MCID: HYP649
MIFTS: 26

Hyperpigmentation with or Without Hypopigmentation

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Hyperpigmentation with or Without Hypopigmentation

MalaCards integrated aliases for Hyperpigmentation with or Without Hypopigmentation:

Name: Hyperpigmentation with or Without Hypopigmentation 54
Fphh 56 71
Hyperpigmentation with or Without Hypopigmentation, Familial Progressive 71
Familial Progressive Hyperpigmentation with or Without Hypopigmentation 29
Familial Progressive Hyper- and Hypopigmentation 56
Hyperpigmentation, Familial Progressive 69
Melanosis Universalis Hereditaria 71
Muh 71

Characteristics:

Orphanet epidemiological data:

56
familial progressive hyper- and hypopigmentation
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Miscellaneous:
hyperpigmented patches increased in size and number with age
onset birth to early infancy

Inheritance:
autosomal dominant


HPO:

32
hyperpigmentation with or without hypopigmentation:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 145250
Orphanet 56 ORPHA280628
UMLS via Orphanet 70 C1840392
ICD10 via Orphanet 34 L81.8
MedGen 40 C1840392

Summaries for Hyperpigmentation with or Without Hypopigmentation

OMIM : 54
Familial progressive hyperpigmentation with or without hypopigmentation (FPHH) is characterized by diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules. These features, which involve the face, neck, trunk, and limbs, are seen at birth or develop early in infancy (summary by Wang et al., 2009 and Amyere et al., 2011). Also see familial progressive hyperpigmentation (FPH1; 614233). (145250)

MalaCards based summary : Hyperpigmentation with or Without Hypopigmentation, also known as fphh, is related to familial progressive hyperpigmentation and hyperpigmentation, familial progressive, 1, and has symptoms including hyperkeratosis, hypopigmented skin patches and vitiligo. An important gene associated with Hyperpigmentation with or Without Hypopigmentation is KITLG (KIT Ligand). The drugs Hydroquinone and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include skin.

UniProtKB/Swiss-Prot : 71 Hyperpigmentation with or without hypopigmentation, familial progressive: A disorder characterized by hyperpigmented patches in the skin, present in early infancy and increasing in size and number with age. Hyperpigmentation has variable intensity, and sometimes is associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules.

Related Diseases for Hyperpigmentation with or Without Hypopigmentation

Diseases related to Hyperpigmentation with or Without Hypopigmentation via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 familial progressive hyperpigmentation 11.2
2 hyperpigmentation, familial progressive, 1 11.0
3 neisseria meningitidis infection 10.9

Symptoms & Phenotypes for Hyperpigmentation with or Without Hypopigmentation

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Skin Histology:
hyperkeratosis with increased melanin in epidermis, especially basal cell layer and tips of rete ridges

Skin Nails & Hair- Skin:
vitiligo (rare)
lentiginosis, generalized (in some patients)
cafe-au-lait spots
hypopigmented skin patches
familial progressive hyperpigmentation and hypopigmentation
more

Clinical features from OMIM:

145250

Human phenotypes related to Hyperpigmentation with or Without Hypopigmentation:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 hyperkeratosis 32 HP:0000962
2 hypopigmented skin patches 32 HP:0001053
3 vitiligo 32 occasional (7.5%) HP:0001045
4 multiple lentigines 32 HP:0001003
5 cafe-au-lait spot 32 HP:0000957
6 progressive hyperpigmentation 32 HP:0007505

Drugs & Therapeutics for Hyperpigmentation with or Without Hypopigmentation

Drugs for Hyperpigmentation with or Without Hypopigmentation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 57)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroquinone Approved Phase 4 123-31-9 785
2
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
3
Metformin Approved Phase 4 657-24-9 14219 4091
4
Desonide Approved, Investigational Phase 4 638-94-8 5311066
5
Avobenzone Approved Phase 4 70356-09-1
6
Benzophenone Approved Phase 4 119-61-9 3102
7
Iron Approved Phase 4 7439-89-6 23925
8
Oxybenzone Approved Phase 4 131-57-7 4632
9 Titanium dioxide Approved Phase 4 13463-67-7
10
Zinc Approved Phase 4 7440-66-6 32051 23994
11
Zinc oxide Approved Phase 4 1314-13-2
12
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
13
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
14
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
15
Nicotinamide Approved, Nutraceutical Phase 4 98-92-0 936
16 Antifungal Agents Phase 4
17 Anti-Infective Agents Phase 4
18 Antioxidants Phase 4
19 Cytochrome P-450 CYP2C9 Inhibitors Phase 4
20 Cytochrome P-450 CYP3A Inhibitors Phase 4
21 Cytochrome P-450 Enzyme Inhibitors Phase 4
22 Hormone Antagonists Phase 4,Phase 2
23 Hormones Phase 4,Phase 2
24 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2
25 Protective Agents Phase 4
26 Radiation-Protective Agents Phase 4
27 Steroid Synthesis Inhibitors Phase 4
28 Hypoglycemic Agents Phase 4
29 Anti-Inflammatory Agents Phase 4,Phase 2
30 Micronutrients Phase 4
31 Trace Elements Phase 4
32 Vitamins Phase 4
33 Antimetabolites Phase 4
34 Hypolipidemic Agents Phase 4
35 Lipid Regulating Agents Phase 4
36 Nicotinic Acids Phase 4
37 Vasodilator Agents Phase 4
38 Vitamin B Complex Phase 4
39 Dermatologic Agents Phase 4,Phase 2
40 octylmethoxycinnamate Phase 4
41 Photosensitizing Agents Phase 4,Phase 2
42 Sunscreening Agents Phase 4
43 Terephthalylidene dicamphor sulfonic acid Phase 4
44 Pharmaceutical Solutions Phase 4,Phase 2
45 Folate Nutraceutical Phase 4
46 Vitamin B3 Nutraceutical Phase 4
47 Vitamin B9 Nutraceutical Phase 4
48
Triamcinolone Approved, Vet_approved Phase 2 124-94-7 31307
49
Aminolevulinic acid Approved Phase 2 106-60-5 137
50
Alprostadil Approved, Investigational Phase 2 745-65-3 149351

Interventional clinical trials:

(show all 21)

id Name Status NCT ID Phase Drugs
1 Clinical Trial of Hydroquinone Versus Miconazol in Melasma Unknown status NCT01661556 Phase 4 Miconazole;Hydroquinone
2 Study of Efficacy of Metformin in the Treatment of Acanthosis Nigricans in Children With Obesity Unknown status NCT02438020 Phase 4 Metformin
3 Ascorbic Acid Versus Diode Laser in the Treatment of Gingival Hyperpigmentation Completed NCT03252418 Phase 4 Ascorbic Acid 500 MG
4 Clinical Trial of 4% Niacinamide Versus 0.05% Desonide for the Treatment of Axillar Hyperpigmentation Completed NCT01542138 Phase 4 Desonide;Niacinamide;Placebo
5 Ultraviolet and UV-Visible Light Photoprotection for the Treatment of Melasma Completed NCT01695356 Phase 4 290-400 nm sunscreen;290-800 nm sunscreen
6 Topical Bimatoprost Solution 0.03%in Stable Vitiligo Withdrawn NCT01202513 Phase 4 Bimatoprost 0.03% topical ophthalmic solution
7 Efficacy and Safety of Intralesional Corticosterois in the Treatment of Vitiligo Unknown status NCT01766609 Phase 2 Triamcinolone Acetonide
8 Photodynamic Therapy (PDT) With Methyl Aminolevulinate (MAL) Cream in Patients With Skin Type V or IV With Acne Vulgaris Completed NCT00673933 Phase 2 Methyl aminolevulinate (MAL) PDT
9 Maximal Use Systemic Exposure (MUSE) Study of Levulan Kerastick Completed NCT02281136 Phase 2 Aminolevulinic Acid (ALA)
10 Maximal Use Systemic Exposure Study of Levulan Kerastick (MUSE 2) Completed NCT02628236 Phase 2 Aminolevulinic Acid (ALA)
11 Short-incubation Levulan Photodynamic Therapy Versus Vehicle for Face/Scalp Actinic Keratosis (AK) Completed NCT01475955 Phase 2 Broad Area ALA 1-hour incubation;Broad Area ALA 2 hour incubation;broad area ALA 3-hour incubation;Spot ALA 2 hour incubation;Vehicle PDT
12 Levulan PDT Versus Vehicle for Extremity Actinic Keratoses (AK) Completed NCT01458587 Phase 2 Aminolevulinic Acid PDT (ALA);Vehicle PDT (VEH)
13 Light Dose Ranging Study of Photodynamic Therapy (PDT) With Levulan + Blue Light Versus Vehicle + Blue Light in Severe Facial Acne Completed NCT00706433 Phase 2 aminolevulinic acid HCL (ALA)
14 A Multicenter Study to Evaluate the Safety and Efficacy of PEP005 Topical Gel When Used to Treat Actinic Keratoses on the Head (Face or Scalp) Completed NCT00700063 Phase 2 PEP005 Topical Gel;PEP005 Topical Gel;PEP005 Topical Gel;Vehicle gel;PEP005 Topical Gel;PEP005 Topical Gel;PEP005 Topical Gel;Vehicle gel
15 Photodynamic Therapy (PDT) With Methyl Aminolevulinate (MAL) Cream in Moderate to Severe Acne Completed NCT00594425 Phase 2 Methyl aminolevulinate (MAL) PDT
16 Fractional Photothermolysis for the Treatment of Burn Scars Unknown status NCT01005992 Phase 1
17 Er:YAG Laser for Treatment of Enlarged Pores Active, not recruiting NCT02544958
18 ReNovaCell in Non-segmental Vitiligo Enrolling by invitation NCT03022019
19 Photodynamic Therapy for Treatment of Cutaneous Squamous Cell Carcinoma in Situ Not yet recruiting NCT03025724 Levulan Kerastick
20 In Vivo Imaging of Pigmentary Disorders by Reflectance Confocal Microscopy Terminated NCT00771355
21 Fractional Laser in Combination With UVB Therapy in Vitiligo Patients Withdrawn NCT02290717 Fluticasone Propionate Cream 0.05%

Search NIH Clinical Center for Hyperpigmentation with or Without Hypopigmentation

Genetic Tests for Hyperpigmentation with or Without Hypopigmentation

Genetic tests related to Hyperpigmentation with or Without Hypopigmentation:

id Genetic test Affiliating Genes
1 Familial Progressive Hyperpigmentation with or Without Hypopigmentation 29

Anatomical Context for Hyperpigmentation with or Without Hypopigmentation

MalaCards organs/tissues related to Hyperpigmentation with or Without Hypopigmentation:

39
Skin

Publications for Hyperpigmentation with or Without Hypopigmentation

Variations for Hyperpigmentation with or Without Hypopigmentation

UniProtKB/Swiss-Prot genetic disease variations for Hyperpigmentation with or Without Hypopigmentation:

71
id Symbol AA change Variation ID SNP ID
1 KITLG p.Asn36Ser VAR_063237 rs121918653

ClinVar genetic disease variations for Hyperpigmentation with or Without Hypopigmentation:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KITLG NM_000899.4(KITLG): c.107A> G (p.Asn36Ser) single nucleotide variant Pathogenic rs121918653 GRCh37 Chromosome 12, 88939551: 88939551
2 KITLG NM_000899.4(KITLG): c.98T> C (p.Val33Ala) single nucleotide variant Pathogenic rs730882156 GRCh37 Chromosome 12, 88939560: 88939560
3 KITLG NM_000899.4(KITLG): c.100A> C (p.Thr34Pro) single nucleotide variant Pathogenic rs730882157 GRCh37 Chromosome 12, 88939558: 88939558

Expression for Hyperpigmentation with or Without Hypopigmentation

Search GEO for disease gene expression data for Hyperpigmentation with or Without Hypopigmentation.

Pathways for Hyperpigmentation with or Without Hypopigmentation

GO Terms for Hyperpigmentation with or Without Hypopigmentation

Sources for Hyperpigmentation with or Without Hypopigmentation

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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