MCID: PLN025
MIFTS: 25

Peeling Skin Syndrome 5

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Peeling Skin Syndrome 5

MalaCards integrated aliases for Peeling Skin Syndrome 5:

Name: Peeling Skin Syndrome 5 54 71
Pss5 71

Characteristics:

OMIM:

54
Miscellaneous:
onset of symptoms between 3 to 6 months of age
symptoms exacerbated by heat, humidity, or friction

Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 54 617115
MedGen 40 CN238490
MeSH 42 D003873

Summaries for Peeling Skin Syndrome 5

UniProtKB/Swiss-Prot : 71 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). The drugs Citalopram and Aripiprazole have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and testes.

OMIM : 54
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)

Related Diseases for Peeling Skin Syndrome 5

Symptoms & Phenotypes for Peeling Skin Syndrome 5

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Skin Histology:
widening of intercellular spaces
disadhesion of keratinocytes in basal and suprabasal layers of epidermis
hyperkeratosis
acanthosis

Skin Nails & Hair- Skin:
diffuse yellowish hyperkeratotic palmoplantar plaques (in some patients)
superficial scaling of legs (in some patients)
superficial scaling of forearms (in some patients)
underlying erythema (in some patients)
superficial peeling of small areas of dorsal and palmar surfaces of the hands and feet


Clinical features from OMIM:

617115

Drugs & Therapeutics for Peeling Skin Syndrome 5

Drugs for Peeling Skin Syndrome 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 551)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citalopram Approved Phase 4,Phase 2 59729-33-8 2771
2
Aripiprazole Approved, Investigational Phase 4,Phase 3,Phase 2 129722-12-9 60795
3
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
4
Methylphenidate Approved, Investigational Phase 4,Phase 2 113-45-1 4158
5
Donepezil Approved Phase 4,Phase 3,Phase 2 120014-06-4 3152
6
Menthol Approved Phase 4,Phase 3,Phase 1 2216-51-5 16666
7
Risperidone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 106266-06-2 5073
8
Haloperidol Approved Phase 4,Phase 3,Phase 2,Phase 1 52-86-8 3559
9
Acetylcholine Approved Phase 4,Phase 2 51-84-3 187
10
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 2 148553-50-8 5486971
11
Clonidine Approved Phase 4,Phase 3,Phase 2,Phase 1 4205-90-7 2803
12
Diazepam Approved, Illicit, Vet_approved Phase 4 439-14-5 3016
13
Lofexidine Approved, Investigational Phase 4,Phase 1 31036-80-3 30668
14
Gabapentin Approved, Investigational Phase 4,Phase 3 60142-96-3 3446
15
Olanzapine Approved, Investigational Phase 4,Phase 3,Phase 2 132539-06-1 4585
16
Trifluoperazine Approved Phase 4 117-89-5 5566
17 Piracetam Approved Phase 4 7491-74-9
18
Paroxetine Approved, Investigational Phase 4 61869-08-7 43815
19
Morphine Approved, Investigational Phase 4,Phase 3 57-27-2 5288826
20
Flutamide Approved Phase 4 13311-84-7 3397
21
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 5460373 44475014
22
Oxybutynin Approved, Investigational Phase 4 5633-20-5 4634
23
Lidocaine Approved, Vet_approved Phase 4,Phase 3,Phase 2 137-58-6 3676
24
Memantine Approved, Investigational Phase 4 19982-08-2 4054
25
Heparin Approved, Investigational Phase 4,Phase 3 9005-49-6 772 46507594
26
Aspirin Approved, Vet_approved Phase 4,Phase 2 50-78-2 2244
27
Epinephrine Approved, Vet_approved Phase 4,Phase 2 51-43-4 5816
28 Racepinephrine Approved Phase 4,Phase 2
29
Cinnarizine Approved Phase 4 298-57-7 2761 1547484
30
Histamine Approved, Investigational Phase 4,Phase 3,Phase 2 75614-87-8, 51-45-6 774
31
Methamphetamine Approved, Illicit Phase 4 537-46-2 10836
32
Benzocaine Approved Phase 4,Phase 2,Phase 3 1994-09-7, 94-09-7 2337
33
Milnacipran Approved Phase 4 92623-85-3 65833
34
Norepinephrine Approved Phase 4,Phase 3 51-41-2 439260
35
Molindone Approved Phase 4 7416-34-4 23897
36
Sertraline Approved Phase 4,Phase 2 79617-96-2 68617
37
Ziprasidone Approved Phase 4,Phase 3,Phase 2 146939-27-7 60854
38
Armodafinil Approved, Investigational Phase 4,Phase 3,Phase 2 112111-43-0
39
Modafinil Approved, Investigational Phase 4,Phase 3,Phase 2 68693-11-8 4236
40
Fesoterodine Approved Phase 4,Phase 3 286930-02-7, 286930-03-8 6918558
41
Glycerol Approved, Investigational Phase 4 56-81-5 753
42
Hyaluronic acid Approved, Vet_approved Phase 4,Phase 2 9004-61-9 53477741 24759
43 Mirabegron Approved Phase 4,Phase 3 223673-61-8
44
Sunitinib Approved, Investigational Phase 4,Phase 1 341031-54-7, 557795-19-4 5329102
45
Guaifenesin Approved, Vet_approved Phase 4,Phase 3,Phase 2 93-14-1 3516
46
Oxycodone Approved, Illicit, Investigational Phase 4,Phase 3,Phase 2 76-42-6 5284603
47
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 2,Phase 1 52485-79-7 40400 644073
48
Pramipexole Approved, Investigational Phase 4,Phase 3,Phase 2 104632-26-0 59868 119570
49
Ropinirole Approved, Investigational Phase 4 91374-20-8, 91374-21-9 5095 497540
50
Ketotifen Approved Phase 4 34580-14-8, 34580-13-7 3827

Interventional clinical trials:

(show top 50) (show all 645)

id Name Status NCT ID Phase Drugs
1 DECARD: Study of Escitalopram in the Prevention of Depression in Patients With Acute Coronary Syndrome Unknown status NCT00140257 Phase 4 Escitalopram
2 Myoinositol for the Treatment of Ovarian and Psychiatric Disorder in Polycystic Ovary Syndrome (PCOS) Patients Unknown status NCT01246310 Phase 4
3 Pain Relief In Irritable Bowel Syndrome Unknown status NCT02573844 Phase 4 Proklama
4 Tolerance and Effect of Antipsychotics in Children and Adolescents With Psychosis Unknown status NCT01119014 Phase 4 Aripiprazole;Quetiapine
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 Event-related Potentials in Management of Children With Attention-deficit/Hyperactivity Disorder Unknown status NCT01130467 Phase 4 methylphenidate;Atomoxetine
7 Donepezil Treatment for Sleep Apnea Patients Unknown status NCT00912457 Phase 4 donepezil;placebo
8 Efficacy Study of Pentosan Polysulfate Sodium,Hydrodistension and Combination Therapy for Bladder Pain Syndrome Unknown status NCT01895153 Phase 4
9 Lofexidine for Inpatient Opiate Detox in Singapore Completed NCT01675648 Phase 4 Lofexidine;Diazepam;Placebo for Lofexidine;Placebo for Diazepam
10 Radio-frequency (RF)-Based Plasma Micro-tenotomy for the Treatment of Shoulder Impingement Syndrome Completed NCT01554670 Phase 4
11 Gabapentin Enacarbil (GSK1838262) Adult Restless Leg Syndrome Post Marketing Commitment Study Completed NCT01668667 Phase 4 GSK1838262 600 mg;GSK1838262 450 mg;GSK1838262 300 mg;GSK1838262 Placebo match
12 Olanzapine vs. Low-dose Olanzapine Plus Trifluoperazine Completed NCT02704962 Phase 4 full-dose olanzapine
13 Comparison of Keppra and Clonidine in the Treatment of Tics Completed NCT00370838 Phase 4 Levetiracetam;Clonidine
14 Paroxetine-CR (Paxil-CR) in the Treatment of Patients With Fibromyalgia Syndrome Completed NCT00610610 Phase 4 Paroxetine CR;Placebo
15 Escitalopram in Depressive Patients With Acute Coronary Artery Syndrome Completed NCT00419471 Phase 4 Escitalopram;Placebo
16 NAS Treatment - Opiate Versus Non-Opiate Completed NCT01734551 Phase 4 Morphine;Clonidine
17 Use of Sildenafil (Viagra) to Alter Fatigue, Functional Status and Impaired Cerebral Blood Flow in Patients With CFS Completed NCT00598585 Phase 4 Sildenafil (Viagra);Placebo
18 Effectiveness of Flutamide in Treating Women With Premenstrual Dysphoric Disorder Completed NCT00611923 Phase 4 Flutamide;Placebo
19 Effectiveness of Vitamin Supplementation in Treating People With Residual Symptoms of Schizophrenia Completed NCT00611806 Phase 4
20 Escitalopram Trial for Irritable Bowel Syndrome (IBS) Patients With Panic Disorder Completed NCT01551225 Phase 4 Escitalopram
21 Determination of Sensitive Skin and Its Biophysical Response in a Latin-American Population Completed NCT01591993 Phase 4
22 Efficacy Study of Early Onset of Antipsychotic Drug Action in Schizophrenia Completed NCT00337662 Phase 4 olanzapine;risperidone;risperidone
23 Spinal Cord Stimulation for Predominant Low Back Pain Completed NCT01697358 Phase 4 Optimal Medical Management (OMM)
24 Flexibly adding-on Second Antimuscarinic Agent to the First Antimuscarinics for Refractory Overactive Bladder Syndrome Completed NCT01824420 Phase 4 Detrusitol 4mg QD and Oxybutynin ER 5mg QD;Detrusitol 4mg QD
25 A Study Of Lidocaine Patch 5% Alone, Gabapentin Alone, And Lidocaine Patch 5% And Gabapentin In Combination For The Relief Of Pain In Patients With Diverse Peripheral Neuropathic Pain Conditions Completed NCT00904202 Phase 4 Placebo Capsules + Placebo Patch;Placebo capsules + Lidoderm®;Gabapentin + Placebo;Gabapentin + Lidoderm®;Gabapentin 300 mg capsules 1800 mg/day + placebo patch;Gabapentin 1800 mg/day + Lidoderm patch
26 Efficacy and Safety of Memantine Hydrochloride in Enhancing the Cognitive Abilities of Young Adults With Down Syndrome Completed NCT01112683 Phase 4 Memantine;Placebo
27 Aqueous Flare of a Hydrophobic Acrylic Single-piece Open-loop IOL With Modified Material Surface Properties Completed NCT01767012 Phase 4
28 Open Label Trial of Aripiprazole in Children and Adolescents With Tourette's Disorder Completed NCT00241176 Phase 4 Aripiprazole
29 Platelet Hyperreactivity to Aspirin and Stroke Completed NCT00766896 Phase 4 Aspirin (platelet sensitive versus platelet hyperreactivity)
30 Therapeutic Effect of Quetiapine on Methamphetamine-Induced Psychosis Completed NCT01939093 Phase 4 Diazepam;Stugeron
31 Olanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia Completed NCT00103571 Phase 4 Olanzapine;Aripiprazole
32 Study of Milnacipran in Patients With Inadequate Response to Duloxetine for the Treatment of Fibromyalgia Completed NCT01077375 Phase 4 Placebo;Milnacipran
33 A Safety and Effectiveness Study of Paliperidone Palmitate in Chinese Patients With Schizophrenia Completed NCT01947803 Phase 4 Paliperidone Palmitate
34 Treatment of Early Onset Schizophrenia Spectrum Disorders (TEOSS) Completed NCT00053703 Phase 4 Risperidone;Olanzapine (enrollment closed in this treatment);Molindone
35 Effectiveness of Sertraline and Cognitive Behavioral Therapy in Treating Pediatric Obsessive-Compulsive Disorder Completed NCT00382291 Phase 4 Regular Titration;Placebo;Slow Titration
36 Comparison of Antipsychotics for Metabolic Problems in Schizophrenia or Schizoaffective Disorder Completed NCT00423878 Phase 4 Risperidone;Olanzapine;Quetiapine;Aripiprazole
37 Symptomatic Remission and Social Function in Participants Treated With Paliperidone Extended Release (ER) Completed NCT01577186 Phase 4 Paliperidone ER
38 Single-dose Linaclotide for Capsule Endoscopy Preparation Completed NCT02465385 Phase 4 Linaclotide
39 Treatment of Sleep Disordered Breathing In Acute Decompensated Heart Failure Patients Completed NCT00804349 Phase 4
40 A Study of the Efficacy and Safety of Intramuscular Ziprasidone Followed by Oral Ziprasidone for the Treatment of Psychosis Completed NCT00644800 Phase 4 Ziprasidone
41 Metabolic Effects of Melatonin in Patients Treated With Second Generation Antipsychotics Completed NCT01811160 Phase 4 Melatonin;Placebo
42 Heart Rate Variability in Fibromyalgia - Effects of Strengthening Exercises Completed NCT02004405 Phase 4
43 Discomfort and Psychosocial Difficulties in Fibromyalgia Completed NCT02078791 Phase 4 Botox infiltration
44 Study to Evaluate Armodafinil Treatment in Improving Prefrontal Cortical Activation and Working Memory Performance Completed NCT00711516 Phase 4 Armodafinil;Placebo
45 Efficacy of Ramelteon on Insomnia Symptoms Associated With Jet Lag in Healthy Adult Volunteers Completed NCT00492011 Phase 4 Ramelteon;Ramelteon;Ramelteon;Placebo
46 A Follow-Up Study of Schizophrenic Participants Following Treatment Discontinuation After Remission From a First Psychotic Episode Completed NCT00378092 Phase 4 Oral risperidone;Risperidone Long-Acting Injection (RLAI);Risperidone Long-Acting Injection (RLAI)
47 Different Safety Profile of Risperidone and Paliperidone Extended-release Completed NCT01284959 Phase 4 risperidone;paliperidone ER;placebo
48 Tolerability, Safety and Efficacy of Flexibly Dosed Paliperidone ER in Patients With Schizophrenia Completed NCT01724359 Phase 4 Paliperidone ER
49 Paliperidone Extended Release in Schizophrenia Participants With Duration of Illness Less Than 10 Years Completed NCT01362439 Phase 4 Paliperidone ER
50 Effects of Neupro on Cardiovascular Observations in Patients With Restless Legs Syndrome Completed NCT01455012 Phase 4 Rotigotine;Placebo

Search NIH Clinical Center for Peeling Skin Syndrome 5

Genetic Tests for Peeling Skin Syndrome 5

Anatomical Context for Peeling Skin Syndrome 5

MalaCards organs/tissues related to Peeling Skin Syndrome 5:

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

Publications for Peeling Skin Syndrome 5

Variations for Peeling Skin Syndrome 5

ClinVar genetic disease variations for Peeling Skin Syndrome 5:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SERPINB8 NM_198833.1(SERPINB8): c.947delA (p.Lys316Serfs) deletion Pathogenic rs886037923 GRCh37 Chromosome 18, 61654334: 61654334
2 SERPINB8 NM_198833.1(SERPINB8): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs374612640 GRCh38 Chromosome 18, 63978310: 63978310
3 SERPINB8 NM_198833.1(SERPINB8): c.850C> T (p.Arg284Ter) single nucleotide variant Pathogenic rs144666367 GRCh38 Chromosome 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
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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