Oculocutaneous albinism (OCA) is an inherited disorder affecting the visual system and skin pigmentation. Our aim was to evaluate genetic clinical heterogeneity in a cohort of Slovenian paediatric patients with clinically suspected OCA using advanced molecular-genetics approach. In as much 20 out 25 patients, variants explaining their phenotype were identified. The great majority (15/25) had TY...

Introduction: Ricket is a disorder of developing bones. It secondary to the mineralization defect at growth plate matrix. In industrialization countries, elimination nutritional rickets or vitamin D deficiency has been done by prophylactic means. under developed countries Asia,it remains major health problem. There are lot factors which take part in synthesis D. These include sun exposure, pigm...

introduction: it has been shown that low levels of pigmentation increase susceptibility to noise-induced hearing loss in humans. for this reason, white populations develop more pronounced noise- induced hearing loss in comparison to black populations. similarly, blue-eyed individuals exhibit greater temporary threshold shift than brown-eyed subjects; still, no strong correlation has been verifi...

BACKGROUND The ABCD (Asymmetry, Border, Color, and Dimension) criteria represent a commonly used clinical guide for the diagnosis of early melanoma. The authors revised these criteria in the light of objective measurements of the features of pigmented skin lesions obtained by telespectrophotometric analysis (TS) in the visible and near-infrared wavelengths. METHODS This study involves a conse...

BACKGROUND AND OBJECTIVE Cutaneous brown discolorations in the area of injection can be a cosmetically bothersome side effect from a parenteral iron treatment, and have not responded to an effective therapy until now. STUDY DESIGN/PATIENTS AND METHODS We report retrospectively on five patients who were treated with the Q-switched ruby and/or Nd:YAG laser for circumscripted siderosis after int...

Drosophila polymorpha is a widespread species that exhibits abdominal pigmentation variation throughout its range. To gain insight into this variation we combined phenotypic and genotypic data to test a series of nested hypotheses. First, we tested the null hypothesis that geographic variation in pigmentation is due to neutral factors. We used nested clade analysis to examine the distribution o...

The significance of human cutaneous pigmentation lies in its protective role against sun-induced DNA damage and photocarcinogenesis. Fair skin and red hair are characterized by a low eumelanin to pheomelanin ratio, and have been associated with increased risk of skin cancer. Cutaneous pigmentation is a complex genetic trait, with more than 120 genes involved in its regulation, among which the m...

In soybean seeds, numerous variations in colors and pigmentation patterns exist, most of which are observed in the seed coat. Patterns of seed coat pigmentation are determined by four alleles (I, i(i), i(k) and i) of the classically defined I locus, which controls the spatial distribution of anthocyanins and proanthocyanidins in the seed coat. Most commercial soybean cultivars produce yellow se...

Abnormalities in skin pigmentation can produce disorders such as albinism or melasma. There is a research need to discover novel compounds that safely and effectively regulate pigmentation. To identify novel modulators of pigmentation, we attempted to purify compounds from a bioactive fraction of the Korean medicinal plant Artemisia capillaris Thunberg. The novel compound isofraxidin 7-O-(6'-O-...

BACKGROUND/PURPOSE Many differences in color, shape and dimension exist between different moles even in the same individual. Major differences might be accounted for anatomical location, genetic factors and by environmental factors, mainly sunlight exposure. Therefore, it would be of great value, when evaluating skin lesions, to take into account the degree of intra- and inter-variability of se...