PSS
MCID: PLN008
MIFTS: 45

Peeling Skin Syndrome (PSS) malady

Categories: Rare diseases, Genetic diseases, Skin diseases

Aliases & Classifications for Peeling Skin Syndrome

Aliases & Descriptions for Peeling Skin Syndrome:

Name: Peeling Skin Syndrome 12 50 24 13 14 69
Keratolysis Exfoliativa Congenita 50 24
Peeling Skin Syndrome 1 24 69
Skin Peeling Syndrome 50 29
Deciduous Skin 50 24
Skin Peeling, Familial Continuous Generalized 24
Familial Continuous Skin Peeling 50
Peeling Skin Syndrome, Type B 24
Exfoliation Syndrome 69
Pss1 24
Pss 24

Classifications:



External Ids:

Disease Ontology 12 DOID:0060283
ICD10 33 Q80.8

Summaries for Peeling Skin Syndrome

MalaCards based summary : Peeling Skin Syndrome, also known as keratolysis exfoliativa congenita, is related to peeling skin syndrome 2 and peeling skin syndrome 3, and has symptoms including dry skin, hyperhidrosis and ichthyosis. An important gene associated with Peeling Skin Syndrome is CDSN (Corneodesmosin), and among its related pathways/superpathways is Keratinization. The drugs Citalopram and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include skin.

Wikipedia : 71 Peeling skin syndrome (also known as \"Acral peeling skin syndrome,\" \"Continual peeling skin... more...

Related Diseases for Peeling Skin Syndrome

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



Diseases related to Peeling Skin Syndrome

Symptoms & Phenotypes for Peeling Skin Syndrome

Human phenotypes related to Peeling Skin Syndrome:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 dry skin 32 HP:0000958
2 hyperhidrosis 32 HP:0000975
3 ichthyosis 32 HP:0008064
4 aminoaciduria 32 HP:0003355
5 abnormal blistering of the skin 32 HP:0008066
6 multiple cafe-au-lait spots 32 HP:0007565
7 abnormality of hair texture 32 HP:0010719

Drugs & Therapeutics for Peeling Skin Syndrome

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

(show top 50) (show all 1025)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citalopram Approved Phase 4,Phase 3,Phase 2 59729-33-8 2771
2
Acetaminophen Approved Phase 4,Phase 3,Phase 2 103-90-2 1983
3
Clonidine Approved Phase 4,Phase 3,Phase 2,Phase 1 4205-90-7 2803
4
Amitriptyline Approved Phase 4,Phase 2,Phase 3,Phase 1 50-48-6 2160
5
Cyclobenzaprine Approved Phase 4,Phase 3 303-53-7 2895
6
Aripiprazole Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 129722-12-9 60795
7
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
8
Risperidone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 106266-06-2 5073
9
Zolpidem Approved Phase 4 82626-48-0 5732
10 Zotepine Approved Phase 4 26615-21-4
11
Methylphenidate Approved, Investigational Phase 4,Phase 3,Phase 2 113-45-1 4158
12
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 60142-96-3 3446
13
Clozapine Approved Phase 4,Phase 3,Phase 2,Phase 1 5786-21-0 2818
14
Etomidate Approved Phase 4 33125-97-2 36339 667484
15
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 1,Phase 2 2078-54-8 4943
16
Donepezil Approved Phase 4,Phase 3,Phase 2 120014-06-4 3152
17
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
18
Olanzapine Approved, Investigational Phase 4,Phase 3,Phase 2 132539-06-1 4585
19
Ziprasidone Approved Phase 4,Phase 3,Phase 2 146939-27-7 60854
20
Pramipexole Approved, Investigational Phase 4,Phase 3,Phase 2 104632-26-0 59868 119570
21
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 137-58-6 3676
22
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
23
Timolol Approved Phase 4,Phase 3 26839-75-8 33624 5478
24
Ropinirole Approved, Investigational Phase 4,Phase 3,Phase 2 91374-20-8, 91374-21-9 5095 497540
25
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Early Phase 1 50-78-2 2244
26
Menthol Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 2216-51-5 16666
27
Minocycline Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 10118-90-8 5281021
28
Ephedrine Approved Phase 4,Phase 3,Phase 2,Phase 1 299-42-3 9294
29
Pseudoephedrine Approved Phase 4,Phase 3,Phase 2,Phase 1 90-82-4 7028
30
Epinephrine Approved, Vet_approved Phase 4,Phase 1,Phase 2 51-43-4 5816
31
Sertraline Approved Phase 4,Phase 1,Phase 2 79617-96-2 68617
32
Haloperidol Approved Phase 4,Phase 3,Phase 2,Phase 1 52-86-8 3559
33
Histamine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 75614-87-8, 51-45-6 774
34
Ethanol Approved Phase 4,Phase 3,Phase 2,Phase 1 64-17-5 702
35
Famotidine Approved Phase 4,Phase 2,Phase 3 76824-35-6 3325
36
Memantine Approved, Investigational Phase 4,Phase 2 19982-08-2 4054
37
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 83-43-2 6741
38
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-24-8 5755
39
Iron Approved Phase 4,Phase 3,Phase 2,Phase 1 7439-89-6 23925
40
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-84-3 187
41
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
42
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 76631-46-4, 113775-47-6 68602 5311068 56032
43
Ropivacaine Approved Phase 4,Phase 3 84057-95-4 71273 175805
44
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3,Phase 2,Phase 1 148553-50-8 5486971
45
Interferon beta-1b Approved Phase 4,Phase 2,Phase 3 145155-23-3
46
Oxymetazoline Approved Phase 4,Phase 3,Phase 2,Phase 1 1491-59-4 4636
47
Phenylephrine Approved Phase 4,Phase 3,Phase 2,Phase 1 59-42-7 6041
48
Metoclopramide Approved, Investigational Phase 4 364-62-5 4168
49
Zinc Approved Phase 4,Phase 2 7440-66-6 32051 23994
50
Bupivacaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 2180-92-9, 38396-39-3 2474

Interventional clinical trials:

(show top 50) (show all 2842)
id Name Status NCT ID Phase
1 DECARD: Study of Escitalopram in the Prevention of Depression in Patients With Acute Coronary Syndrome Unknown status NCT00140257 Phase 4
2 Close Kinect Chain Exercise With Kinesio Taping in the Management of Patellofemoral Pain Syndrome Unknown status NCT02241148 Phase 4
3 Study of Escitalopram Versus Placebo in the Treatment of Depressive Syndrome in Alzheimer’s Disease, Vascular Dementia, and Mixed Vascular and Alzheimer’s Dementia Unknown status NCT00229333 Phase 4
4 Saccharomyces Boulardii in Diarrhea Dominant Irritable Bowel Syndrome Unknown status NCT00543478 Phase 4
5 Myoinositol for the Treatment of Ovarian and Psychiatric Disorder in Polycystic Ovary Syndrome (PCOS) Patients Unknown status NCT01246310 Phase 4
6 Comparison of the Pentax AWS® With the Macintosh Laryngoscopic Intubation in Obstructive Sleep Apnea Syndrome Patients Unknown status NCT01428570 Phase 4
7 Study of Clonidine on Sleep Architecture in Children With Tourette's Syndrome (TS) and Comorbid ADHD Unknown status NCT00152750 Phase 4
8 Magnetic Stimulation as a Treatment for Auditory Hallucinations in Schizophrenia Unknown status NCT00186771 Phase 4
9 Cyclobenzaprine Extended Release (ER) for Fibromyalgia Unknown status NCT01041495 Phase 4
10 Tolerance and Effect of Antipsychotics in Children and Adolescents With Psychosis Unknown status NCT01119014 Phase 4
11 Risperidone and Zotepine in the Treatment of Delirium Unknown status NCT00622011 Phase 4
12 Effects of 'Seroquel-XR' on the Improvement of Neurocognitive Function in People At-risk Mental States(ARMS) Unknown status NCT01250847 Phase 4
13 Event-related Potentials in Management of Children With Attention-deficit/Hyperactivity Disorder Unknown status NCT01130467 Phase 4
14 Disease-Specific Questionnaire in Assessing Quality of Life in Patients With Gastrointestinal-Related Neuroendocrine Tumors Unknown status NCT00454376 Phase 4
15 A Clinical Trial of Danhong Injection in Treating Acute Ischemic Stroke Unknown status NCT02152280 Phase 4
16 Effects of Gabapentin Enacarbil on Arousals, Heart Rate, Blood Pressure and PLMs in Restless Legs Syndrome Unknown status NCT02424695 Phase 4
17 Electroconvulsive Therapy (ECT) in Patients With Super Refractory Schizophrenia Unknown status NCT02049021 Phase 4
18 Clinical Study to Evaluate the Efficacy of Anakinra in Patients With Rheumatoid Arthritis and Diabetes Unknown status NCT02236481 Phase 4
19 Efficacy Study of Pentosan Polysulfate Sodium,Hydrodistension and Combination Therapy for Bladder Pain Syndrome Unknown status NCT01895153 Phase 4
20 Efficacy of a Pacemaker Algorithm in Promotion of the Intrinsic Heart Activity. Unknown status NCT00156741 Phase 4
21 Donepezil Treatment for Sleep Apnea Patients Unknown status NCT00912457 Phase 4
22 Efficacy and Safety Study of Guanxin Shutong Capsule to Treat Chronic Stable Angina Unknown status NCT02280850 Phase 4
23 Evaluation of the Effects of Laying Early a Gastric Band on the Prevention of Morbid Obesity Randomized Checked Against Standard Management of Obesity in This Population. Unknown status NCT01700738 Phase 4
24 Tandospirone Combined With Atypical Antipsychotic Drugs in Schizophrenia Unknown status NCT02040883 Phase 4
25 Omega-3 Fatty Acids Efficacy in First-episode of Schizophrenia Unknown status NCT02210962 Phase 4
26 Long-term Efficacy, Safety and Tolerability of Pramipexole in Patients With Idiopathic Moderate to Severe Restless Legs Syndrome (RLS) Completed NCT00472199 Phase 4
27 An Open Label Trial of Duloxetine in the Treatment of Irritable Bowel Syndrome and Comorbid Generalized Anxiety Disorder Completed NCT00961298 Phase 4
28 Open Trial of Duloxetine in Outpatients With Irritable Bowel Syndrome Symptoms and Co-Morbid Major Depression Completed NCT01754493 Phase 4
29 Treatment of Myofascial Pain Syndrome With Lidocaine Injection and Physical Therapy. Completed NCT01250184 Phase 4
30 A Study of Quetiapine Fumarate Sustained Release in Major Depression With Comorbid Fibromyalgia Syndrome Completed NCT00675896 Phase 4
31 Gabapentin Enacarbil (GSK1838262) Adult Restless Leg Syndrome Post Marketing Commitment Study Completed NCT01668667 Phase 4
32 Treatment of Neonatal Abstinence Syndrome Completed NCT01723722 Phase 4
33 A Phase IV Trial With Pramipexole to Investigate the Effects on RLS Symptoms and Sleep Disturbance in Patients With RLS Completed NCT00349531 Phase 4
34 24-Hour Intraocular Pressure Control With Bimatoprost/Timolol Versus Latanoprost as First Choice Completed NCT01448837 Phase 4
35 Paroxetine-CR (Paxil-CR) in the Treatment of Patients With Fibromyalgia Syndrome Completed NCT00610610 Phase 4
36 Developing New Treatments for Tourette Syndrome: Therapeutic Trials With Modulators of Glutamatergic Neurotransmission Completed NCT01018056 Phase 4
37 Post-marketing Study of Gabapentin Enacarbil to Evaluate the Effect in Restless Leg Syndrome (RLS) Patients With Moderate Renal Impairment Completed NCT01981941 Phase 4
38 Low Level Laser Therapy Associated With Exercise in Subacromial Impingement Syndrome Completed NCT02725749 Phase 4
39 Carvedilol Post-intervention Long-term Administration in Large-scale Trial Completed NCT01155635 Phase 4
40 Symptomatic Remission and Social Function in Participants Treated With Paliperidone Extended Release (ER) Completed NCT01577186 Phase 4
41 Effectiveness and Safety of Acupuncture for Climacteric Syndrome in Patients With Breast Cancer Completed NCT01275807 Phase 4
42 Long-term Study Of Ropinirole In Restless Legs Syndrome Completed NCT00329602 Phase 4
43 Riluzole in Fragile X Syndrome Completed NCT00895752 Phase 4
44 Treating Urological Chronic Pelvic Pain Syndrome (UCPPS) Pain Completed NCT02385266 Phase 4
45 Studies of Traditional Chinese Medicine Clinical Efficacy Evaluation Index Completed NCT01502943 Phase 4
46 Escitalopram in Depressive Patients With Acute Coronary Artery Syndrome Completed NCT00419471 Phase 4
47 Curcumin (Tumeric) in the Treatment of Irritable Bowel Syndrome: A Randomized-Controlled Trial Completed NCT00779493 Phase 4
48 Management of Irritable Bowel Syndrome in Primary Care (MIBS Trial) Completed NCT00934973 Phase 4
49 EMINEM: Efficacy of Muscoril In NEck Myofascial Syndromes Completed NCT00272532 Phase 4
50 Radio-frequency (RF)-Based Plasma Micro-tenotomy for the Treatment of Shoulder Impingement Syndrome Completed NCT01554670 Phase 4

Search NIH Clinical Center for Peeling Skin Syndrome

Genetic Tests for Peeling Skin Syndrome

Genetic tests related to Peeling Skin Syndrome:

id Genetic test Affiliating Genes
1 Peeling Skin Syndrome 29 24 CDSN

Anatomical Context for Peeling Skin Syndrome

MalaCards organs/tissues related to Peeling Skin Syndrome:

39
Skin

Publications for Peeling Skin Syndrome

Articles related to Peeling Skin Syndrome:

(show top 50) (show all 53)
id Title Authors Year
1
Acral Peeling Skin Syndrome: A Case Report and Literature Review. ( 27206604 )
2016
2
Acral peeling skin syndrome associated with a novel CSTA gene mutation. ( 26684698 )
2016
3
Hypercalciuria in a child with acral peeling skin syndrome: a case report. ( 25969915 )
2015
4
Novel TGM5 mutations in acral peeling skin syndrome. ( 25644735 )
2015
5
Peeling skin syndrome. ( 26150647 )
2015
6
Acral peeling skin syndrome resulting from mutations in TGM5. ( 25510201 )
2014
7
Adult-onset acral peeling skin syndrome in a non-identical twin: a case report in South Africa. ( 25549719 )
2014
8
Inflammatory peeling skin syndrome caused by homozygous genomic deletion in the PSORS1 region encompassing the CDSN gene. ( 24372652 )
2014
9
A Case of Inflammatory Generalized Type of Peeling Skin Syndrome Possibly Caused by a Homozygous Missense Mutation of CDSN. ( 25473393 )
2014
10
Increased expression of epidermal thymic stromal lymphopoietin in inflammatory peeling skin syndrome. ( 24628284 )
2014
11
Immunoglobulin A Nephropathy in Association with Generalized Inflammatory Peeling Skin Syndrome. ( 25196305 )
2014
12
Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations. ( 24628291 )
2014
13
Acral peeling skin syndrome resembling epidermolysis bullosa simplex in a 10-month-old boy. ( 24019772 )
2013
14
Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B. ( 23957618 )
2013
15
Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A. ( 23534700 )
2013
16
Aberrant distribution patterns of corneodesmosomal components of tape-stripped corneocytes in atopic dermatitis and related skin conditions (ichthyosis vulgaris, Netherton syndrome and peeling skin syndrome type B). ( 23810772 )
2013
17
A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome. ( 22036214 )
2012
18
Inflammatory peeling skin syndrome caused a novel mutation in CDSN. ( 22146835 )
2012
19
Acral peeling skin syndrome in two East-African siblings: case report. ( 22429841 )
2012
20
Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder. ( 22066523 )
2012
21
Netherton syndrome showing a large clinical overlap with generalized inflammatory peeling skin syndrome. ( 22562784 )
2012
22
TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome. ( 22622422 )
2012
23
Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. ( 22289416 )
2012
24
Peeling skin syndrome in eight cases of four different families from India and Bangladesh. ( 22960820 )
2012
25
Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin. ( 21191406 )
2011
26
Peeling skin syndrome: genetic defects in late terminal differentiation of the epidermis. ( 21307953 )
2011
27
Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals. ( 20164844 )
2010
28
Peeling skin syndrome: Current status. ( 20233567 )
2010
29
Generalized peeling skin syndrome: Case report and review of the literature. ( 20233558 )
2010
30
A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family. ( 19440220 )
2009
31
Acral peeling skin syndrome: a case of two brothers. ( 19706098 )
2009
32
Facial peeling skin syndrome: a case report and a brief review. ( 17343587 )
2007
33
Inflammatory peeling skin syndrome studied with electron microscopy. ( 17014649 )
2006
34
A case of peeling skin syndrome successfully treated with topical calcipotriol. ( 16700837 )
2006
35
Peeling skin syndrome: 11 cases from Saudi Arabia. ( 17019101 )
2006
36
Peeling skin syndrome. ( 16709496 )
2006
37
Elevated human tissue kallikrein levels in the stratum corneum and serum of peeling skin syndrome-type B patients suggests an over-desquamation of corneocytes. ( 16778802 )
2006
38
Peeling skin syndrome with aminoaciduria. ( 16060866 )
2005
39
A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. ( 16380904 )
2005
40
Acral peeling skin syndrome: report of two cases. ( 15931780 )
2005
41
Peeling skin syndrome. ( 17642582 )
2004
42
ComA"l-Netherton syndrome and peeling skin syndrome type B: overlapping syndromes or one entity? ( 12100700 )
2002
43
Acral peeling skin syndrome. ( 11100033 )
2000
44
Comel-Netherton syndrome: evolution of manifestation in a 20-year follow-up and phenotypic overlap with peeling skin syndrome type B. ( 10954215 )
2000
45
Peeling skin syndrome with hair changes. ( 9873177 )
1998
46
Localized peeling skin syndrome: case report with ultrastructural study. ( 9767297 )
1998
47
Acral peeling skin syndrome. ( 9126018 )
1997
48
Familial peeling skin syndrome with eosinophilia: clinical, histologic, and ultrastructural study of three cases. ( 8757472 )
1996
49
Peeling skin syndrome. ( 8277017 )
1994
50
Epidermolysis bullosa simplex superficialis. A new variant of epidermolysis bullosa characterized by subcorneal skin cleavage mimicking peeling skin syndrome. ( 2653224 )
1989

Variations for Peeling Skin Syndrome

ClinVar genetic disease variations for Peeling Skin Syndrome:

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

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

Pathways for Peeling Skin Syndrome

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.25 CDSN CSTA TGM5

GO Terms for Peeling Skin Syndrome

Cellular components related to Peeling Skin Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cornified envelope GO:0001533 8.62 CDSN CSTA

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

id Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.54 CDSN COL7A1 CSTA
2 negative regulation of endopeptidase activity GO:0010951 9.43 COL7A1 CSTA
3 negative regulation of peptidase activity GO:0010466 9.4 COL7A1 CSTA
4 single organismal cell-cell adhesion GO:0016337 9.32 CDSN CSTA
5 keratinocyte differentiation GO:0030216 9.26 CDSN CSTA
6 peptide cross-linking GO:0018149 9.16 CSTA TGM5
7 cornification GO:0070268 9.13 CDSN CSTA TGM5
8 epidermis development GO:0008544 8.8 CDSN COL7A1 TGM5

Molecular functions related to Peeling Skin Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 peptidase inhibitor activity GO:0030414 8.62 COL7A1 CSTA

Sources for Peeling Skin Syndrome

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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