Disease relevance of Skin Pigmentation

• A new C26 sterol, 22-trans-27-norcholesta-5,22-dien-3 beta-ol, was found in the urine of a 6-year-old girl, with a clinical diagnosis of congenital adrenal hyperplasia of the salt losing type, accompanied by symptoms of mixed sex anatomy and skin pigmentation [1].
• Impairment of delayed cellular hypersensitivity to dinitrochlorobenzene was more likely to occur with more intensive treatments and in patients with less skin pigmentation [2].
• Cytogenetic and microsatellite alterations in tumors from patients with the syndrome of myxomas, spotty skin pigmentation, and endocrine overactivity (Carney complex) [3].
• Thyroid gland abnormalities in patients with the syndrome of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas (Carney complex) [4].
• McCune-Albright syndrome (MAS) is a sporadic disorder characterized by the classic triad of polyostotic fibrous dysplasia, café-au-lait skin pigmentation, and peripheral precocious puberty [5].

Psychiatry related information on Skin Pigmentation

• Clinical features may be non-specific and include lethargy and malaise, or reflect target organ damage and present with abnormal liver tests, cirrhosis, diabetes mellitus, arthropathy, cardiomyopathy, skin pigmentation and gonadal failure [6].
• Other symptoms can include mental retardation, nail dystrophy, disturbances of skin pigmentation (perioral and periorbital hyperpigmentation, vitiligo, and perinevic leukoderma), and palmoplantar keratosis [7].

High impact information on Skin Pigmentation

• This same region also contains genes for two of the structurally related factors, for c-kit, a receptor for an as yet unidentified ligand, and for 'piebald trait', an inherited skin pigmentation disorder [8].
• We also found high concentrations of amiodarone (306 mg/kg wet weight) and desethylamiodarone (943 mg/kg wet weight) in abnormally pigmented ("blue") skin from patients with amiodarone-induced skin pigmentation [9].
• Alpha-melanocyte stimulating hormone (alpha-MSH), acting via its receptor MC1, has a key role in skin pigmentation and the melanizing response after exposure to UVR [10].
• Therefore, GRK2 and GRK6 seem to be key regulators of melanocortin 1 receptor signaling and may be important determinants of skin pigmentation [11].
• Historically, the most clearly defined roles of these peptides are in the control of adrenal steroidogenesis by corticotroph-derived ACTH and skin pigmentation by alphaMSH [12].

Chemical compound and disease context of Skin Pigmentation

• We propose that high concentrations of histamine and its imidazole metabolites continuously produced in the lesions of urticaria pigmentosa are probable causative factors of its characteristic skin pigmentation [13].
• Recent research works support that melatonin might play a role in bone development and several hypotheses link melatonin with some bone diseases associated with skin pigmentation [14].

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

• Stimulation of human melanocytes by vitamin D3 possibly mediates skin pigmentation after sun exposure [20].
• Dyskeratosis congenita (DKC) is a rare and fatal congenital syndrome characterized by the triad of reticular skin pigmentation, nail dystrophy and mucosal leukoplakia, and the predisposition to bone marrow failure and malignancies [21].
• Two brothers with hypohidrotic ectodermal dysplasia were found to have urticaria pigmentosa-like skin pigmentation with increased mast cells and melanin depositions in the dermis [22].
• This rare hereditary disease usually has the following progression: ectodermal dystrophy (reticular skin pigmentation, nail dystrophy, leukokeratosis of mucosal membranes), appearing in the first decade, followed in about 50% of these patients by a hematopoietic disorder resembling Fanconi's anemia, usually developing in the second or third decade [23].
• Sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation: a possible "new" form of ectodermal dysplasia [24].

Associations of Skin Pigmentation with chemical compounds

• Season, latitude, time of day, skin pigmentation, aging, sunscreen use, and glass all influence the cutaneous production of vitamin D3 [25].
• Sunlight, season, skin pigmentation, vitamin D, and 25-hydroxyvitamin D: integral components of the vitamin D endocrine system [26].
• The effect of prenatal treatment with the antiandrogen flutamide on the development of scrotal skin pigmentation and the male reproductive system was examined [27].
• Pulmonary infiltrates and skin pigmentation associated with sulfasalazine [28].
• A patient who developed a persistent blue-gray skin pigmentation of the light-exposed areas following long-term amiodarone hydrochloride administration is reported [29].

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].

References