MCID: PGM030
MIFTS: 26

Pigmentation Anomaly of the Skin

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Pigmentation Anomaly of the Skin

MalaCards integrated aliases for Pigmentation Anomaly of the Skin:

Name: Pigmentation Anomaly of the Skin 58
Abnormality of Skin Pigmentation 29 6
Skin Pigmentation Disorders 42
Skin Pigmentation 17

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Orphanet 58 ORPHA79374

Summaries for Pigmentation Anomaly of the Skin

MedlinePlus : 42 Pigmentation means coloring. Skin pigmentation disorders affect the color of your skin. Your skin gets its color from a pigment called melanin. Special cells in the skin make melanin. When these cells become damaged or unhealthy, it affects melanin production. Some pigmentation disorders affect just patches of skin. Others affect your entire body. If your body makes too much melanin, your skin gets darker. Pregnancy, Addison's disease, and sun exposure all can make your skin darker. If your body makes too little melanin, your skin gets lighter. Vitiligo is a condition that causes patches of light skin. Albinism is a genetic condition affecting a person's skin. A person with albinism may have no color, lighter than normal skin color, or patchy missing skin color. Infections, blisters and burns can also cause lighter skin.

MalaCards based summary : Pigmentation Anomaly of the Skin, also known as abnormality of skin pigmentation, is related to genetic pigmentation anomaly of the skin and polyposis, skin pigmentation, alopecia, and fingernail changes. An important gene associated with Pigmentation Anomaly of the Skin is MTX2 (Metaxin 2). The drugs Metformin and Latanoprost have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and breast.

Related Diseases for Pigmentation Anomaly of the Skin

Diseases related to Pigmentation Anomaly of the Skin via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 248)
# Related Disease Score Top Affiliating Genes
1 genetic pigmentation anomaly of the skin 12.5
2 polyposis, skin pigmentation, alopecia, and fingernail changes 12.5
3 ataxia-telangiectasia with generalized skin pigmentation and early death 12.4
4 red skin pigment anomaly of new guinea 12.3
5 pigmentation disease 11.7
6 russell-silver syndrome, x-linked 11.6
7 thumb deformity, alopecia, pigmentation anomaly 11.6
8 carney complex variant 11.5
9 hypomelanosis of ito 11.3
10 mccune-albright syndrome 11.3
11 carney complex, type 1 11.3
12 pigmented basal cell carcinoma 11.2
13 revesz syndrome 11.2
14 piebald trait with neurologic defects 11.1
15 dyschromatosis universalis hereditaria 11.1
16 macules hereditary congenital hypopigmented and hyperpigmented 11.1
17 xeroderma pigmentosum, complementation group f 11.1
18 incontinentia pigmenti 11.1
19 hemochromatosis, type 2a 11.1
20 warsaw breakage syndrome 11.1
21 legius syndrome 11.0
22 dyskeratosis congenita, autosomal dominant 1 11.0
23 naegeli-franceschetti-jadassohn syndrome 11.0
24 neurofibromatosis, type i 11.0
25 acrocephalopolydactylous dysplasia 11.0
26 microcephalic osteodysplastic primordial dwarfism, type ii 11.0
27 dyskeratosis congenita, autosomal recessive 1 11.0
28 mandibuloacral dysplasia with type a lipodystrophy 11.0
29 spastic paraplegia 23, autosomal recessive 11.0
30 xeroderma pigmentosum, complementation group a 11.0
31 xeroderma pigmentosum, complementation group c 11.0
32 xeroderma pigmentosum, complementation group e 11.0
33 xeroderma pigmentosum, variant type 11.0
34 xeroderma pigmentosum, complementation group g 11.0
35 adrenoleukodystrophy 11.0
36 dyskeratosis congenita, x-linked 11.0
37 lelis syndrome 11.0
38 hemochromatosis, type 2b 11.0
39 dyskeratosis congenita, autosomal dominant 3 11.0
40 nevoid hypermelanosis, linear and whorled 11.0
41 dyskeratosis congenita, autosomal recessive 5 11.0
42 dyskeratosis congenita, autosomal recessive 6 11.0
43 cerebrooculofacioskeletal syndrome 3 11.0
44 vogt-koyanagi-harada disease 11.0
45 dyskeratosis congenita 11.0
46 chromosome 15, trisomy mosaicism 11.0
47 diploid-triploid mosaicism 11.0
48 skin carcinoma 10.3
49 albinism, oculocutaneous, type ii 10.2
50 microphthalmia 10.2

Graphical network of the top 20 diseases related to Pigmentation Anomaly of the Skin:



Diseases related to Pigmentation Anomaly of the Skin

Symptoms & Phenotypes for Pigmentation Anomaly of the Skin

Drugs & Therapeutics for Pigmentation Anomaly of the Skin

Drugs for Pigmentation Anomaly of the Skin (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 126)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 14219 4091
2
Latanoprost Approved, Investigational Phase 4 130209-82-4 5311221 5282380
3
Travoprost Approved Phase 4 157283-68-6 5282226
4
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
5 Hypoglycemic Agents Phase 4
6 Antihypertensive Agents Phase 4
7 Pharmaceutical Solutions Phase 4
8 Ophthalmic Solutions Phase 4
9 Soy Bean Phase 4
10
Ketorolac Approved Phase 3 66635-83-4, 74103-06-3 3826
11
Lidocaine Approved, Vet_approved Phase 3 137-58-6 3676
12
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
13
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
14
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
15
Vitamin D3 Approved, Nutraceutical Phase 3 67-97-0 5280795 6221
16
Ergocalciferol Approved, Nutraceutical Phase 3 50-14-6 5280793
17
Calcifediol Approved, Nutraceutical Phase 3 19356-17-3 5283731 6433735
18 Micronutrients Phase 3
19 Trace Elements Phase 3
20 Vitamins Phase 3
21 Antioxidants Phase 3
22 Nutrients Phase 3
23 Protective Agents Phase 3
24 Calciferol Phase 3
25 Calcium, Dietary Phase 3
26 Ergocalciferols Phase 3
27 Hydroxycholecalciferols Phase 3
28 Vitamin D2 Phase 3
29
Bilirubin Phase 3 69853-43-6, 635-65-4 21252250 5280352
30 Anti-Inflammatory Agents Phase 3
31 Hormones Phase 3
32 Analgesics, Non-Narcotic Phase 3
33 Analgesics Phase 3
34 Anti-Inflammatory Agents, Non-Steroidal Phase 3
35 Antirheumatic Agents Phase 3
36 glucocorticoids Phase 3
37 Hormone Antagonists Phase 3
38 Ketorolac Tromethamine Phase 3
39 Gastrointestinal Agents Phase 3
40 Antineoplastic Agents, Hormonal Phase 3
41 Antiemetics Phase 3
42 Analgesics, Opioid Phase 3
43 Cyclooxygenase Inhibitors Phase 3
44 Liver Extracts Phase 3
45 BB 1101 Phase 3
46
Calcium Nutraceutical Phase 3 7440-70-2 271
47
Triamcinolone Approved, Vet_approved Phase 2 124-94-7 31307
48
Curcumin Approved, Experimental, Investigational Phase 2 458-37-7 969516
49
Nitisinone Approved, Investigational Phase 1, Phase 2 104206-65-7 115355
50
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751

Interventional clinical trials:

(show top 50) (show all 82)
# Name Status NCT ID Phase Drugs
1 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
2 The Effects of Latanoprost, Bimatoprost and Travoprost on Periocular Skin Pigmentation Completed NCT00705757 Phase 4 latanoprost;bimatoprost;travoprost
3 Vascular and Metabolic Effects of Vitamin D Supplementation Associated With Lifestyle Management in Obese Adolescents: Prospective, Randomized, Controlled Trial Completed NCT02400151 Phase 4 Vitamin D supplementation;Placebo
4 Effect of Revival Soy on Weight Loss and Appearance of Skin, Hair, and Nails in High BMI Premenopausal Women Completed NCT00352157 Phase 4
5 Determination of Sensitive Skin in a Mexican Population by Lactic Acid Testing and Its Analysis Through Biophysical Measures Completed NCT01591993 Phase 4
6 Correlation Between Muscle Oxygenation and Skin Pigmentation Withdrawn NCT00747162 Phase 4
7 A Study of the Effects of Pegvisomant on Growth Hormone Excess in McCune-Albright Syndrome Completed NCT00017927 Phase 3 Pegvisomant
8 Routine Use of Transcutaneous Bilirubinometry Reduces the Need for Blood Sampling in Neonates With Jaundice Completed NCT00653874 Phase 3
9 Vitamin D and Osteoporosis Prevention in Elderly African American Women: A 4-year Randomized, Double-blind, Placebo-controlled Study to Investigate the Effect of Vitamin D Status in Elderly African American Women Completed NCT01153568 Phase 3
10 Phase III Study on the Effect of Vitamin D Supplementation on Indices of Mineral and Musculoskeletal Metabolism and on Parameters of Glucose and Fuel Metabolism in Elderly Subjects Completed NCT01315366 Phase 3
11 Vitamin D Status of Pregnant Women and Their Children in Eau Claire, South Carolina: A Prevalence and Supplementation Model for Community Health Care Centers in the U.S. Completed NCT00412087 Phase 3 cholecalciferol (vitamin D3);cholecalciferol;cholecalciferol
12 Bio-equivalency Study of the Effects of Vitamin D2 and Vitamin D3 Supplements on 25-hydroxyvitamin D Levels in Exclusively Breast Fed Canadian Infants Completed NCT01190137 Phase 3
13 A Double-blinded, Prospective, Randomized, Controlled Trial Comparing Dexamethasone Versus Ketorolac Injection for the Treatment of Local Inflammatory Hand and Upper Extremity Disorders Terminated NCT02266433 Phase 3 Ketorolac;Dexamethasone
14 Efficacy and Safety of Intralesional Triamcinolone Acetonide in Vitiligo: A Prospective, Double-Blind Randomized Controlled Trial Unknown status NCT01766609 Phase 2 Triamcinolone Acetonide
15 UVA 1 Phototherapy for Vitiligo Unknown status NCT01787695 Phase 2
16 The Effectiveness of UVB Irradiation in the Treatment of Skin Conditions With Altered Dermal Matrix: An Open Pilot Study Completed NCT00129428 Phase 1, Phase 2
17 Weekly Vitamin D3 for Treatment of Hypovitaminosis D in Children and Adolescents With Inflammatory Bowel Disease Completed NCT02076750 Phase 1, Phase 2
18 Curcumin for the Prevention of Radiation-induced Dermatitis in Breast Cancer Patients Completed NCT01042938 Phase 2 Curcumin C3 Complex;Placebo
19 A Pilot Study of Nitisinone in the Treatment of Oculocutaneous Albinism, Type 1B Completed NCT01838655 Phase 1, Phase 2 Nitisinone
20 A Phase I/II Non-Myeloablative Allogeneic Hematopoietic Stem Cell Transplant for the Treatment of Patients With Hematologic Malignancies Using Busulfan, Fludarabine and Total Body Irradiation Completed NCT00245037 Phase 1, Phase 2 busulfan;cyclosporine;fludarabine phosphate;mycophenolate mofetil;Granulocyte colony-stimulating factor (G-CSF);Phenytoin;Methotrexate
21 Long Term Effects on Skin Hyper Pigmentation With and Without Mesenchymal Stem Cell Enriched Adipose Tissue Grafting for "Contour Deformities With Pigmentary Changes on Face" Recruiting NCT03564808 Phase 2 MSC
22 The Effects of Aldara as an Adjunct to Laser Treatment of Port Wine Stains Terminated NCT00979550 Phase 2 Imiquimod;non-medicated petroleum cream
23 Skeletal Muscle Strength Including Its Energy Metabolism, Bone Mineral Homeostasis and Th1/Th2 Cytokines Expression in Asian Indians With Chronic Hypovitaminosis D Before and After Oral Cholecalciferol Supplementation Completed NCT00682214 Phase 1 Cholecalciferol;Lactose placebo
24 Pilot Study on the Use of the Matrix Radiofrequency for Treatment of Port Wine Stain Birthmarks Withdrawn NCT01166919 Phase 1
25 In Vivo Histology Evaluation of the CO2RE Device Versus the RePair Device in Pre- Abdominoplasty Patients Unknown status NCT02147756
26 Micro vs. Standard Trabeculectomy Study Unknown status NCT02598765
27 Topical vs Injection Application of Mitomycin C Trabeculectomy Trial Unknown status NCT02744690 Mitomycin-C (MMC)
28 Fractional Handpiece With CO2 Laser: Fractional Ablative Laser Treatment of Vulvovaginal Atrophy Unknown status NCT03271944
29 A Clinical Evaluation of the Oxitone Non-invasive Oximeter. Method Comparison Study vs. a Standard Clinical Pulse-oximeter Monitor. A Prospective Open Study Unknown status NCT02658045
30 Imputation of PaO2 From SaO2 in the Respiratory Component of the Sequential Organ Failure Assessment (SOFA) Score Unknown status NCT02598492
31 The Development of a Vertebra Localizing Aid Medical Device Unknown status NCT02603874
32 Evaluation of Feeding Intolerance in Premature Infants Using Near Infrared Spectroscopy Unknown status NCT02534090
33 Comparison Study of Three Regional Oxygen Saturation (rSO2) Systems Across a Wide Range of Skin Colors Completed NCT01326819
34 Efficacy and Safety of Biocellulose Sheet From Coconut Juice Containing Anti-hyperpigmentation Agent ("Biocellulose Mask", "Farhorm®") in Patients Receiving Laser Treatment Completed NCT01806831
35 Evaluation of a New Dermal Cryotherapy System Completed NCT02744794
36 A Multicenter Study to Validate Cosmetic Outcome Scales Used to Assess Irregular Skin Pigmentation and Wrinkling Completed NCT00114673
37 A Randomized, Double-Blind, Placebo-Controlled Trial Evaluating The Safety And Efficacy Of An Oral Supplement Containing Astaxanthin (2 mg) + Lycopene (1.8 mg) + D-Alpha-Tocopherol (10 IU) For The Treatment Of Skin Aging Completed NCT03460860
38 Environmental & Genetic Influences on Vitamin D Status Completed NCT01208636
39 Effects of Maternal Vitamin D Supplementation on Markers of Vitamin D Status and Related Infant and Maternal Outcomes in Southern Ethiopia Completed NCT02210884
40 Vitamin D and Skin Pigmentation in Healthy Humans Exposed to UVB Completed NCT03409510
41 EPR (Electron Paramagnetic Resonance) as Method of Non-invasive Characterization of Melanin Content in Skins With Different Phototypes Completed NCT04270903
42 Vitamin D Deficiency in Elderly African American Women in Central Texas Completed NCT01971411 Calcium 500mg with 200 IU Vitamin D - 2 tablets daily
43 Environmental Influences on Vitamin D Status Completed NCT00780247
44 Vitamin D Status in Pregnant Women Completed NCT02032459
45 Supplemental Vitamin D and Functional Outcomes in Early Adolescence Completed NCT00931580
46 How Much Vitamin D is Needed in Milk Products to Support Vitamin D Intake and Bone Health in Children? Completed NCT02097160
47 Microneedling for Acquired Hypomelanosis : A Randomized Controlled Trial Completed NCT04419350
48 Effects of Vitamin D and Calcium Supplementation on Health of UAE Citizens Completed NCT02662491
49 A Prospective Study of Melanin Index in Those With Fitzpatrick Skin Phototypes I-VI Completed NCT01124513
50 Clinical Evaluation of the Impact of Non-ablative and Fractional Ablative Combination Treatment: a Prospective, Open Label, Single Group With Before-after Study Design Completed NCT01403597

Search NIH Clinical Center for Pigmentation Anomaly of the Skin

Genetic Tests for Pigmentation Anomaly of the Skin

Genetic tests related to Pigmentation Anomaly of the Skin:

# Genetic test Affiliating Genes
1 Abnormality of Skin Pigmentation 29

Anatomical Context for Pigmentation Anomaly of the Skin

MalaCards organs/tissues related to Pigmentation Anomaly of the Skin:

40
Skin, Bone, Breast, Skeletal Muscle, Colon, Liver, Testes

Publications for Pigmentation Anomaly of the Skin

Articles related to Pigmentation Anomaly of the Skin:

# Title Authors PMID Year
1
Oral and nail pigmentations: a useful parallelism for the clinician. 42
31951106 2020
2
Ecchymosis combined with postinflammatory hyperpigmentation associated with acupuncture therapy: An observational study of 167 subjects. 42
31977862 2020
3
The color of skin: yellow diseases of the skin, nails, and mucosa. 42
31896411 2019
4
A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene. 61
11773966 2002

Variations for Pigmentation Anomaly of the Skin

ClinVar genetic disease variations for Pigmentation Anomaly of the Skin:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MTX2 NM_006554.5(MTX2):c.293_294CT[1] (p.Ser98_Leu99insTer)short repeat Pathogenic 827676 2:177193027-177193028 2:176328299-176328300
2 46;Y;inv(X)(q27q28)inversion Uncertain significance 267831

Expression for Pigmentation Anomaly of the Skin

Search GEO for disease gene expression data for Pigmentation Anomaly of the Skin.

Pathways for Pigmentation Anomaly of the Skin

GO Terms for Pigmentation Anomaly of the Skin

Sources for Pigmentation Anomaly of the Skin

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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