MCID: PPL061
MIFTS: 26

Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome

Categories: Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome

MalaCards integrated aliases for Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome:

Name: Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 20 58
Pens Syndrome 20 58
Papular Epidermal Nevus with "skyline" Basal Cell Layer Syndrome 20
Papular Epidermal Nevus with Skyline Basal Cell Layer 20

Characteristics:

Orphanet epidemiological data:

58
pens syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Orphanet 58 ORPHA313936

Summaries for Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome

GARD : 20 Papular epidermal nevus with "skyline" basal cell layer syndrome (PENS) is a very rare type of keratinocytic epidermal nevi that includes a specific type of skin lesion and can be associated with other birth defects and neurological problems. The skin lesions appear as small, slightly scaly, pimples (papules) made of the thickened outer layer of the skin (hyperkerotosis) with a rough, ?at surface. The skin lesions may be visible at birth or soon after birth. There may be one lesion or multiple lesions anywhere on the body. The color of the skin lesions varies from white to brown and the shape may vary as well. Neurological symptoms, such as mild intellectual disability, seizures, and delayed development of mental and movement abilities (psychomotor delay), are present in about 50% of the cases. Psychomotor delay may appear as clumsiness or difficulty playing sports. Deafness, unusual facial features, and genital birth defects, such as hypospadius or a curved penis, have been described in a few cases. The diagnosis of PENS may be confirmed by a biopsy of the skin lesion and/or examination of the skin lesion and surrounding skin under a special microscope (dermoscopy). When there are four or more skin lesions, examination for neurological symptoms may be suggested. The cause of the PENS is not known, but there are several cases where more than one member of a family is affected. Treatment depends on the associated problems and may include surgery to correct genital birth defects, anti-seizure medication, and early intervention or extra help in school. In all presently described cases, the skin lesions have remained stable and benign and have not required treatment. When present, the neurological symptoms do not appear progressive, and in several cases, the seizures and psychomotor delays improved with age.

MalaCards based summary : Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome, also known as pens syndrome, is related to dowling-degos disease 1 and nevus, epidermal. The drugs Phenytoin and Levetiracetam have been mentioned in the context of this disorder. Affiliated tissues include t cells, bone and bone marrow.

Related Diseases for Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome

Diseases related to Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dowling-degos disease 1 10.6
2 nevus, epidermal 10.5
3 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.4
4 autism spectrum disorder 10.4
5 hypospadias 10.4
6 keratosis 10.4
7 dyslexia 10.4

Graphical network of the top 20 diseases related to Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome:



Diseases related to Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome

Symptoms & Phenotypes for Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome

Drugs & Therapeutics for Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome

Drugs for Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 1453)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
2
Levetiracetam Approved Phase 4 102767-28-2 441341
3
Fluoxymesterone Approved, Illicit Phase 4 76-43-7 6446
4
Mannitol Approved, Investigational Phase 4 69-65-8 453 6251
5
Clobazam Approved, Illicit Phase 4 22316-47-8 2789
6
Pentazocine Approved, Vet_approved Phase 4 359-83-1 441278
7
Dezocine Approved, Investigational Phase 4 53648-55-8 40841 3033053
8
Misoprostol Approved Phase 4 59122-46-2 5282381
9
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
10
Ustekinumab Approved, Investigational Phase 4 815610-63-0
11
Rufinamide Approved Phase 4 106308-44-5 129228
12
Vigabatrin Approved Phase 4 60643-86-9, 68506-86-5 5665
13
Stiripentol Approved Phase 4 49763-96-4
14
Nitrazepam Approved Phase 4 146-22-5 4506
15
Ethosuximide Approved Phase 4 77-67-8 3291
16
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
17
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
18
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381 214348
19
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
20
Liraglutide Approved Phase 4 204656-20-2 44147092
21
Loteprednol Approved, Experimental Phase 4 129260-79-3, 82034-46-6 444025 9865442
22
Norepinephrine Approved Phase 4 51-41-2 439260
23
Zoledronic Acid Approved Phase 4 118072-93-8 68740
24
Pramlintide Approved, Investigational Phase 4 151126-32-8
25
Posaconazole Approved, Investigational, Vet_approved Phase 4 171228-49-2 147912
26
Abacavir Approved, Investigational Phase 4 136470-78-5 65140 441300
27
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
28
Nevirapine Approved Phase 4 129618-40-2 4463
29
Tetracaine Approved, Vet_approved Phase 4 94-24-6 5411
30
Adapalene Approved Phase 4 106685-40-9 60164
31
Benzoyl peroxide Approved Phase 4 94-36-0 7187
32
Menotropins Approved Phase 4 9002-68-0, 61489-71-2 5360545
33
Sorbitol Approved Phase 4 50-70-4 5780
34
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
35
Prilocaine Approved Phase 4 721-50-6 4906
36
Glimepiride Approved Phase 4 93479-97-1 3476
37
Denileukin diftitox Approved, Investigational Phase 4 173146-27-5
38
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
39
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
40
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
41
Sertraline Approved Phase 4 79617-96-2 68617
42
Loratadine Approved, Investigational Phase 4 79794-75-5 3957
43
Linagliptin Approved Phase 4 668270-12-0 10096344
44
Gliclazide Approved Phase 4 21187-98-4 3475
45
Desogestrel Approved Phase 4 54024-22-5 40973
46
Avobenzone Approved, Investigational Phase 4 70356-09-1
47
Titanium dioxide Approved Phase 4 13463-67-7
48
Oxybenzone Approved, Investigational Phase 4 131-57-7 4632
49
Nicotine Approved Phase 4 54-11-5 942 89594
50
Pravastatin Approved Phase 4 81093-37-0 54687

Interventional clinical trials:

(show top 50) (show all 10000)
# Name Status NCT ID Phase Drugs
1 Treatment of Superficial Basal Cell Carcinoma by Topical Photodynamic Therapy With Fractionated 5-aminolevulinic Acid 20% Versus Two Stage Topical Photodynamic Therapy With Methylaminolevulinate Unknown status NCT01491711 Phase 4 Methylaminolevulinate PDT in 2 sessions;Fractionated 5-aminolevulinic acid hydrochloride 20% gel PDT
2 OCT Evaluation of Stent Struts Re-endothelization in Patients With Acute Coronary Syndromes: a Comparison of the Intrepide™ Stent vs. Taxus™ Unknown status NCT00914420 Phase 4
3 Rituximab (RTX) Therapy in Steroid Resistant Patients or Patients Relapsing After Intravenous Steroids With Active TAO Unknown status NCT02378298 Phase 4 Rituximab;Iv Methylprednisolone;peroral methylprednisolone and Methotrexate
4 The Study on the Effects of Traditional Chinese Medicine Through a Series of N-of-1 Trials Based on the Mathematical Model of "Carryover Effect" Unknown status NCT03147443 Phase 4 Individualized Decoction;placebo;Tested drug minus heat-clearing herbs
5 Intracoronary Cocktail Injection Improves Outcomes of Fractional Flow Reserve Guided Percutaneous Coronary Intervention in Patients With Acute Coronary Syndrom (ACS) Unknown status NCT02592720 Phase 4 cocktail
6 ß-Cell Function and Glycemic Control of Basal Insulin, Metformin or Sitagliptin in Newly Diagnosed Type 2 Diabetic Patients With Moderate Hyperglycemia Unknown status NCT01717911 Phase 4 Insulin;Metformin;Sitagliptin
7 The Effect of Lidocaine - Prilocaine Cream (EMLA) Versus Mepivacaine Infiltration on Pain Relief During And After Mediolateral Episiotomies: A Randomized Clinical Trial Unknown status NCT03264586 Phase 4 Lidocaine-prilocaine cream;mepivacaine infiltration group
8 The Therapy of Tacrolimus Combined With Entecavir on HBV Associated Glomerulonephritis : A Multicenter, Prospective, Randomized, Controlled, Single-blind Trial. Unknown status NCT03062813 Phase 4 Tacrolimus &entecavir;placebo & entecavir
9 Neurocognitive Outcome Assessment in Patients With Peri-optic Meningiomas After Excision With Or Without Pealing Of The Outer Layer Of The Cavernous Sinus: A Randomized Controlled Single Blinded Trial. Unknown status NCT03190122 Phase 4
10 Esthetic Effect of Casein Phosphopeptide-Amorphous Calcium Phosphate Varnish Versus Tricalcium Phosphate Varnish on Postorthodontic White Spot Lesions: A Randomized Pilot Study Unknown status NCT03217084 Phase 4 MI varnish GC;White varnish 3M
11 Randomized, Long-Term Study About the Effects of Analogue Versus Human Insulin Based Regimens (Insulin Detemir and Aspart Versus NPH- and Regular Human Insulin) on Metabolic Control and Myocardial Function in People With Type 2 Diabetes. Unknown status NCT00747409 Phase 4 insulin aspart and detemir (NovoRapid, Levemir);human regular insulin and NPH insulin (Actrapid, Protaphne)
12 Variability of Glucose Assessed in a Randomized Trial Comparing the Initiation of A Treatment Approach With Biosimilar Basal Insulin Analog Or a Titratable iGlarLixi combinatioN in Type 2 Diabetes Among South Asian Subjects (VARIATION 2 SA Trial) Unknown status NCT03819790 Phase 4 Basal insulin glargine and lixisenatide;Basal insulin Basaglar/Lantus + gliclazide MR;Metformin
13 Comparison of Three Kinds of Postoperative Analgesia After Total Knee Arthroplasty :a Randomized Clinical Trial Unknown status NCT02094339 Phase 4 ropivacaine;ropivacaine;opioid
14 Double Blind Randomized Study of 2% Miconazol Versus 4% Hydroquinone in the Treatment for Melasma. Unknown status NCT01661556 Phase 4 Miconazole;Hydroquinone
15 Intracuticular Sutures Versus Glue (Dermabond) for Skin Closure After Cesarean Delivery Unknown status NCT02831946 Phase 4
16 Effect of Clostridium Butyricum in Treating Irritable Bowel Syndrome: A Randomized, Double-blinded,Placebo- Controlled Multicenter Study Unknown status NCT02614963 Phase 4 Clostridium Butyricum;placebo
17 Prospective and Randomized Trial Comparing Dopplper-Guided Transanal Hemorrhoid Artery Ligation With Recto-anal Repair (HAL-RAR) Versus Excisional Hemorrhoidectomy for the Treatment of Grade III-IV Hemorrhoids Unknown status NCT02216305 Phase 4
18 Imiquimod 5% Cream for the Treatment of Periocular Basal Cell Carcinoma Unknown status NCT00803907 Phase 4 Imiquimod 5% cream
19 The Effect of Preoperative and Post Operative Misoprostol Administration on Intraoperative Blood Loss and Postpartum Hemorrhage in CS Unknown status NCT03680339 Phase 4 Misoprostol;Oxytocin
20 A Randomized ,Opened, Prospective Controlled Trial of Clinical Effectiveness for Icotinib as the Adjunctive Treatment After Surgery in Stage I-IIIB Lung Adenocarcinoma Patients With Epidermal Growth Factor Receptor Gene Mutation Unknown status NCT02283424 Phase 4 Icotinib;chemotherapy (Carboplatin and Docetaxel)
21 Insulin Therapy in the Inpatient Management of Cirrhotic Patients With Type 2 Diabetes Unknown status NCT01143948 Phase 4 Glargine & Glulisine;Regular insulin;NPH & regular insulin
22 Flexible Insulin Therapy Untethered Insulin Regimen Using Insulin Degludec and Continuous Subcutaneous Insulin Infusion in Avidly Exercising Patients With Type 1 Diabetes: FIT Untethered Unknown status NCT03838783 Phase 4 Insulin Degludec
23 Ultrasound-guided (US) Serratus Anterior Plane Block (SAPB) for Acute Rib Fractures in the Emergency Department (ED) Unknown status NCT03619785 Phase 4 Bupivacaine;Fentanyl, morphine, hydromorphone, hydrocodone, acetaminophen, ketorolac, gabapentin, ketamine, ibuprofen
24 Comparison of Two Kinds of Postoperative Analgesia After Amputation:a Randomized Clinical Trial Unknown status NCT02114463 Phase 4 ropivacaine;flurbiprofen
25 Quadripolar Leads for the Management of Heart Failure Patients in the Middle East Unknown status NCT02195843 Phase 4
26 Aggressive Behaviour in Children With Tourette's Syndrome (TS) and Comorbid Attention Deficit Hyperactivity Disorder (ADHD) Unknown status NCT00152750 Phase 4 APO-clonidine
27 SIOP CNS GCT II: Prospective Trial for the Diagnosis and Treatment of Children, Adolescents and Young Adults With Intracranial Germ Cell Tumors Unknown status NCT01424839 Phase 4 Carboplatin, Etoposide, Ifosfamide;Cisplatin, etoposide, Ifosfamide (standard);Cisplatin, Etoposide, Ifosfamide (high dose)
28 Changes in Microbiota and Metabolomic Profile Between Rifaximin Responders and Non-responders In Diarrhoea-Predominant Irritable Bowel Syndrome Unknown status NCT03557788 Phase 4 Rifaximin Oral Tablet
29 A 24-Week, National, Single-Centre, Open-Labelled, Randomised, Parallel-Group Trial Comparing Energy Expenditure With Insulin Detemir Versus NPH Insulin Using a Basal-Bolus Regimen With Insulin Aspart as the Mealtime Insulin in Subjects With Type 2 Diabetes Unknown status NCT00788840 Phase 4 Insulatard;Detemir
30 Study of Comparison the Treatment Effect Between Gastric Bypass and Exenatide in Type 2 Diabetes Unknown status NCT01435980 Phase 4 Exenatide
31 Impact of Insulin Detemir Versus Insulin Glargine on Glycaemic Control and Metabolism During Exercise in Type 1 Diabetes Unknown status NCT01440439 Phase 4 Insulin glargine;Insulin detemir
32 The Difference of Circulating Endothelial-derived and Platelet-derived Microparticles in Patients With Psoriasis Successfully Treated With Stelara(Ustekinumab) Unknown status NCT02693470 Phase 4 Ustekinumab
33 Comparative Study of a Iodine + Cyanoacrylate (Integuseal) vs. Iodine and Isopropyl Alcohol in Skin Preparation for Prevention of Surgical Site Infections in Oncologic Surgery Unknown status NCT01110772 Phase 4
34 Multi-center Clinical Study of Immunosuppressants, Cyclophosphamide, And Cord Blood Transfusion in Treating Patients With Severe Aplastic Anemia Unknown status NCT02838992 Phase 4 Rabbit ATG, (Genzyme);Cy;CsA
35 Pragmatic Randomized Controlled Trial Comparing Treatment Effectiveness of Guideline Indicated Anti-platelet Therapy for Acute Coronary Syndrome in Patients With Chronic Kidney Disease Unknown status NCT03150667 Phase 4 Ticagrelor;Clopidogrel
36 The Safety and Immunogenicity of Enterovirus Type 71 Inactivated Vaccine (Human Diploid Cell) With Two Measles Attenuated Live Vaccine and Live Attenuated Japanese Encephalitis Vaccine at the Same Time Point in Infants (8-month-old) Unknown status NCT03296410 Phase 4
37 Improving Glycaemic Control in Malaysian Patients With Type 2 Diabetes Mellitus With Insulin Pump Therapy Unknown status NCT03112538 Phase 4 Multiple daily injections of insulin
38 Prospective Randomized Study of Effects of Laparoscopic Roux-en-Y Gastric Bypass Versus Laparoscopic Sleeve Gastrectomy Unknown status NCT00667706 Phase 4
39 The Effect of Dexmedetomidine Subsidiary Analgesia and Sedation in Minimally Invasive Spine Surgery Under Local Anesthesia:A Randomized, Double Blind Controlled Trial Unknown status NCT02535273 Phase 4 Dexmedetomidine;Lidocaine;Low-dose Dexmedetomidine;Moderate-dose Dexmedetomidine;High-dose Dexmedetomidine;normal saline
40 Cost Effectiveness and Clinical Outcomes of Wound Closure Using V-Loc™ 90 Sutures. Unknown status NCT01574378 Phase 4
41 Distribution and Expression of Non-neuronal Transient Receptor Potential (TRPV) Ion Channels in Sensitive Skin Syndrome. Unknown status NCT01871883 Phase 4
42 Treatment of Nephrotic Syndrome Relapse With Low Steroid Dose Unknown status NCT02216747 Phase 4 prednisone 60 mg/meter square Body Surface Area;prednisone 45 mg;prednisone 30 mg
43 On-line 3-dimensional Optical Frequency Domain Imaging to Optimize Bifurcation Stenting Using UltiMaster Stent: OPTIMUM Study Unknown status NCT02972489 Phase 4
44 The Effect of Nasal CPAP in Patients With Chronic Fatigue and Sleep-disordered Breathing Unknown status NCT01368718 Phase 4
45 Effect of Treatment With Stress-Doses Glucocorticoid on Mortality in Patients With ARDS and Relative Adrenal Insufficiency Unknown status NCT00773058 Phase 4 hydrocortisone;placebo
46 Intensive Lipid Lowering Treatment in Patients With Non-ST-elevation ACS Undergoing Percutaneous Coronary Intervention Unknown status NCT01040936 Phase 4 Atorvastatin;Atorvastatin
47 Telmisartan vs Ramipril for Reduction of Inflammation and Recruitment of Endothelial Progenitor Cells After Acute Coronary Syndrome Unknown status NCT00702936 Phase 4 TELMISARTAN;RAMIPRIL
48 An Open-label,Multicenter Randomised Study of CTOP/ITE/MTX Compared With CHOP as the First-line Therapy for the New Diagnosed Young Patients With T Cell Non-hodgkin Lymphoma Unknown status NCT01746992 Phase 4 Cyclophosphamide 750mg/m2;Vincristine 1.4mg/m2;Doxorubicin 50mg/m2;prednisone 60mg/m2;ifosfamide 2000mg/m2;pirarubicin 50mg/m2;pirarubicin 25mg/m2;Etoposide phosphate 100mg/m2;methotrexate 1500mg/m2
49 The Impact of Treatment of Anaemia With Intravenous Iron on Haematological Values for Patients After Colorectal Surgery Unknown status NCT02999217 Phase 4 Iron isomaltoside;Saline
50 Comparing Effectiveness of Post-operative Analgesia Between Patient Re-education and the Additional of a Basal Morphine Infusion to IV-PCA Morphine in Patients With Unsatisfactory Analgesia After Laparotomy Unknown status NCT02523846 Phase 4 morphine

Search NIH Clinical Center for Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome

Genetic Tests for Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome

Anatomical Context for Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome

MalaCards organs/tissues related to Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome:

40
T Cells, Bone, Bone Marrow, Skin, Ovary, Liver, Lung

Publications for Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome

Articles related to Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome:

# Title Authors PMID Year
1
Papular epidermal nevus with "skyline" basal cell layer (PENS) with extracutaneous findings. 20 61
22985090 2013
2
Papular Epidermal Nevus with Skyline Basal Cell Layer (PENS): Three New Cases and Review of the Literature. 20
26939784 2016
3
Papular epidermal nevus with "skyline" basal cell layer (PENS). 20
21315481 2011
4
Dermoscopy of Papular Epidermal Nevus with Skyline Basal Cell Layer. 61
28111793 2017
5
Papular Epidermal Nevus with "Skyline" Basal Cell Layer Syndrome - Natural Course: Case Report and Literature Review. 61
28203156 2017
6
PENS syndrome: a new neurocutaneous phenotype. 61
22414678 2012

Variations for Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome

Expression for Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome

Search GEO for disease gene expression data for Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome.

Pathways for Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome

GO Terms for Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome

Sources for Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
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44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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