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A gene for pili annulati maps to the telomeric region of chromosome 12q.

Pili annulati (PA) is a rare hair shaft disorder characterized by discrete banding of hairs. We studied two families with PA in which the disorder segregated in an autosomal dominant fashion. All family members were clinically examined and hair samples were examined under the light microscope. In family G, of 19 individuals examined, ten were affected, over three generations. In family B, there were three affected individuals of seven examined over three generations. A genome-wide scan of family G revealed a maximum logarithm of odds (LOD) of linkage score of 3.89 at marker D12S1723 at the telomeric region of chromosome 12q. From one critical recombinant in family G, the locus was narrowed down to a 9.2 cM region between D12S367 and the end of chromosome 12q. In family B linkage at the telomeric region of chromosome 12q also revealed a maximum LOD score of 0.89 at marker D12S1723. A combined LOD score, assuming no locus heterogeneity between the families was 4.78. Frizzled 10, which is located within the region, was sequenced but we were unable to detect a mutation causing PA. This study, for the first time, identifies a genetic locus for PA.

Chromosome Mapping↗

Influence of prostaglandin F2alpha and its analogues on hair regrowth and follicular melanogenesis in a murine model.

Latanoprost and isopropyl unoprostone, which are analogues of prostaglandin F2alpha (PGF2alpha), are promising drugs for the reduction of intra-ocular pressure. However, they have been reported to have side effects, including hypertrichosis and hyperpigmentation of the eyelashes and periocular skin, and occasionally poliosis. In order to investigate these effects further, PGF2alpha, latanoprost and isopropyl unoprostone were applied to the dorsal skin of 7-week-old C57BL/6 mice, and hair length was measured during the treatment. The three molecules all showed stimulatory effects on the murine hair follicles and the follicular melanocytes in both the telogen and anagen stages, and stimulated conversion from the telogen to the anagen phase. PGE2 is known to act synergistically with PGF2alpha, and hence the influence of PGE2 was also examined. PGE2 did not induce distinct telogen-to-anagen conversion, but showed moderate growth stimulatory effects on early anagen hair follicles. In addition, we observed a case of hypertrichosis and trichomegaly with an excess of melanogenesis, leading to the emergence of white hair, suggesting that poliosis can occur as a side effect of eye treatment with solutions of PGF2alpha analogues. The stimulatory effects of PGF2alpha and PGE2 on hair growth have been discussed with regard to the role of protein kinase C and mast cells.

Animals↗

Beta-endorphin: the forgotten hair follicle melanotropin.

The proopiomelanocortin (POMC) gene and protein are expressed principally in the pituitary and brain (e.g., hypothalamus). The POMC gene, protein, and derived peptides, however, can also be detected in the skin. It appears that POMC can also be processed in the skin, a tissue that also expresses the prohormone convertases PC1 and PC2 and 7B2 protein. All POMC peptides may be produced in the skin epidermis, dermis, and adnexa by epithelial cells, melanocytes, and mesenchymal cells (e.g., immune cells, fibroblasts, and endothelial cells), and can also be released from cutaneous sensory nerve endings (cf. Slominski et al, 2004).

Adult↗

The long term effect of repeated pluckings on the function of the mouse vibrissal follicles.

Single mouse vibrissae were plucked repeatedly at the same time of the cycle (10--15 days after eruption) for ten successive cycles from eight individual follicles. After three pluckings the first grey whisker appeared, after six pluckings all were grey. Two follicles stopped producing whiskers after seven pluckings and another two after the 8th. Henceforth only 50% of the follicles continued producing whiskers until the end of the experiment. All the follicles which ceased to produce whiskers had a keratogenous cyst occupying most of the follicle in direct contact with the dermal papilla. In all cases the isolated dermal papilla was condensed and rounded in shape. Both loss of pigment and cyst formation could be due to the mechanical damage in the follicle caused by repeated plucking.

Animals↗

The in vivo melanocytotoxicity and depigmenting potency of N-2,4-acetoxyphenyl thioethyl acetamide in the skin and hair.

It has been shown previously that N-acetyl-4-S-cysteaminylphenol (N-Ac-4-S-CAP) is a tyrosinase substrate and a potent depigmenting agent of dark skin and black hair. The present study evaluated the depigmenting potency of an acetyl derivative of N-Ac-4-S-CAP, N-2,4-acetoxyphenyl thioethyl acetamide (NAP-TEA) in the skin and hair. We tested for (i) in vitro metabolites in the skin after topical application, and (ii) in vivo depigmenting potency in the skin and hair. We found that NAP-TEA was stable in water, but was converted to N-Ac-4-S-CAP after topical application to human skin. Therefore, although NAP-TEA was not a tyrosinase substrate, it could react with tyrosinase after being converted to N-Ac-4-S-CAP by O-deacetylation in vivo. NAP-TEA produced marked depigmentation of dark skin (Yucatan pig) after daily topical application. When given by intraperitoneal injection, it resulted in complete loss of hair colour (white) grown at the epilated site in adult C57 black mice after daily administration for 10 days, and incomplete loss of coat colour (silver grey) in newborn C57 black mice after a single administration. The depigmentation of the skin and hair was reversible. Split-dopa preparation and electron microscopy indicated that this depigmentation is primarily related to (i) a marked decrease in the number of functioning melanocytes and melanized melanosomes, (ii) a decrease in the number of melanosomes transferred to keratinocytes, and (iii) selective degeneration/inactivation of melanocytes, and deposition of melanin-like material in the Golgi cisternae, coated vesicles and melanosomes, where tyrosinase is reported to be located. We propose the NAP-TEA is converted in vivo to N-Ac-4-S-CAP which, via interaction with tyrosinase, causes reversible depigmentation of the skin and hair.

Acetamides↗

Cytokeratin expression in pili annulati hair follicles.

Pili annulati is a rare autosomal inherited hair shaft abnormality of unknown pathogenesis in which clinical examination reveals alternating light and dark bands leading to a shiny appearance of the hair due to cavities within the cortex of the hair shaft. This is the first investigation of the proposed cytokeratin defect in pili annulati hair follicles. Four cryopreserved pili annulati and four control scalp specimens were analysed using immunohistochemistry for different 'hard' trichocytic and 'soft' epithelial cytokeratins including K1, K6, K10, K14, K16, K17, K18, K19, Ha1 and Hb1. There was no difference in staining intensity and quality of staining pattern seen in pili annulati and control scalp specimens. These results suggest that pili annulati is not caused by a defect of the cytokeratins investigated in this study.

Adult↗

Markers and relative risk in a German population for developing malignant melanoma.

The relationship between cutaneous malignant melanoma (MM) and possible risk factors was assessed in a case-controlled study. Two hundred patients and 200 non-melanoma controls of German origin matched for age and sex were interviewed and examined for pigmented moles and pigmentation characteristics. In patients with MM significantly more melanocytic nevi greater than or equal to 2 mm (MCN) were found (mean, 53 MCN) compared to control cases (mean, 18 MCN). For persons with greater than 60 MCN the relative risk (RR) for developing MM increased 15 times compared to less than or equal to 10 MCN. Additional independent markers for an increased risk were presence of atypical MCN (RR = 7 vs. none) found in 45% of patients and in 5% of the control group, moderate to large numbers of actinic lentigines (RR = 6.2 vs. none), and lack of tanning as well as a tendency to sunburn (skin type I; RR = 2.2 vs skin type IV) No significant correlation was found between the relative risk for MM and hair color, eye color, duration of free time sun exposure and number of sunburns. Individuals with permanent outdoor profession and sun exposure, however, showed a clearly increased relative risk for developing MM.

Age Factors↗

Prevalence and awareness of melasma during pregnancy.

BACKGROUND: Melasma is an acquired hypermelanosis of the face. There is little information on its prevalence during pregnancy in Iran. Objective To determine the prevalence and awareness of melasma during pregnancy at the Shahed University Hospitals of Tehran, Iran. METHODS: A cross-sectional study was carried out by clinical examination and questionnaire on 400 pregnant women. RESULTS: The prevalence of melasma was 15.8%[95% confidence interval (CI) 12.3-19.4]. Malar pattern was seen in 65.9% of cases, whereas 33.8% of the patients had a centrofacial pattern. No case with a mandibular pattern was found. Positive family history of melasma was present in 54.7% of the cases. There was a statistically significant relation between melasma and ethnicity, phototype and grade of parity. However, no significant relation was observed between melasma and use of sunscreens, history of thyroid or liver disorders, trimester of pregnancy or phenotype (eye and hair color). 11.3% of the patients declared that they have developed melasma after using OCP Oral Contraception. Patients had little awareness of the etiology of melasma. In fact, 68.8% of the patients had no knowledge of its etiology. The effective factors or etiologies for melasma were stated as: 14.5% pregnancy, 9.8% sun exposure, 4.9% liver disorders, 4.9% nutrition and 1.6% sex of newborn. CONCLUSIONS: Our study confirms that melasma is common among pregnant women in Tehran, Iran. They had a low level of awareness of the etiology of melasma. There is a need for educational programs on the etiology and prevention of melasma in Iranian women.

Adolescent↗

A clinical study of hair removal using the long-pulsed ruby laser.

BACKGROUND: Laser hair removal is rapidly becoming a widely used modality. Clinical studies are needed to assess these hair removal systems. The long-pulsed ruby laser is one such modality for the removal of unwanted hair. OBJECTIVES: To evaluate the efficacy of the long-pulsed ruby laser (694 nm, 3-msec pulsewidth, 7- or 10-mm spot size) in removing unwanted hair, and to provide treatment guidelines for the proper utilization of this laser system. METHODS: Forty-eight areas of unwanted facial and body hair from 25 patients with blonde, brown, or black hair were treated with the long-pulsed ruby laser at fluences between 10 and 40 J/cm2. Hair regrowth was measured at 4 weeks after the first treatment, 4 weeks after the second treatment, 4 weeks after the third treatment, and 16 weeks after the third treatment by counting the number of terminal hairs compared with baseline pretreatment values. All complications and treatment outcomes were documented. RESULTS: The mean percent of regrowth after the first treatment was 65.5%, 41% after the second treatment, and 34% after the third treatment. Overall, regardless of skin type or targeted body region, patients who underwent three treatment sessions demonstrated an average 35% regrowth in terminal hair count compared with baseline pretreatment values 6 months after initial therapy. CONCLUSION: Long-pulsed ruby laser treatment resulted in significant hair growth delay in most cases. Repeated laser treatments produced an increased number of vellus hairs, an increase in growth delay, and a decreased percentage of hair regrowth.

Abdomen↗

Nevoid hypertrichosis: multiple patches associated with premature graying of lesional hair.

A 23-month-old Caucasian girl had congenital circumscribed areas of deeply pigmented terminal hairs that gradually lost their pigment over the next two years. Physical examination revealed no other abnormalities. Histologic examination demonstrated terminal hair in otherwise normal skin consistent with nevoid hypertrichosis. The clinical and histologic characteristics of nevoid hypertrichosis are compared with other types of hypertrichotic patches.

Female↗

Cutaneous melanoma: family screening and genetic testing.

The incidence of cutaneous melanoma (CM) has been steadily increasing in recent decades. Ultraviolet radiation (UVR) exposure, in the form of intermittent heavy exposure and severe sunburns in childhood, is believed to be the most important environmental contribution to CM risk. Genetic determinants also modulate CM risk, probably to a greater extent than environmental exposure. Certain heritable traits such as prominent numbers of common and atypical melanocytic nevi, skin type, dense UVR-induced freckling, and hair color are all known to be associated with increased CM risk. Very rarely, a heritable mutation in a high-risk gene renders the susceptible individual at extreme risk for CM. Families may carry one or more of the other high-risk phenotypic traits leading to uncertainty about how to quantify CM risk and provide management recommendations. Commercial genetic testing for the known high-risk inherited genetic mutations is available but is only relevant for those rare families likely to be carrying identifiable mutations. CM screening and risk intervention programs are being established internationally for families at markedly increased risk. Algorithms based on the level of risk are proposed.

Algorithms↗