antipsychotics Completed NCT01685931 Phase 4 Paliperidone Palmitate
15 Short and Long Term Exposure to Unique, Time-Varying Pulsed Electro-Magnetic Fields in Refractory Carpal Tunnel Syndrome Completed NCT00277563 Phase 4
16 Paroxetine-CR (Paxil-CR) in the Treatment of Patients With Fibromyalgia Syndrome Completed NCT00610610 Phase 4 Paroxetine CR;Placebo
17 Therapeutic Effect of Quetiapine on Methamphetamine-Induced Psychosis Completed NCT01939093 Phase 4 Diazepam;Stugeron
18 Radio-frequency (RF)-Based Plasma Micro-tenotomy for the Treatment of Shoulder Impingement Syndrome Completed NCT01554670 Phase 4
19 Effects of Neupro on Cardiovascular Observations in Patients With Restless Legs Syndrome Completed NCT01455012 Phase 4 Rotigotine;Placebo
20 Escitalopram in Depressive Patients With Acute Coronary Artery Syndrome Completed NCT00419471 Phase 4 Escitalopram;Placebo
21 Pregnenolone Augmentation in the Treatment of Patients With Recent-Onset Schizophrenia Completed NCT00847600 Phase 4
22 Platelet Hyperreactivity to Aspirin and Stroke Completed NCT00766896 Phase 4 Aspirin (platelet sensitive versus platelet hyperreactivity)
23 Length of Post Operative Dressing After Carpal Tunnel Release Completed NCT01310218 Phase 4
24 Conventional Radiofrequency, Pulse Radiofrequency, and TENS for Lumbar Facet Joint Pain Completed NCT02942147 Phase 4
25 An Open-Label Trial of Duloxetine for the Treatment of Irritable Bowel Syndrome Completed NCT00401258 Phase 4 duloxetine
26 Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism Completed NCT01337700 Phase 4 Milnacipran;Placebo
27 Treating Acutely Agitated Patients With Asenapine Sublingual Tablets Completed NCT01400113 Phase 4 Asenapine;Placebo
28 Switching From Oral Dopamine Agonists to Rotigotine Completed NCT01976871 Phase 4 Rotigotine
29 Effectiveness of Vitamin Supplementation in Treating People With Residual Symptoms of Schizophrenia Completed NCT00611806 Phase 4
30 Bromfenac to Reduce Inflammation in Patients With Pseudoexfoliation Syndrome After Cataract Surgery Completed NCT02137161 Phase 4 Dexamethasone+Tobramycin eye drop;Bromfenac eye drop
31 Effectiveness of Rebif® in Clinically Isolated Syndrome and Relapsing Multiple Sclerosis Using RebiSmart™ (PROCEED) Completed NCT02254304 Phase 4 Rebif®
32 Study of the Efficacy and Safety of Quetiapine Fumarate Extended Release (Seroquel XR) Completed NCT00779506 Phase 4 Quetiapine Fumarate XR
33 Efficacy and Safety of Lisdexamfetamine Dimesylate in Adults With Chronic Fatigue Syndrome Completed NCT01071044 Phase 4 Lisdexamfetamine Dimesylate;Placebo "30, 50 or 70 mg"
34 A Double Blind Study Comparing Hyaluronic Acid, Corticosteroid and Placebo During Arthrocentesis for Temporomandibular Joint (TMJ) Dysfunction Completed NCT01524913 Phase 4 Hyaluronic acid;Corticosteroid;Lactated Ringers
35 Long-term Study Of Ropinirole In Restless Legs Syndrome Completed NCT00329602 Phase 4 Placebo;Ropinirole
36 A Study of the Efficacy and Safety of Intramuscular Ziprasidone Followed by Oral Ziprasidone for the Treatment of Psychosis Completed NCT00644800 Phase 4 Ziprasidone
37 Comparison of Antipsychotics for Metabolic Problems in Schizophrenia or Schizoaffective Disorder Completed NCT00423878 Phase 4 Risperidone;Olanzapine;Quetiapine;Aripiprazole
38 Efficacy and Safety of SEROQUEL Extended Release (XR) in Acute Schizophrenia Completed NCT00954122 Phase 4 Quetiapine XR (Seroquel XR)
39 Guanfacine in Children With Tic Disorders Completed NCT01547000 Phase 4 placebo;extended-release guanfacine (Intuniv)
40 Effectiveness of Pimozide in Augmenting the Effects of Clozapine in the Treatment of Schizophrenia Completed NCT00158223 Phase 4 Pimozide;Placebo
41 Mesalazine for the Treatment of Diarrhoea-predominant Irritable Bowel Syndrome (IBS-D) Completed NCT01316718 Phase 4 Mesalazine;Placebo
42 Olanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia Completed NCT00103571 Phase 4 Olanzapine;Aripiprazole
43 Paliperidone Extended-Release (ER) Versus Risperidone for Neurocognitive Function in Patients With Schizophrenia Completed NCT00827840 Phase 4 Paliperidone ER;Risperidone
44 NAS Treatment - Opiate Versus Non-Opiate Completed NCT01734551 Phase 4 Morphine;Clonidine
45 Lofexidine for Inpatient Opiate Detox in Singapore Completed NCT01675648 Phase 4 Lofexidine;Diazepam;Placebo for Lofexidine;Placebo for Diazepam
46 A Study to Evaluate the Effectiveness and Safety of Paliperidone Palmitate in Subjects With Acute Schizophrenia Completed NCT01527305 Phase 4 Paliperidone palmitate
47 NF1-Attention: Study of Children With Neurofibromatosis Type 1 Treated by Methylphenidate Completed NCT00169611 Phase 4 methylphenidate
48 Restless Legs Syndrome With Iron Deficiency or Anaemia in the 3rd Trimester of Pregnancy Completed NCT01245777 Phase 4 ferric carboxymaltose
49 A Study of Rebif® in Subjects With Relapsing Multiple Sclerosis Completed NCT02064816 Phase 4 Rebif®;Rebif®
50 SWITCH:Restless Legs Patients Switched to Ropinirole From Pramipexole Completed NCT00344994 Phase 4 pramipexole

Search NIH Clinical Center for Peeling Skin Syndrome 1

Genetic Tests for Peeling Skin Syndrome 1

Anatomical Context for Peeling Skin Syndrome 1

MalaCards organs/tissues related to Peeling Skin Syndrome 1:

39
Skin, Eye, Brain, Spinal Cord, Testes, Bone, Heart

Publications for Peeling Skin Syndrome 1

Variations for Peeling Skin Syndrome 1

ClinVar genetic disease variations for Peeling Skin Syndrome 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TGM5 NM_201631.3(TGM5): c.337G> T (p.Gly113Cys) single nucleotide variant Pathogenic rs112292549 GRCh37 Chromosome 15, 43552349: 43552349
2 CDSN NM_001264.4(CDSN): c.175A> T (p.Lys59Ter) single nucleotide variant Pathogenic rs387906841 GRCh37 Chromosome 6, 31085217: 31085217
3 CDSN NM_001264.4(CDSN): c.746delG (p.Gly249Valfs) deletion Pathogenic rs672601343 GRCh37 Chromosome 6, 31084646: 31084646
4 CDSN NM_001264.4(CDSN): c.164_167dupGCCT (p.Thr57Profs) duplication Pathogenic rs606231274 GRCh38 Chromosome 6, 31117448: 31117451
5 CDSN NM_001264.4(CDSN): c.424G> T (p.Gly142Ter) single nucleotide variant Pathogenic rs606231275 GRCh38 Chromosome 6, 31117191: 31117191

Expression for Peeling Skin Syndrome 1

Search GEO for disease gene expression data for Peeling Skin Syndrome 1.

Pathways for Peeling Skin Syndrome 1

Pathways related to Peeling Skin Syndrome 1 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.17 CDSN TGM5
2
Show member pathways
11.08 CDSN TGM5

GO Terms for Peeling Skin Syndrome 1

Biological processes related to Peeling Skin Syndrome 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cornification GO:0070268 8.96 CDSN TGM5
2 epidermis development GO:0008544 8.62 CDSN TGM5

Sources for Peeling Skin Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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