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PubMed1978

Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism.

A family had the following manifestations of Waardenburg's syndrome (WS): prominent nasal root, white forelock, premature graying of the hair, freckled pigmentation of pale skin, hypoplastic heterochromia irides, heterochromia of the ocular fundi, congenital sensorineural hearing loss, and autosomal dominant heredity. This family differs from those previously reported in that none of its members showed dystopia of the inner canthi or lower puncta. In addition, four siblings had the combination of hyperopia-estropia-amblyopia, as well as ocular albinism, manifested by foveal hypoplasia and transilluminable irides. Observations on this family support prior suggestions of heterogeneity in WS.

Abnormalities, Multiple↗
PubMed1985

Spastic paraparesis, mental retardation, and cutaneous pigmentation disorder. A new syndrome.

Four siblings in a family with a highly consanguineous background presented with an unusual combination of spastic paraparesis, muscle wasting, microcephaly, mental retardation, skeletal deformities, and cutaneous manifestations, ie, hypopigmented and hyperpigmented lesions and graying of the hair. An extensive workup including electromyography, muscle biopsy, and chromosomal analysis was unrewarding. An autosomal recessive inheritance is probable. A similar entity was recently reported from israel. The possibility that this previously unrecognized condition represents a new syndrome is suggested.

Adolescent↗
PubMed1988

Variable expression in focal dermal hypoplasia. An example of differential X-chromosome inactivation.

We encountered three women from three generations of the same family with features of focal dermal hypoplasia (FDH). Two of the patients, the proposita and her mother, demonstrated severe manifestations, including skin, dental, skeletal, and visceral abnormalities. The proposita's grandmother, the first family member affected, had very mild expression, with aplasia cutis congenita and dental caries as the only features expressed. This family illustrates both the marked variability of expression and the proposed X-linked dominant mode of inheritance of FDH. We postulate that early embryologic random inactivation of the X chromosome bearing the mutant gene responsible for FDH is the cause of the variable expression.

Adolescent↗
PubMed1977

Green hair.

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Adolescent↗
PubMed1996

Determination of beta 2-agonists in hair by gas chromatography/mass spectrometry.

A method is described for the determination of the beta 2-agonists clenbuterol and salbutamol in hair. The method involves washing hair in sodium dodecyl hydrogensulphate solution, chemical digestion of the hair matrix in alkaline medium, solid-phase extraction, derivatization with methylboronic acid and analysis by gas chromatography/electron impact mass spectrometry in either the selected-ion monitoring or the scan mode. the effects of chemical digestion and of extraction on the recovery of the analytes were evaluated. Derivatization with methyl-boronic acid was compared with trimethylsilylation for GC/MS analysis of hair extracts, and was found to give mass spectra which showed more structural information with less chemical noise and better sensitivity. The proposed method was tested on real hair samples obtained from guinea pigs treated with growth-promoting doses of clenbuterol and salbutamol. Both compounds could be detected in hair of treated animals.

Adrenergic beta-Agonists↗
PubMed1998

Solar keratoses: a risk factor for melanoma but negative association with melanocytic naevi.

Solar keratoses have been associated with increased risk of squamous-cell and basal-cell carcinomas, but their association with melanoma is less clear. This study investigated solar keratoses as a risk factor for cutaneous melanoma in Australia, also associations between solar keratoses and other host factors associated with melanoma. A total-body naevus count was made of 258 melanoma cases and 281 controls recruited from New South Wales, Australia, and solar keratoses were counted on the left forearm. Solar elastosis was also assessed by clinical examination on the face and the side of the neck. Solar keratoses were a significant risk factor for melanoma in Australia. The presence of 10 or more solar keratoses on the left forearm (compared with none) was associated with an odds ratio of 4.7 (95% CI, 2.0-10.9). A highly significant association was found between number of solar keratoses and a past history of multiple basal-cell carcinomas in cases and controls respectively. Numbers of common and atypical naevi decreased significantly with age, while solar keratoses were more common in older individuals. Solar keratoses were found more commonly in men than women in cases and in controls (p < 0.0001). A negative association was found between numbers of common naevi and numbers of solar keratoses in cases and controls, and this remained significant after stratifying for age, gender and hair colour (p < 0.0001 and p < 0.0016 respectively). Solar keratoses were more common in males with melanoma on the head and neck as compared with melanoma on any other site. Solar keratoses and naevi were independently predictive of increased melanoma risk. The fact that these 2 phenotypes were found to be negatively associated suggests that susceptibility to melanoma may be expressed via 2 distinct cutaneous phenotypes which may be genetically determined.

Adolescent↗
PubMed1994

Embryonic germ cell lines and their derivation from mouse primordial germ cells.

When primordial germ cells of the mouse are cultured on feeder layers with the addition of the polypeptide signalling molecules leukaemia inhibitory factor, Steel factor and basic fibroblast growth factor they give rise to cells that resemble undifferentiated blastocyst-derived embryonic stem cells. These primordial germ cell-derived embryonic germ cells (EG cells) can be induced to differentiate extensively in culture and also form teratocarcinomas when injected into nude mice. Additionally, they contribute to chimeras when injected into host blastocysts. We have derived multiple EG cell lines from 8.5 days post coitum (dpc) embryos of C57BL/6 inbred mice. Four independent EG cell lines with normal male karyotypes have formed chimeras (up to 70% coat colour chimerism) when injected into BALB/c host blastocysts. Chimeric mice from all four cell lines are fertile, but only those from one line have transmitted coat colour markers through the germline. Studies have also been carried out to determine whether gonadal primordial germ cells can give rise to pluripotent EG cells. Germ cells from gonads of 15.5 dpc C57BL/6 embryos and newborn mice failed to produce EG cell lines. EG cell lines capable of forming teratocarcinomas and coat colour chimeras have been established from primordial germ cells of 12.5 dpc genital ridges. We are currently testing the genomic imprinting status of the insulin-like growth factor type 2 receptor gene (Igf2r) in our different EG cell lines.

Animals↗
PubMed1980

Osteopathia striata associated with familial dermopathy and white forelock: evidence for postnatal development of osteopathia striata.

Osteopathia striata and a macular, hyperpigmented dermopathy were found in a Caucasian woman and her two daughters. Sequential radiographs in one daughter showed that the bone lesions were not present during infancy but developed during early childhood. The skin lesions were not those most often associated with osteopathia striata, but appeared tgo be a unique dermatosis, which also included a hypopigmented forelock. A son had neither osseous nor ectodermal lesions. These abnormalities appear to represent a new syndrome, which is inherited with X-linked or autosomal dominant transmission.

Adult↗
PubMed1986

Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome.

In a clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome (PLWS) (23 males and 16 females ranging in age from 2 weeks to 39 years), an interstitial deletion of chromosome 15 (breakpoints q11 and q13) was identified in 21 cases and apparently normal chromosomes in the remainder. Studies of parental chromosome 15 variants showed that the del[15q] was paternal in origin, although chromosomes of both parents were normal. All chromosome deletions were de novo events. Possible causes for the chromosome deletion and the role of chromosome rearrangements in individuals with PLWS are discussed. Clinical characteristics of the deletion and nondeletion groups were recorded and compared with 124 individuals reported in the literature. Individuals with the chromosome deletion were found to have lighter hair, eye, and skin color, greater sun sensitivity, and higher intelligence scores than individuals with normal chromosomes. Correlation studies of metacarpophalangeal pattern profile variables and dermatoglyphic findings indicate apparent homogeneity of the deletion group and heterogeneity of individuals with PLWS and normal chromosomes.

Adolescent↗
PubMed1995

Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome.

We report on a macrosomic newborn girl with albinism, a black lock at the right temporo-occipital region, and retinal depigmentation. Bilateral deafness was confirmed by brainstem auditory-evoked potentials. In addition, the infant had a severe defect of intestinal innervation. Biopsy showed aganglionosis of the large intestine, and total absence of neurocytes and nerve fibers in the small intestine, indicating a total lack of sympathetic and parasympathetic innervation. The infant died of intestinal dysfunction at 5 weeks. She was the 14th child of consanguineous Kurdish parents. Four sibs of our patient had the same syndrome and died a few days after birth. The other 9 sibs are well, with an unremarkable phenotype. A syndrome of albinism, black lock, deafness, and a total lack of intestinal neural innervation has not yet been reported. It represents a new neural crest syndrome with autosomal-recessive inheritance.

Albinism↗
PubMed1978

Analysis of hair samples of mummies from Semma South (Sudanese Nubia).

Hair samples from 76 burials at Semna South (Sudanese Nubia) were examined using a variety of techniques. Electrophoresis and fluorescence microscopy indicated some oxidation of the cuticule and keratin protein had taken place. However, the cuticular structure and the lack of fluorescence of the cortex indicate that the low humidity and non-alkaline conditions preserved the physical and chemical properties of the hair well. Pigmentation, even allowing for oxidation of melanin, showed a higher proportion of lighter samples than is currently associated with the Nubian area. Hair form analysis showed medium diameter and scale count; the curling variables were intermediate between European and African samples. There was a high ratio of maximum to minimum curvature (a measure of irregularity), approached only by Melanesian samples. Meroitic and X-group burial types were not statistically significantly different (largely due to sample sizes), but the X-group, especially males, showed more African elements than the Meroitic in the curling variables. Principal components analysis showed the Semna sample to be significantly different from seven populations examined earlier.

Anthropology, Physical↗
PubMed1984

A study of body hair density and distribution in normal women.

The distribution and density of terminal hair growth have been studied in 19 different body regions in 100 normal women of fertile age and 25 normal postmenopausal women. In accordance with earlier investigations an age-dependent variation in hair growth pattern was observed. None of the women in either group had terminal hair growth on the cheek, and on the breast region hair was limited to a small circumareolar area. Whereas facial terminal hair growth appeared to be less common than that reported in earlier studies of women from other countries, the frequency of terminal hair in other regions was found to be significantly higher in the Norwegian women. No difference in hair growth pattern between blondes and brunettes could be detected.

Adolescent↗
PubMed1984

Body hair growth in women: normal or hirsute.

The distribution and density of terminal hair growth in 19 different body regions in 113 women of fertile age complaining of embarrassing hair growth (group A) are compared with the findings in 100 normal women of comparable age (group B). Apart from three regions the former group demonstrated significantly more frequent and heavier hair growth than the latter. A stepwise discriminant analysis showed that the best separation between the two groups could be obtained by assessing the hair growth in the lip, chin, and public region. With this set of variables, four women from group A were incorrectly classified as belonging to group B and one woman from group B was classified as belonging to group A. The serum concentration of testosterone was significantly higher and the serum concentration of TeBG significantly lower in group A than in group B (P less than 0.001). Menstrual pattern, body weight, and hereditary factors in group A vs. group B support the impression that the increased terminal hair growth found in group A is due to physiological factors. From the present data it can be concluded that appraisal of the facial and public terminal hair growth should in most cases be sufficient for separating possible hirsutism from normal hair growth in women.

Adolescent↗
PubMed2006

Skin and hair pigmentation variation in Island Melanesia.

Skin and hair pigmentation are two of the most easily visible examples of human phenotypic variation. Selection-based explanations for pigmentation variation in humans have focused on the relationship between melanin and ultraviolet radiation, which is largely dependent on latitude. In this study, skin and hair pigmentation were measured as the melanin (M) index, using narrow-band reflectance spectroscopy for 1,135 individuals from Island Melanesia. Overall, the results show remarkable pigmentation variation, given the small geographic region surveyed. This variation is discussed in terms of differences between males and females, among islands, and among neighborhoods within those islands. The relationship of pigmentation to age, latitude, and longitude is also examined. We found that male skin pigmentation was significantly darker than females in 5 of 6 islands examined. Hair pigmentation showed a negative, but weak, correlation with age, while skin pigmentation showed a positive, but also weak, correlation with age. Skin and hair pigmentation varied significantly between islands as well as between neighborhoods within those islands. Bougainvilleans showed significantly darker skin than individuals from any other island considered, and are darker than a previously described African-American population. These findings are discussed in relation to prevailing hypotheses about the role of natural selection in shaping pigmentation variation in the human species, as well as the role of demographic processes such as admixture and drift in Island Melanesia.

Adult↗
PubMed1984

Effects of genic substitution at the brown locus on the differentiation of epidermal melanocytes in newborn mouse skin.

In the dorsal epidermis of both C57BL/10J (black, BB) and C57BR/cdJ (brown, bb) mice, the number of melanocytes positive to the dopa reaction (melanocyte population) increases from birth to day 3 or 4, and then gradually decreases. However, the number of melanoblasts plus melanocytes positive to the combined dopa-premelanin reaction (melanoblast-melanocyte population) remains constant until day 3 or 4 and then decreases in the two strains. Despite the similarity of the developmental dynamics in both black and brown mice, there is a significant difference in the number of differentiated melanocytes. Melanocytes are more numerous and more dopa-reactive in brown mice than in black. The maximal density of the melanoblast-melanocyte population on day 3 or 4 does not differ in brown and black mice. Moreover, the maximal density of the melanocyte population in brown epidermis does not differ from that of the melanoblast-melanocyte population of both brown and black. These results indicate that b allele, when homozygous, enhances the differentiation of epidermal melanoblasts by inducing high tyrosinase activity.

Alleles↗
PubMed2005

Analysis of structural change in keratin fibers resulting from chemical treatments using Raman spectroscopy.

In order to investigate the influence of chemical treatments (reduction, heating, and oxidation) on keratin fibers, the structure of virgin white human hair resulting from a permanent hair straightening process at various depths of cross-sectional samples was directly analyzed without isolating the cuticle and cortex, using Raman spectroscopy. The band shape of the cuticle was different from that of the cortex, and the cuticle had a more amorphous structure, compared with the cortex. The S-S band intensity existing in the hair surface remarkably decreased, while the S-S band intensity in the hair center was not changed by performing the reduction process. In the case of heating the keratin fibers after the reduction process, this tendency was unchanged. On the other hand, the amide III (unordered) band intensity in the cortex region increased, indicating that proteins existing throughout the cortex region caused a change to the random coil form. Moreover, approximately 95% of the disconnected -SS- groups were clearly reconnected by performing the oxidation process after heating (the degree of reconnection of -SS- groups was about 90%, in the case of oxidizing after reduction). From these experiments, we concluded that the heat treatment process in the permanent hair straightening treatment caused the randomization of proteins existing throughout the cortex region, thereby contributing to the acceleration of the reconnection of -SS- groups during the oxidation process.

Disulfides↗