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An ultrastructural study of melanocytes and melanosomes in the skin and hair bulbs of rufous albinos.

We have examined hair bulb and skin melanocytes of rufous albinos from Southern Africa to further characterize this form of albinism. In the skin melanocytes we find both eumelanosomes and pheomelanosomes at various stages of melanization and, in addition, there appeared to be many aberrant incompletely melanized melanosomes. On average, rufous melanosomes are 30% smaller than normal black skin melanosomes. In the keratinocytes, the melanosomes are packaged into distinct aggregations, whereas in normal black skin, they occur singly. We suggest that the reddish skin color of these albinos is a consequence of an increase in the pheomelanin synthesis resulting in a raised pheomelanin/eumelanin ratio and that the aggregation of melanosomes results in a skin color slightly lighter than normal. In hair bulb melanocytes, only eumelanosomes were seen and these were mostly incompletely melanized. These findings correlate with our visual observations that the hair color of Southern African albinos is very pale (light brown or ginger). Based on our observations, we speculate on the possible cause of rufous albinism.

Albinism, Oculocutaneous↗

[Ethnic variations of scalp hair].

There has been no polytypical variation in human hairforms for at least the last 10,000 years. In view of the wide variety of hair forms, it must be assumed that biological adaptation has occurred. Several features of the scalp hair, such as form, color, thickness, density, maximal length, tensile strength, etc. are clearly genetically determined. When dealing with diseases of the hair, it may be useful for the dermatologist to distinguish between "hair" and "hair".

Ethnicity↗

[Structure of hair on the head and other parts fo body in Latin Americans].

The structure of hairs from the head, chest, armpits, and pubis of residents of Latin America (Bolivia, Salvador, Panama, Ecuador, Chile, Nicaragua, Venezuela, Peru, Brasil, and Mexico) has been studied. New data on macro- and microscopic characteristics of hairs of the population of the above countries were obtained (color, shape, length, thickness of hair; number of cuticle lines; characteristics of hair layers, shapes of transverse sections, etc.).

Adult↗

Cutaneous factors related to the risk of malignant melanoma.

In a case-control study, 287 women with malignant melanoma were compared with 574 age-matched controls. Red hair colour at age 5 years was associated with a tripling of risk [relative risk (RR) = 3.0], blonde hair with a 60% increase (RR = 1.6) and fair skin with a doubling (RR = 2.1). Women with melanoma also reported that they tended to burn (RR = 1.4) and to freckle (RR = 1.9) after exposure to sunlight. Since fair skin, red hair, and the tendency to burn or freckle after exposure to sunlight all cluster in the same individuals, the extent to which each of these factors had an independent influence on susceptibility to melanoma was investigated. Hair colour, especially red hair, proved to be the major determinant, followed by skin colour. The reporting of above average numbers of naevi on the body was as strong a predictor of melanoma as was red hair colour (RR = 3.4). A history of psoriasis was also more common in cases than controls (RR = 3.0) as was a history of vitiligo (RR = 1.8). A history of acne appeared to be protective (RR = 0.4) as did a history suggestive of chloasma (RR = 0.6) and premature greying of the hair (RR = 0.6). These relationships were irrespective of hair and skin colour.

Adolescent↗

Melanocortin receptors, red hair, and skin cancer.

Cutaneous pigmentation is a major determinant of the cutaneous response to ultraviolet radiation, and consequently of the risk of developing skin cancer. Over the past 10 years, several genes involved in melanogenesis have been identified, including the melanocortin 1 receptor gene. Recent work on the melanocortin 1 receptor suggests that it is a key player in determining whether eumelanin or pheomelanin is predominantly produced both in vitro and in vivo. In the mouse, variants of this receptor, which differ in their ability to activate adenylyl cyclase, are associated with different coat colors. In humans, melanocortin 1 receptor variants are associated with red hair and fair skin, and work in progress from our laboratory suggests that certain melanocortin 1 receptor variants may preferentially be associated with hair color rather than skin type. In addition, melanocortin 1 receptor variants are a risk factor, possibly independent of skin type, for melanoma susceptibility.

Animals↗

Pigmented tumors of the skin.

Based on a personal series of red, brown, black, and blue tumors of the skin, the various living gross pathological features are compared. In general good signs are tumors with round or oval shapes, no ulceration, of all one color and containing hair. Bad signs are notched or linear borders, ulceration, or variation in color.

Humans↗

[Mutant gene expression in mouse aggregation chimeras. 8. The effect of the white gene on coat pigmentation].

Aggregation of mouse embryos produced 11 chimaeras Miwh/+C/C----+/+c/c and 8 chimaeras +/+C/C----+/+c/c (control). Chimaerism was detected by mosaicism of coat retinal pigment epithelium and by electrophoretic pattern of glucose phosphate isomerase. All chimaeras showed a common pattern of pigmented and unpigmented hair regions that alternated as stripes of different length and width and extended from spine in lateral-ventral direction. However, white coat color predominated in Miwh/+C/C----+/+c/c chimaeras due to a higher proportion of unpigmented zones as well as to weakening of hair color in pigmented areas. Besides, distal regions of limbs were always unpigmented in Miwh/+C/C----+/+c/c chimaeras and completely or partially pigmented in +/+C/C----+/+c/c chimaeras. Pigmented hair regions are often located on the ventral trunk surface where the Miwh/+ heterozygotes usually had an unpigmented spot. The examination of hairs, taken from the same regions of gray coloration, revealed the presence of pigmented, unpigmented and mosaic hairs. The proportion of unpigmented hairs was much higher in Miwh/+C/C----+/+c/c chimaeras than in +/+C/C----+/+c/c chimaeras. The data obtained indicate that a single Miwh gene dose reduced proliferative activity of melanoblasts which resulted in weakening of coat pigmentation.

Alleles↗

Tyrosinase and the regulation of coat color changes in C3H-HeAvy mice.

Hair follicular tyrosinase activity was measured during hair growth in neonatal, pubertal, and adult C3H-HeAvy mice that show differences in coat color as a result of changes in the synthesis of eumelanin and pheomelanin. Tyrosinase activity increased during hair growth in all mice but higher levels were found at puberty, when the mice grow a dark, eumelanin coat of hair, than during early and adult life, when the hair follicular melanocytes produce mainly pheomelanin. This suggests that tyrosinase is more important for the synthesis of eumelanin than that of pheomelanin. The increased tyrosinase activity associated with eumelanogenesis in the pubertal mice could not be explained by enhanced transcription of the tyrosinase gene or enzyme synthesis and appeared to be the result of a post-translational activation. Such an activation of tyrosinase was lacking in the neonatal and adult mice; in the latter this was accompanied by a reduction in the glycosylation of tyrosinase and the proportion of enzyme associated with the melanosomal fraction. Our findings suggest that post-translational mechanisms are important control points in the regulation of tyrosinase and that differences in their level of activation are responsible for determining the patterns of melanogenesis in the C3H-HeAvy mice, but it is still not clear how these mechanisms are regulated. Although cyclic AMP increased tyrosinase synthesis it had no post-translation activating effect. The neonatal mice, unlike their pubertal and adult counterparts, also lacked dopachrome converting activity and TRP tyrosinase-related protein-1 expression.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗

Malignant melanoma: aetiological importance of individual pigmentation and sun exposure.

A case-control study of cutaneous malignant melanoma (CMM) was based on 523 incident cases and 505 age- and sex-matched controls selected from the general population. The purpose was to investigate the relative risk of developing CMM associated with different sun habits and indicators of pigmentation, such as skin type, eye colour and hair colour. Compared to people with black hair, blonde subjects had a relative risk of 74.4 (95% confidence interval, 45.8-120.8). Associations with skin type and eye colour were considerably weaker. Relative risks of about 1.5-2.5 were found for certain sun habits. The results suggest that in a population of Caucasian origin with a predominantly fair complexion, pigmentary status characterized by hair colour is a far more important aetiological factor than sun habits.

Eye Color↗

Red-eyed dilution (rd), a novel coat-color mutant gene in the musk shrew (Suncus murinus, Insectivora).

A novel coat-color mutant was found in the musk shrew (Suncus murinus). Mutant shrews were characterized by light-gray coat, pinkish skin and red eyes. Mating experiment demonstrated that the mutant character was controlled by a single autosomal recessive gene. The gene could be traced back to at least four heterozygous carriers captured in Naha city, Okinawa in 1983. The name, red-eyed dilution, was proposed for this mutant character with the gene symbol rd. Linkage analysis proved no close relationship of the rd locus with the cr (cream coat color) and ch (curly hair) loci. The red-eyed dilution shrews (+/+, rd/rd) could easily be distinguished from the cream coat shrews with dark-red eyes (cr/cr, +/+) and the double homozygotes exhibiting light-cream coat with pink eyes (cr/cr, rd/rd). The rd gene has been maintained in the OKI line about at 75% of its frequency in every generation. We have started to develop a new line triple-homozygous for the cr, ch and rd genes.

Animals↗

Oculocutaneous albinoidism as a manifestation of reduced neural crest derivatives in the Prader-Willi syndrome.

Nine patients with Prader-Willi syndrome (five female and four male; one Oriental and eight white), all of whom had interstitial deletions of the proximal long arm of one chromosome 15 (q11-q13) were found to have decreased tyrosinase activity in isolated hair bulbs. As infants, all patients had light hair and skin coloring, both of which darkened with age. Light and electron microscopic analysis of skin and hair bulbs disclosed a reduced number of melanocytes in the basal epidermis and hair bulbs. Each patient demonstrated decreased pigmentation of the iris stroma, which was accentuated peripherally and manifested clinically as iris translucency. There was no foveal hypoplasia, nystagmus, or photophobia, and ocular function was normal. Oculocutaneous albinoidism is thus a component of del(15q) Prader-Willi syndrome with reduction of melanocytes of neural crest origin (skin, hair, and iris stroma) and retention of normal retinal and iris pigment epithelia of neuroectodermal origin.

Adolescent↗

Pigmentation and skin reaction to sun as risk factors for cutaneous melanoma: Western Canada Melanoma Study.

Between 1 April 1979 and 31 March 1981, 904 residents of the four western provinces of Canada (population 6.5 million), were diagnosed as suffering from primary cutaneous malignant melanoma. Of 801 patients aged 20-79 years, 665 (83%) were interviewed along with control subjects chosen at random from the general population and matched for age, sex, and province. After exclusion of 70 subjects with lentigo maligna or acral lentiginous melanoma, comparisons of the 595 case-control pairs showed that light hair, skin, and eye colour, a history of heavy freckling in adolescence, and a tendency to burn readily and tan poorly in the sun were significant risk factors for melanoma. The strongest primary associations were with blond hair (relative risk 7.1 compared with black hair), light colour of unexposed skin (relative risk 2.4), and severe freckling (relative risk 2.1). These associations were independent of ethnic origin and of recorded amount of exposure to the sun and were somewhat stronger for superficial spreading than for nodular melanoma. This study is the largest and most detailed of an incident series of melanomas to be published to date. The results were consistent with other studies reporting associations between melanoma and poor tanning ability, a tendency to burn easily, and a history of sunburn and showed that light hair colour was the strongest risk factor for the disease.

Adult↗

[Various anthropologic characteristics of patients with myasthenia gravis].

The anthropologic examination comprised: somatic measurements, cephalic measurements, determination of the pigmentation of the eyes and hair of women with myasthenia. The studied group was living in the towns of Lower Silesia and it included 47 myasthenic women and 67 healthy ones aged from 24 to 45 years. In 36 patients the HLA antigens were determined. The examination showed significant differences in the proportions of the body and head and in the pigmentation of eyes and hair between both these groups. The haplotypes HLA-B8, HLA-DR3 and HLA-A1 were significantly more frequent in the group of patients.

Adult↗