Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome

Categories: Neuronal diseases, Rare 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 52 58
Pens Syndrome 52 58
Papular Epidermal Nevus with "skyline" Basal Cell Layer Syndrome 52
Papular Epidermal Nevus with Skyline Basal Cell Layer 52


Orphanet epidemiological data:

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


Orphanet: 58  
Rare skin diseases

External Ids:

Orphanet 58 ORPHA313936

Summaries for Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome

NIH Rare Diseases : 52 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 nevus, epidermal and dowling-degos disease 1. The drugs Povidone-iodine and Povidone have been mentioned in the context of this disorder. Affiliated tissues include lung, breast and t cells.

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 nevus, epidermal 10.7
2 dowling-degos disease 1 10.6
3 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.5
4 autism spectrum disorder 10.5
5 hypospadias 10.5
6 keratosis 10.5
7 dyslexia 10.5

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 1459)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Povidone-iodine Approved Phase 4 25655-41-8
Povidone Approved Phase 4 9003-39-8
Minocycline Approved, Investigational Phase 4 10118-90-8 5281021
Ganirelix Approved Phase 4 123246-29-7, 124904-93-4 25081094
lanreotide Approved Phase 4 108736-35-2
Lymecycline Approved, Investigational Phase 4 992-21-2 5280963
Trimetazidine Approved, Investigational Phase 4 5011-34-7
Tenecteplase Approved Phase 4 191588-94-0
Tirofiban Approved Phase 4 144494-65-5 60947
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
Remifentanil Approved Phase 4 132875-61-7 60815
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
Sulfadiazine Approved, Investigational, Vet_approved Phase 4 68-35-9 5215
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
Dipivefrin Approved Phase 4 52365-63-6 3105
Nedaplatin Approved, Investigational Phase 4 95734-82-0
Vildagliptin Approved, Investigational Phase 4 274901-16-5 6918537
Pimecrolimus Approved, Investigational Phase 4 137071-32-0 17753757 6447131
Prilocaine Approved Phase 4 721-50-6 4906
Glimepiride Approved Phase 4 93479-97-1 3476
Pramlintide Approved, Investigational Phase 4 151126-32-8
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
Mifepristone Approved, Investigational Phase 4 84371-65-3 55245
Latanoprost Approved, Investigational Phase 4 130209-82-4 5311221 5282380
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
Ketoprofen Approved, Vet_approved Phase 4 22071-15-4 3825
Nebivolol Approved, Investigational Phase 4 99200-09-6, 118457-14-0, 152520-56-4 71301
Tetracaine Approved, Vet_approved Phase 4 94-24-6 5411
Ropinirole Approved, Investigational Phase 4 91374-20-8, 91374-21-9 497540 5095
Glucagon Approved Phase 4 16941-32-5
Benzoyl peroxide Approved Phase 4 94-36-0 7187
Rifampicin Approved Phase 4 13292-46-1 5381226 5458213
Famotidine Approved Phase 4 76824-35-6 3325
Zoledronic Acid Approved Phase 4 118072-93-8 68740
Hexetidine Approved, Investigational Phase 4 141-94-6
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 119141-88-7, 161973-10-0 9568614 4594
Morphine Approved, Investigational Phase 4 57-27-2 5288826
Timolol Approved Phase 4 26839-75-8 5478 33624
Loteprednol Approved, Experimental Phase 4 129260-79-3, 82034-46-6 9865442 444025
Idarubicin Approved Phase 4 58957-92-9 42890
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
Hydroxyurea Approved Phase 4 127-07-1 3657
Ranolazine Approved, Investigational Phase 4 142387-99-3, 95635-55-5 56959
Denileukin diftitox Approved, Investigational Phase 4 173146-27-5
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
Carbon monoxide Approved, Investigational Phase 4 630-08-0 281
Pramipexole Approved, Investigational Phase 4 104632-26-0 119570 59868

Interventional clinical trials:

(show top 50) (show all 10000)
# Name Status NCT ID Phase Drugs
1 The Comparison of Picosecond 532 and 1,064 Nanometers Laser and Q-switched Nd:YAG 532 and 1,064 Nanometers Laser in the Treatment of Benign Pigmented Lesions: A Randomized Controlled Trial Unknown status NCT02800525 Phase 4
2 Imiquimod 5% Cream for the Treatment of Periocular Basal Cell Carcinoma Unknown status NCT00803907 Phase 4 Imiquimod 5% cream
3 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients: a Randomized Controlled Pilot Study Unknown status NCT01640678 Phase 4
4 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
5 Telmisartan vs Ramipril for Reduction of Inflammation and Recruitment of Endothelial Progenitor Cells After Acute Coronary Syndrome Unknown status NCT00702936 Phase 4 TELMISARTAN;RAMIPRIL
6 THE METFORMIN AND TRICHLOROACETIC ACID IN TREATMENT OF MELASMA Unknown status NCT03475524 Phase 4 MetFORMIN 1000 Mg Oral Tablet;Placebos;Trichloroacetic Acid Peeling;MetFORMIN 500 Mg Oral Tablet
7 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
8 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)
9 Basal-bolus Insulin Therapy With Insulin Degludec and Insulin Aspart Versus Standard Therapy for the Inpatient Management of Type 2 Diabetes: the IDA2 Study Unknown status NCT03244241 Phase 4 Insulin Degludec 100 UNT/ML [Tresiba]
10 A Multicenter Longitudinal Cross-sectional Pilot Study, to Compare RNFL Thickness Measured by OCT After Treatment With Glatiramer or After no Treatment in Patients With CIS With or Without Optic Neuritis or With Early RRMS Unknown status NCT00910598 Phase 4 glatiramer acetate
11 Validation of a Device for Performing Valgus and Varus Stress X-rays of the Knee Unknown status NCT02444663 Phase 4
12 The Effect of Weight Loss With Orlistat or Sibutramine Administration , Hypocaloric Diet and Physical Exercise , on AMH Levels, in Women With Polycystic Ovary Syndrome Unknown status NCT01475019 Phase 4 Orlistat;Sibutramine
13 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
14 Dissection of the Outer Layer of the Lateral Wall of the Cavernous Sinus Decreases Bleeding as Compared to Direct Tumor Attack in Middle Fossa Meningiomas: A Randomized Controlled Trial Unknown status NCT02863484 Phase 4
15 Decitabine for Myelodysplastic Syndromes and Acute Myeloid Leukemia Before Allogeneic Hematopoietic Cell Transplantation Unknown status NCT01806116 Phase 4 decitabine
16 Sex Steroids in Sjögren's Syndrome: Effect of Substitution Treatment on Fatigue Unknown status NCT00543166 Phase 4 dehydroepiandrosterone
17 Clinical Study to Compare Various Dosing and Titration Guidelines of Insulin Delivered Via V-Go ® in Patients With Type 2 Diabetes Initiating Basal Bolus Therapy in Primary Care Offices (Short Title: TITRATE) Unknown status NCT02361489 Phase 4
18 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
19 Intracuticular Sutures Versus Glue (Dermabond) for Skin Closure After Cesarean Delivery Unknown status NCT02831946 Phase 4
20 An Investigation Into the Effect of Dapagliflozin on Ketogenesis in Type 1 Diabetes Unknown status NCT02962492 Phase 4 Exenatide/Exenatide extended release;Dapagliflozin;Placebo
21 Endothelial Progenitors in Aortic Stenosis: Association With Aortic Stenosis Progression, Severity, Symptoms and Left Ventricular Function Assessed by 2D Strain Echocardiography Unknown status NCT02060071 Phase 4
22 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
23 Effect of Mosapride on Gut Transit in Patients With Chronic Constipation or Constipated Irritable Bowel Syndrome and Healthy Subjects Unknown status NCT02433847 Phase 4 Mosapride
24 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
25 Effects of the Continuous Positive Airway Pressure Ventilation on the Prevalence of the Metabolic Syndrome and Cardiac Morpho-Functional Characteristics in Sleep Apnea Syndrome Unknown status NCT00517777 Phase 4
26 Effects of Glatiramer Acetate (Copaxone) in the Nerve Fiber Layer Thickness and Retinal Function in Diabetic Patients After Pan- Retinal Photocoagulation (PRP), a Double- Masked Randomized Clinical Trial. Unknown status NCT00677664 Phase 4 Glatiramer acetate (Copaxone);Mannitol
27 Tacrolimus Treatment for Refractory Pure Red Cell Aplasia, a Prospective Study Unknown status NCT03540472 Phase 4 tacrolimus
28 Sirolimus Treatment for Refractory Pure Red Cell Aplasia, a Prospective Study Unknown status NCT03364764 Phase 4 Sirolimus
29 Integrative Diagnosis of 18F-FLT Positron Emission Tomography and Magnetic Resonance Imaging to Evaluate the Suspicious Findings on Mammography and Breast Ultrasound: a Pilot Study Unknown status NCT01956890 Phase 4 PET
30 the Long-term Effects of High-doSe pitavaStatin on Diabetogenicity in Comparison With Atorvastatin in Patients With Metabolic Syndrome (LESS-DM) Randomized Clinical Trial Unknown status NCT02940366 Phase 4 Pitavastatin 4 mg orally daily;Atorvastatin 20 mg orally daily
31 Effects of Metformin on Cardiovascular Risk Factors in Postmenopausal Women With Metabolic Syndrome Unknown status NCT01342744 Phase 4 Metformin;Placebo
32 Distribution and Expression of Non-neuronal Transient Receptor Potential (TRPV) Ion Channels in Sensitive Skin Syndrome. Unknown status NCT01871883 Phase 4
33 Acute Rosuvastatin for Preventing Myocardial Damage in Patients With Acute Coronary Syndrome Unknown status NCT01245803 Phase 4 additional rosuvastatin loading;placebo control
34 Effects of New Longacting Insulin Analogs on Metabolic Control, Endogenous Insulin Production, GH/IGF-I Axis and Quality of Life - Comparison of NPH, Glargine Och Detemir Insulin From the Debut of Type 1 Diabetes Mellitus in Adolescents Unknown status NCT01271517 Phase 4 NPH insulin;Glargine;Detemir
35 Evaluation of the Immune Response After Vaccination Against Hepatitis B in Patients With Indolent Lymphoproliferative Disorders With no Treatment. Unknown status NCT01698866 Phase 4
36 Safety and Efficacy of the Novel Selective Nicotinic Receptor Partial Agonist, CHANTIX (Varenicline) in Patients With Acute Coronary Syndrome Unknown status NCT01170338 Phase 4 Varenicline 100 mg by mouth twice daily;control
37 Evaluation of High-dose Corticosteroids on Microcirculation Alterations in Cardiac Surgery, by FMD (Flow Mediated vasoDilation), Near Infrared Spectrophotometry (NIRS) and Biological Analysis (Syndecan-1) Unknown status NCT02798068 Phase 4 Solu-medrol or placebo administration
38 Impact of Pretreatment With Omega 3 Enriched Lipid Emulsion on Early Neurological Complications After Living Donor Liver Transplantation. A Randomized Controlled Trial> Unknown status NCT02544919 Phase 4 SMOF lipid (SMOFLIPID) pre treatment
39 A Multicentre, Randomized, Double-blinded, Parallel-controlled, Non-inferiority Clinical Study Of Safety and Efficacy Of Medical Chitosan for Knee Osteoarthritis Compared With Sodium Hyaluronate Injection Unknown status NCT02323451 Phase 4 Sodium Hyaluronate Injection
40 Effect of Treatment With Stress-Doses Glucocorticoid on Mortality in Patients With ARDS and Relative Adrenal Insufficiency Unknown status NCT00773058 Phase 4 hydrocortisone;placebo
41 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
42 Autologous Punch Grafting in Vitiligo Patients: the Effect of Punchdepth and Punchsize Unknown status NCT01377077 Phase 4
43 The Effect of Terlipressin in the Prevention of Type 2 Hepatorenal Syndrome by Improving Mean Arterial Pressure Unknown status NCT02489864 Phase 4 Terlipressin
44 A Prospective, Randomized, Controlled, Multicenter Study of Kanglaite Injection for the Treatment of Cancer Cachexia Unknown status NCT02553187 Phase 4 Kanglaite Injection
45 Boosted PI VS. NNRTI Based Therapy as Initial Treatment for HIV-1 Infected Patients With Advanced Disease Unknown status NCT00162643 Phase 4 zidovudine+lamivudine+lopinavir/ritonavir;zidovudine + lamivudine + efavirenz
46 Clopidogrel Reloading in Patients With Non-ST Elevation Acute Coronary Syndrome Undergoing PCI on Chronic Clopidogrel Therapy. Results of the ARMYDA RELOAD ACS (Antiplatelet Therapy for Reduction of MYocardial Damage During Angioplasty in Acute Coronary Syndrome) Randomized Trial. Unknown status NCT01572129 Phase 4 Clopidogrel;Placebo
47 Cost Effectiveness and Clinical Outcomes of Wound Closure Using V-Loc™ 90 Sutures. Unknown status NCT01574378 Phase 4
48 Exploratory Study to Assess the Efficacy 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 Escitalopram
49 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)
50 Effect of Alfacalcidol Supplementation to Respiratory Infection, Inflammatory Markers and CD4/CD8 Ratio of Indonesian Elderly Unknown status NCT03292744 Phase 4 Alfacalcidol

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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:

Lung, Breast, T Cells, Skin, B Cells, Bone, Myeloid

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
Papular epidermal nevus with "skyline" basal cell layer (PENS) with extracutaneous findings. 61 52
22985090 2013
Papular Epidermal Nevus with Skyline Basal Cell Layer (PENS): Three New Cases and Review of the Literature. 52
26939784 2016
Papular epidermal nevus with "skyline" basal cell layer (PENS). 52
21315481 2011
Dermoscopy of Papular Epidermal Nevus with Skyline Basal Cell Layer. 61
28111793 2017
Papular Epidermal Nevus with "Skyline" Basal Cell Layer Syndrome - Natural Course: Case Report and Literature Review. 61
28203156 2017
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

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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