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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Skin Pigmentation

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Disease relevance of Skin Pigmentation


Psychiatry related information on Skin Pigmentation


High impact information on Skin Pigmentation


Chemical compound and disease context of Skin Pigmentation


Biological context of Skin Pigmentation

  • Clinically, our HPS-4 patients exhibited iris transillumination, variable hair and skin pigmentation, absent platelet dense bodies, and occasional pulmonary fibrosis and granulomatous colitis, a severe phenotype similar to that of patients with HPS-1 [15].
  • Research on the MC1R gene has not only shown the importance of this gene in hair and skin pigmentation but also in senescence and immunity [16].
  • The peptide also has many other target sites in the skin and while it may have a role in regulating skin pigmentation in humans, it should not be viewed solely as a pigmentary peptide. alpha-MSH clearly has many different actions and its primary role in the skin may be to maintain homeostasis [17].
  • This review will focus on polymorphisms in receptors that bind biogenic amines, calcium, opioids, endothelin, and those that also regulate taste, skin pigmentation, and oogenesis that have been suggested to cause variations of physiology [18].
  • On-line HDF significantly reduced the amount of erythropoietin needed and improved intra- and inter-dialysis symptoms, physical well-being, menstruation and skin pigmentation when frequency of HDF is increased to three time per week [19].

Anatomical context of Skin Pigmentation


Associations of Skin Pigmentation with chemical compounds


Gene context of Skin Pigmentation

  • We show that TYR and OCA2 have measurable effects on skin pigmentation differences between the west African and west European parental populations [30].
  • Moreover, the observed ethnic variation in TYRP1 protein expression suggests that TYRP1 may play a significant role in mediating ethnic differences in melanogenesis and constitutive skin pigmentation in vivo [31].
  • Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit (PRKAR1A) in patients with the "complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas" (Carney complex) [32].
  • Identification of the specific ASP epitope that interacts with the MC1R has potential pharmacological applications in treating dysfunctions of skin pigmentation [33].
  • In contrast, the variant allele is nearly fixed in European populations, is associated with a substantial reduction in regional heterozygosity, and correlates with lighter skin pigmentation in admixed populations, suggesting a key role for the SLC24A5 gene in human pigmentation [34].

Analytical, diagnostic and therapeutic context of Skin Pigmentation

  • The peptide products of the pro-opiomelanocortin (POMC) gene have established roles in the control of physiological processes as diverse as adrenal steroidogenesis, skin pigmentation, analgesia and inflammation [35].
  • CONCLUSIONS: Lidocaine/prilocaine cream is a safe and effective topical anesthetic for reducing pain associated with venipuncture in individuals, regardless of skin pigmentation [36].
  • BACKGROUND: This study was designed to evaluate the effect of Paremyd, a combination of 1.0 percent hydroxyamphetamine hydrobromide and 0.25 percent tropicamide, on pupil size during binocular indirect ophthalmoscopy (BIO) upon 164 subjects of various skin pigmentation, iris color, and age [37].
  • Thirteen human volunteers selected to have a varying degree of epidermal skin pigmentation were laser treated on the inside of the brachium in six hexagonal areas; three areas with an argon laser (AL, 488, 514.5 nm) and three corresponding areas with a copper vapour laser (CVL, 578 nm) [38].


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  13. Histamine stimulates normal human melanocytes in vitro: one of the possible inducers of hyperpigmentation in urticaria pigmentosa. Tomita, Y., Maeda, K., Tagami, H. J. Dermatol. Sci. (1993) [Pubmed]
  14. Skeletal disorders associated with skin pigmentation: a role of melatonin? Abdel-Wanis, M.E., Kawahara, N. Med. Hypotheses (2003) [Pubmed]
  15. Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. Anderson, P.D., Huizing, M., Claassen, D.A., White, J., Gahl, W.A. Hum. Genet. (2003) [Pubmed]
  16. Genetic epidemiology of melanoma. Bataille, V. Eur. J. Cancer (2003) [Pubmed]
  17. Does alpha-MSH have a role in regulating skin pigmentation in humans? Thody, A.J., Graham, A. Pigment Cell Res. (1998) [Pubmed]
  18. Polymorphic G-protein-coupled receptors and associated diseases. Perez, D.M. Recept. Channels (2002) [Pubmed]
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  20. Stimulation of human melanocytes by vitamin D3 possibly mediates skin pigmentation after sun exposure. Tomita, Y., Torinuki, W., Tagami, H. J. Invest. Dermatol. (1988) [Pubmed]
  21. Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita. Ding, Y.G., Zhu, T.S., Jiang, W., Yang, Y., Bu, D.F., Tu, P., Zhu, X.J., Wang, B.X. J. Invest. Dermatol. (2004) [Pubmed]
  22. Hypohidrotic ectodermal dysplasia with hypothyroidism. Pabst, H.F., Groth, O., McCoy, E.E. J. Pediatr. (1981) [Pubmed]
  23. Thrombocytopenia: first symptom in a patient with dyskeratosis congenita. De Boeck, K., Degreef, H., Verwilghen, R., Corbeel, L., Casteels-Van Daele, M. Pediatrics (1981) [Pubmed]
  24. Sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation: a possible "new" form of ectodermal dysplasia. Winter, R.M., MacDermot, K.D., Hill, F.J. Am. J. Med. Genet. (1988) [Pubmed]
  25. Sunlight and vitamin D for bone health and prevention of autoimmune diseases, cancers, and cardiovascular disease. Holick, M.F. Am. J. Clin. Nutr. (2004) [Pubmed]
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  27. Inhibition of development of both androgen-dependent and androgen-independent pigment cells in scrotal skin dermis of the rat by antiandrogen treatment during fetal growth. Wilson, M.J. Endocrinology (1983) [Pubmed]
  28. Pulmonary infiltrates and skin pigmentation associated with sulfasalazine. Gabazza, E.C., Taguchi, O., Yamakami, T., Machishi, M., Ibata, H., Suzuki, S., Matsumoto, K., Kitagawa, T., Yamamoto, J. Am. J. Gastroenterol. (1992) [Pubmed]
  29. Cutaneous hyperpigmentation induced by amiodarone hydrochloride. Alinovi, A., Reverberi, C., Melissari, M., Gabrielli, M. J. Am. Acad. Dermatol. (1985) [Pubmed]
  30. Skin pigmentation, biogeographical ancestry and admixture mapping. Shriver, M.D., Parra, E.J., Dios, S., Bonilla, C., Norton, H., Jovel, C., Pfaff, C., Jones, C., Massac, A., Cameron, N., Baron, A., Jackson, T., Argyropoulos, G., Jin, L., Hoggart, C.J., McKeigue, P.M., Kittles, R.A. Hum. Genet. (2003) [Pubmed]
  31. Ethnic variation in tyrosinase and TYRP1 expression in photoexposed and photoprotected human skin. Alaluf, S., Barrett, K., Blount, M., Carter, N. Pigment Cell Res. (2003) [Pubmed]
  32. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit (PRKAR1A) in patients with the "complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas" (Carney complex). Stratakis, C.A. Ann. N. Y. Acad. Sci. (2002) [Pubmed]
  33. Bioactive motifs of agouti signal protein. Virador, V.M., Santis, C., Furumura, M., Kalbacher, H., Hearing, V.J. Exp. Cell Res. (2000) [Pubmed]
  34. SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans. Lamason, R.L., Mohideen, M.A., Mest, J.R., Wong, A.C., Norton, H.L., Aros, M.C., Jurynec, M.J., Mao, X., Humphreville, V.R., Humbert, J.E., Sinha, S., Moore, J.L., Jagadeeswaran, P., Zhao, W., Ning, G., Makalowska, I., McKeigue, P.M., O'donnell, D., Kittles, R., Parra, E.J., Mangini, N.J., Grunwald, D.J., Shriver, M.D., Canfield, V.A., Cheng, K.C. Science (2005) [Pubmed]
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  36. Evaluation of the analgesic efficacy of EMLA cream in volunteers with differing skin pigmentation undergoing venipuncture. Riendeau, L.A., Bennett, D., Black-Noller, G., Fan, L., Scavone, J.M. Regional anesthesia and pain medicine. (1999) [Pubmed]
  37. Pupillary dilation and funduscopy with 1.0% hydroxyamphetamine plus 0.25% tropicamide (Paremyd) versus tropicamide (0.5 or 1.0%) as a function of iris and skin pigmentation, and age. Cooper, J., Feldman, J.M., Jaanus, S.D., Appleman, W., Appel, S., Horn, D. Journal of the American Optometric Association. (1996) [Pubmed]
  38. Pigmentation dependent, short time skin reactions to copper vapour laser and argon laser treatment. Haedersdal, M., Wulf, H.C. Burns : journal of the International Society for Burn Injuries. (1994) [Pubmed]
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