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PubMed1998

Complete sequence and polymorphism study of the human TYRP1 gene encoding tyrosinase-related protein 1.

The complete 24,667 nucleotide sequence spanning the human TYRP1 gene has been determined from the inserts of two overlapping lambda clones. A LINE-1 repeat element is immediately adjacent to and may demarcate the immediate 5' promoter region of the gene. A search for polymorphism within the seven TYRP1 coding exons has been performed by an RNase mismatch detection procedure. Analysis of the TYRP1 gene in 100 Caucasian individuals of varying hair color has found no amino acid sequence variation nor revealed any hemizygous mutant allele in the hypopigmented phenotype of two 9p- syndrome patients.

Base Sequence↗
PubMed2004

Familial aggregation of melanoma risks in a large population-based sample of melanoma cases.

OBJECTIVE: Melanoma has been shown in numerous studies to be associated with sun exposure, and with host phenotypic factors of genetic origin. In this study we use information from a large series of incident cases of melanoma from an international population-based study to examine the patterns of incidence of melanoma in the first-degree relatives of these cases. METHODS: A total of 2508 incident cases of melanoma provided information on basic demographic data and pigmentary characteristics, in addition to detailed information on family history of melanoma. These data were used to examine the incidence rates ratios of melanoma in the relatives of cases in relation to population rates, and also with respect to phenotypic characteristics of the probands that have been shown to be associated with melanoma: mole counts, hair color, eye color, and skin sensitivity to the sun. RESULTS: The incidence rates reflect the underlying patterns of incidence in the source populations, with generally higher rates in the Australian sample, low rates in Italy, and intermediate rates in the USA and Canada. Also, rates are higher in men than in women, except at very young ages. Phenotypic characteristics of the probands were only weakly associated with the observed rates in the relatives although there is a strong inverse association with age at diagnosis. Cumulative risk of melanoma rises to 6.9% (6.1%) at age 80 in male (female) first-degree relatives of cases, and to 10.8% (9.5%) in relatives of cases diagnosed before age 50. CONCLUSIONS: Relatives of cases diagnosed with melanoma are at considerable lifetime risk of the disease, especially if the case is diagnosed at a young age.

Adult↗
PubMed1996

Cigarette smoking and retinal carotenoids: implications for age-related macular degeneration.

The foveal region of the retina has a yellow pigmentation composed primarily of the carotenoids lutein and zeaxanthin. Past studies have shown that cigarette smoking depresses carotenoid concentrations in the blood. This is the first report on the effects of cigarette smoking on carotenoids in the retina. Macular pigment optical density (MP) was measured psychophysically by comparing foveal and parafoveal sensitivities to light of 460 and 550 nm. General dietary patterns, smoking frequency (cigaretts/day) and personal data were collected by questionnaire. Thirty-four smokers and 34 nonsmokers were compared. Subjects were matched with respect to age, sex, dietary patterns and overall pigmentation (i.e., eye, skin and hair color). The smoking group had a mean MP of 0.16 (SD = 0.12) compared to a mean MP of 0.34 (SD = 0.15) for nonsmokers (P < 0.0001). MP density and smoking frequency were inversely related (r = -0.498 P < 0.001) in a dose-response relationship. A variety of evidence suggests that MP protects the macula from actinic damage both passively (by screening potentially harmful short-wave light) and actively as an antioxidant (e.g., by quenching reactive oxygen species). If smoking causes a reduction in MP density, then smokers may be at risk. Epidemiologic data identifying smoking as a risk factor for the neovascular form of age-related macular degeneration are consistent with this hypothesis.

Adult↗
PubMed1991

Studies on three structurally related phenylenediamines with the mouse micronucleus assay system.

Three structurally related compounds, 4-chloro-o-phenylenediamine (COP), 4-nitro-o-phenylenediamine (NOP) and p-phenylenediamine dihydrochloride (PPD), are used in fur dyes, inks and hair coloring formulations. COP has been reported to be carcinogenic in both rats and mice. NOP and PPD are non-carcinogens, but have consistently tested positive in short-term in vitro genotoxicity assays. Studies were undertaken to evaluate their genotoxicity with the in vivo mouse bone-marrow micronucleus assay. Five CD-1 male mice per dose were injected i.p. with the compounds and sacrificed at intervals of 24, 48 and 72 h. 2000 cells were scored per animal to determine the frequency of micronucleated-polychromatic erythrocytes (MPCE). COP induced significant dose-related increases in MPCE over the 3 doses tested at each of the sampling intervals. The peak response occurred at 24 h. No response was observed in animals treated with PPD or NOP.

Animals↗
PubMedDate not supplied

The ABO blood grouping of a minute hair sample by the immunohistochemical technique.

The unlabeled antibody (PAP) immunoperoxidase technique was applied to the ABO blood grouping of human scalp hairs. Hair samples were subjected to longitudinal- or cross-sectioning, thus obtaining suitable samples for subsequent immunostaining. The immunostaining was carried out using rabbit anti-A and anti-B sera as the primary antibodies. With this technique, the group-specific staining which is revealed as a dark brown precipitate was clearly observed within the medullae of the hair shaft, and depending on the presence or absence of these precipitates, respective blood groups of unknown hair samples were determined. At the hair root, on the other hand, positive stainings were observed not only in medullary cells but also in some cortical cells of the keratogenous zone. From the present study, it can be safely said that this technique is of practical use for the ABO blood grouping from a minute (less than 3 mm) hair sample.

ABO Blood-Group System↗
PubMed2006

Follicular unit transplantation for male-pattern hair loss: Evaluation of 120 patients.

The main aim in surgical hair restoration is to restore hair, making the scalp look natural. Interviews with earlier patients who received hair transplants revealed that their complaints were - a straight anterior hairline that looked unnatural, and hair that looked like 'sprouted grass'. The use of follicular unit transplantation (FUT) technique, where hair roots are harvested under magnification, is becoming widespread. In this technique, hair roots are harvested into natural follicular units that contain 1-4 hair roots. In this article, we present our results related to hair transplantation by FUT technique, performed on 120 patients between the ages of 21 and 75 years with male-pattern hair loss. We made simple yet useful interventions to avoid the occurrence of the above-mentioned problems. Initially, drawings based on the middle line and the two temporal regression points were made for a natural-looking anterior hairline. Following this, irregular seeding was done instead of seeding in rows, to obtain a natural hairline. To avoid the 'sprouted grass' look, single hair roots were placed on the anterior hairline taking into consideration the direction of hair growth. However, the FUT technique is not adequate on its own for natural-looking hair restoration. Good planning and creation of an anterior hairline suited to the individual's forehead structure is fundamental for successful results. In addition, we believe that hair texture is very important in hair transplantation and additional care should be given particularly to patients with dark-coloured and hard hair.

Adult↗
PubMed2005

Melanocyte stem cell maintenance and hair graying.

Hair graying is an obvious sign of human aging, yet little was known about its causes. Two recent papers provide compelling evidence that hair graying is due to incomplete melanocyte stem cell maintenance and identify Pax3 and Mitf as key molecules that help regulate the balance between melanocyte stem cell maintenance and differentiation.

Aging↗
PubMed2006

Sunscreens and hair photoprotection.

Photoprotection as it pertains to hair is not a common topic addressed by the dermatologist. Hair is nonliving and requires no protection from ultraviolet (UV) radiation because carcinogenesis of the hair shaft itself is not possible. If hair proteins are altered by sun exposure, damaged hair can be removed and replaced by new growth. Thus, at first glance, the whole issue of photoprotection for the hair might seem irrelevant; however, patients frequently consult the dermatologist for advice on hair growth and appearance problems. Hair photoprotection is an important part of maintaining the cosmetic value of the hair shaft. This article focuses on the chemical effects of UV radiation on the hair shaft, hair photoaging, intrinsic hair UV photoprotective mechanisms, and the use of hair sunscreens. The whole science of hair and photoprotection is currently in its infancy and an area of focused research within the hair care product and salon industries.

Hair↗
PubMed2005

Costello syndrome showing moyamoya-like vasculopathy.

This report describes a patient with Costello syndrome associated with moyamoya-like vasculopathy. His clinical findings were sparse, thin, and light-colored hair, bilateral ptosis, low-set ears, depressed nasal bridge, bulbous nose, short neck, loose pigmented skin with deep palmar and plantar creases, bilateral cryptorchidism, and delays in growth and development. Brain magnetic resonance imaging and cerebral angiography revealed moyamoya-like vasculopathy. A skin biopsy from the extensor surface of the right thigh revealed shortening and rupture of elastic fibers. Electron microscopy indicated reduced depositions of elastin. Formation of a stable elastic fiber system may be impaired in patients with Costello syndrome, and brain magnetic resonance imaging and magnetic resonance angiography would be recommended for these patients.

Abnormalities, Multiple↗
PubMed2004

Risk factors for malignant melanoma in an Icelandic population sample.

OBJECTIVES: To describe the constitutional risk factors for malignant melanoma and exposure to sunlight in a population sample in Iceland. METHODS: Information on various risk factors for malignant melanoma was collected through mailed questionnaires sent to a random sample of the Icelandic population. The information collected was the first phase of a prospective study on malignant melanoma among aircrew members as compared to a population sample. RESULTS: The overall participation rate was about 50%. Seven percent of women and six percent of men had red hair color. Blue or green eye color was reported among 89% of women and 87% of men. Sixteen percent of women aged 20 to 39 had used sun beds more than 100 times during their lifetime, while the corresponding figure was 12% for men of the same age. Younger age groups had more sunny vacations than the older age groups. The frequency of sunburn differed in the groups with reported different skin types according to Fitzpatrick classification. CONCLUSION: The high prevalence of sun bed usage among young women is concurrent with the increased incidence of malignant melanoma among young women registered in the nationwide cancer registry. Young people have more often used sun beds and taken sunny vacation than the older, indicating a changed behavior in the population.

Adult↗
PubMed2002

The role of melanocortins in body weight regulation: opportunities for the treatment of obesity.

Five G-protein-coupled melanocortin receptors (MC(1)-MC(5)) are expressed in mammalian tissues. The melanocortin receptors support diverse physiological functions, including the regulation of hair color, adrenal function, energy homeostasis, feed efficiency, sebaceous gland lipid production and immune and sexual function. The melanocortins (adrenocorticotropic hormone (ACTH), alpha-melanocyte-stimulating hormone (alpha-MSH), beta-MSH and gamma-MSH) are agonist peptide ligands for the melanocortin receptors and these peptides are processed from the pre-prohormone proopiomelanocortin (POMC). Peptide antagonists for the melanocortin MC(1), MC(3) and MC(4) receptors include agouti-related protein (AgRP) and agouti. Diverse lines of evidence, including genetic and pharmacological data obtained in rodents and humans, support a role for the melanocortin MC(3) and MC(4) receptors in the regulation of energy homeostasis. Recent advances in the development of potent and selective peptide and non-peptide melanocortin receptor ligands are anticipated to help unravel the roles for the melanocortin receptors in humans and to accelerate the clinical use of small molecule melanocortin mimetics.

Animals↗
PubMed2002

The role of melanocortins in body weight regulation: opportunities for the treatment of obesity.

Five G-protein-coupled melanocortin receptors (MC(1)-MC(5)) are expressed in mammalian tissues. The melanocortin receptors support diverse physiological functions, including the regulation of hair color, adrenal function, energy homeostasis, feed efficiency, sebaceous gland lipid production and immune and sexual function. The melanocortins (adrenocorticotropic hormone (ACTH), alpha-melanocyte-stimulating hormone (alpha-MSH), beta-MSH and gamma-MSH) are agonist peptide ligands for the melanocortin receptors and these peptides are processed from the pre-prohormone proopiomelanocortin (POMC). Peptide antagonists for the melanocortin MC(1), MC(3) and MC(4) receptors include agouti-related protein (AgRP) and agouti. Diverse lines of evidence, including genetic and pharmacological data obtained in rodents and humans, support a role for the melanocortin MC(3) and MC(4) receptors in the regulation of energy homeostasis. Recent advances in the development of potent and selective peptide and non-peptide melanocortin receptor ligands are anticipated to help unravel the roles for the melanocortin receptors in humans and to accelerate the clinical use of small molecule melanocortin mimetics.

Animals↗
PubMed1999

Distribution of Mahogany/Attractin mRNA in the rat central nervous system.

The Mahogany/Attractin gene (Atrn) has been proposed as a downstream mediator of Agouti signaling because yellow hair color and obesity in lethal yellow (A(y)) mice are suppressed by the mahogany (Atrn(mg)) mutation. The present study examined the distribution of Atrn mRNA in the brain and spinal cord by in situ hybridization. Atrn mRNA was found widely distributed throughout the central nervous system, with high levels in regions of the olfactory system, some limbic structures, regions of the brainstem, cerebellum and spinal cord. In the hypothalamus, Atrn mRNA was found in specific nuclei including the suprachiasmatic nucleus, the supraoptic nucleus, the medial preoptic nucleus, the paraventricular hypothalamic nucleus, the ventromedial hypothalamic nucleus, and the arcuate nucleus. These results suggest a broad spectrum of physiological functions for the Atrn gene product.

Animals↗
PubMed1985

Brown oculocutaneous albinism. Clinical, ophthalmological, and biochemical characterization.

The clinical, ophthalmological, and biochemical characteristics of a 28-year-old black woman with brown oculocutaneous albinism were determined. Hair color was medium brown and skin color was light brown, and a faint tan developed with sun exposure. The irides were light brown in the central one-third, blue-gray in the peripheral two-thirds, and showed punctate and radial translucency. Visual acuity was 20/60 in the right eye and 20/100 in the left eye. There was a moderate pendular nystagmus, and previous surgeries had corrected an exotropia. The foveal reflex was muted, and the retinal pigment was reduced. Hairbulb tyrosinase activity was 1.75 pmoles/120 min/hairbulb, hairbulb glutathione content 0.83 nmoles/hairbulb, and urine excretion of 5-S-cysteinyldopa 174.9 ng/mg creatinine. Electron microscopy of hairbulb and skin melanocytes showed arrested melanosomal development. These findings suggest that there is a partial block in the distal eumelanin pathway in this form of albinism. The ophthalmological characteristics of six additional cases of this form of albinism are also presented.

Adult↗
PubMed2003

Segmented heterochromia in scalp hair.

Segmented heterochromia of scalp hair is characterized by the irregularly alternating segmentation of hair into dark and light bands and is known to be associated with iron deficiency anemia. The authors report the case of an 11-year-old boy with segmented heterochromia associated with iron deficiency anemia. After 11 months of iron replacement, the boy's segmented heterochromic hair recovered completely.

Anemia, Iron-Deficiency↗