MCID: HYP855
MIFTS: 26

Hyperpigmentation of the Skin

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Hyperpigmentation of the Skin

MalaCards integrated aliases for Hyperpigmentation of the Skin:

Name: Hyperpigmentation of the Skin 58 6 17

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

UMLS via Orphanet 72 C0162834
Orphanet 58 ORPHA79375

Summaries for Hyperpigmentation of the Skin

MalaCards based summary : Hyperpigmentation of the Skin is related to skin disease and genetic hyperpigmentation of the skin. An important gene associated with Hyperpigmentation of the Skin is COL7A1 (Collagen Type VII Alpha 1 Chain), and among its related pathways/superpathways are Factors involved in megakaryocyte development and platelet production and Mitophagy - animal. Affiliated tissues include skin, bone and breast.

Related Diseases for Hyperpigmentation of the Skin

Graphical network of the top 20 diseases related to Hyperpigmentation of the Skin:



Diseases related to Hyperpigmentation of the Skin

Symptoms & Phenotypes for Hyperpigmentation of the Skin

Drugs & Therapeutics for Hyperpigmentation of the Skin

Search Clinical Trials , NIH Clinical Center for Hyperpigmentation of the Skin

Genetic Tests for Hyperpigmentation of the Skin

Anatomical Context for Hyperpigmentation of the Skin

MalaCards organs/tissues related to Hyperpigmentation of the Skin:

40
Skin, Bone, Breast, Pituitary, Bone Marrow, Cortex, Retina

Publications for Hyperpigmentation of the Skin

Articles related to Hyperpigmentation of the Skin:

(show top 50) (show all 192)
# Title Authors PMID Year
1
Hyperpigmentation of the skin and sclerae. 61
33569914 2021
2
Minocycline Impact on Redox Homeostasis of Normal Human Melanocytes HEMn-LP Exposed to UVA Radiation and Hydrogen Peroxide. 61
33561995 2021
3
Catamenial Hyperpigmentation: A Review. 61
32884614 2020
4
Out of the Blue: A Case of Blue Subungual Discoloration Associated with Prolonged Tetracycline Use. 61
32467786 2020
5
A broad range of symptoms in allgrove syndrome: single center experience in Southeast Anatolia. 61
31435881 2020
6
Consumption of Polyphenols in Coffee and Green Tea Alleviates Skin Photoaging in Healthy Japanese Women. 61
32104042 2020
7
Palladium causes bizarre skin hyperpigmentation in long-term dihydrocodeinone 'Braun' abusers. 61
31494978 2020
8
[Christmas article: Christmas-related exogenous palmar hyperpigmentation]. 61
31908261 2019
9
Oxandrolone for treatment of lipodermatosclerosis: case report. 61
31723343 2019
10
ADRENAL INSUFFICIENCY CAUSED BY PARACOCCIDIOIDOMYCOSIS: THREE CASE REPORTS AND REVIEW. 61
31967043 2019
11
'Need of the Hour': Early Diagnosis and Management of Multidrug Resistant Tuberculosis of the Spine: An Analysis of 30 Patients from a "High Multidrug Resistant Tuberculosis Burden" Country. 61
30669824 2019
12
Bilateral adrenal myelolipomas presenting as acute adrenal insufficiency in an adult with congenital adrenal hyperplasia. 61
30739087 2019
13
Efficacy and safety of 1927 nm fractional Thulium fiber laser for the treatment of melasma: a retrospective study of 100 patients. 61
31690148 2019
14
Porphyria Cutanea Tarda Associated With Acute Hemorrhagic Pancreatitis. 61
31155958 2019
15
Aminoluciferin 4-hydroxyphenyl amide enables bioluminescence detection of endogenous tyrosinase. 61
30467562 2018
16
3-hydroxycoumarin loaded vesicles for recombinant human tyrosinase inhibition in topical applications. 61
30107341 2018
17
Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1. 61
30090628 2018
18
Green Bone: Minocycline-Induced Discoloration of Bone Rarely Reported in Foot and Ankle. 61
29748107 2018
19
Downregulation of α-Melanocyte-Stimulating Hormone-Induced Activation of the Pax3-MITF-Tyrosinase Axis by Sorghum Ethanolic Extract in B16F10 Melanoma Cells. 61
29865165 2018
20
Histopathological findings in pregnancy associated cutaneous hyperpigmentation. 61
29345316 2018
21
Remarkable effects of imatinib in a family with young onset gastrointestinal stromal tumors and cutaneous hyperpigmentation associated with a germline KIT-Trp557Arg mutation: case report and literature overview. 61
28710566 2018
22
Laugier-Hunziker syndrome in endocrine clinical practice. 61
30087778 2018
23
Multiparameter Investigation of a 46,XX/46,XY Tetragametic Chimeric Phenotypical Male Patient with Bilateral Scrotal Ovotestes and Ovulatory Activity. 61
28926831 2018
24
Double cross finger flaps from the middle to the index or ring finger: A case series of 4 patients with an emphasis on donor finger morbidity. 61
29604530 2018
25
Histopathologic Findings of Cutaneous Hyperpigmentation in Addison Disease and Immunostain of the Melanocytic Population. 61
28609345 2017
26
Nail Matrix Pathology in Cronkhite-Canada Syndrome: The First Case Report. 61
29058694 2017
27
CK1α ablation in keratinocytes induces p53-dependent, sunburn-protective skin hyperpigmentation. 61
28878021 2017
28
Multifocal oral melanoacanthoma associated with Addison's disease and hyperthyroidism: a case report. 61
28658350 2017
29
Tranexamic acid in treatment of melasma: A comprehensive review of clinical studies. 61
28133910 2017
30
Amyloidosis Cutis Dyschromica, a Rare Cause of Hyperpigmentation: A New Case and Literature Review. 61
28557715 2017
31
Minocycline-induced hyperpigmentation of the skin, sclera, and palpebral conjunctiva. 61
28457312 2017
32
[A woman with hyperpigmentation and dark urine]. 61
29303091 2017
33
Diffuse cutaneous melanosis: rare complication of metastatic melanoma. 61
29267449 2017
34
[Post-inflammatory hyperpigmentation]. 61
29452653 2016
35
Amitriptyline-induced cutaneous hyperpigmentation: case report and review of psychotropic drug-associated mucocutaneous hyperpigmentation. 61
27267189 2016
36
Tigecycline Induced Hyperpigmentation of the Skin. 61
27011952 2016
37
Cronkhite-Canada Syndrome: A Rare Cause of Chronic Diarrhoea in a Young Man. 61
26941798 2016
38
Comparison of long-pulsed alexandrite laser and topical tretinoin-ammonium lactate in axillary acanthosis nigricans: A case series of patients in a before-after trial. 61
27999648 2016
39
Treatment of Massive Labial and Gingival Hypertrophy in a Patient With Infantile Systemic Hyalinosis-A Case Report. 61
26207694 2015
40
Baicalin-induced Akt activation decreases melanogenesis through downregulation of microphthalmia-associated transcription factor and tyrosinase. 61
25934572 2015
41
Benzanthrone induced immunotoxicity via oxidative stress and inflammatory mediators in Balb/c mice. 61
25454808 2015
42
Outcomes in pituitary surgery in Nelson's syndrome--therapeutic pitfalls. 61
26662649 2015
43
Hydroxychloroquine-induced hyperpigmentation of the skin. 61
25554808 2015
44
Acquired universal melanosis (carbon baby syndrome). 61
23331086 2014
45
Clinical and radiological observations in a case series of 26 patients with fibrous dysplasia. 61
24390518 2014
46
Dyskeratosis congenita in a Nigerian boy. 61
24791055 2014
47
[A neonate with dark brown coloured buttocks and upper legs]. 61
24423489 2014
48
[Terra firma-forme dermatosis]. 61
24206804 2013
49
Clinical and neurological findings of severe vitamin B12 deficiency in infancy and importance of early diagnosis and treatment. 61
23781950 2013
50
Inhibitory effect of liposome-encapsulated anthocyanin on melanogenesis in human melanocytes. 61
23570521 2013

Variations for Hyperpigmentation of the Skin

ClinVar genetic disease variations for Hyperpigmentation of the Skin:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL7A1 NM_000094.3(COL7A1):c.6205C>T (p.Arg2069Cys) SNV Pathogenic 17463 rs121912855 3:48612651-48612651 3:48575218-48575218
2 COL7A1 NM_000094.3(COL7A1):c.706C>T (p.Arg236Ter) SNV Pathogenic 17462 rs121912854 3:48630348-48630348 3:48592915-48592915
3 MFN2 NM_014874.3(MFN2):c.280C>T (p.Arg94Trp) SNV Pathogenic 2276 rs119103263 1:12052716-12052716 1:11992659-11992659

Expression for Hyperpigmentation of the Skin

Search GEO for disease gene expression data for Hyperpigmentation of the Skin.

Pathways for Hyperpigmentation of the Skin

Pathways related to Hyperpigmentation of the Skin according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.15 TP53 MFN2
2 10.46 TP53 MFN2

GO Terms for Hyperpigmentation of the Skin

Biological processes related to Hyperpigmentation of the Skin according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell cycle arrest GO:0007050 8.96 TP53 MFN2
2 apoptotic process GO:0006915 8.8 TP53 MFN2 GJB6

Sources for Hyperpigmentation of the Skin

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
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
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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