Clinical patterns of pigmentary mosaicism - our experience (original) (raw)

Pigmentary mosaicism: a review of original literature and recommendations for future handling

Orphanet journal of rare diseases, 2018

Pigmentary mosaicism is a term that describes varied patterns of pigmentation in the skin caused by genetic heterogeneity of the skin cells. In a substantial number of cases, pigmentary mosaicism is observed alongside extracutaneous abnormalities typically involving the central nervous system and the musculoskeletal system. We have compiled information on previous cases of pigmentary mosaicism aiming to optimize the handling of patients with this condition. Our study is based on a database search in PubMed containing papers written in English, published between January 1985 and April 2017. The search yielded 174 relevant and original articles, detailing a total number of 651 patients. Forty-three percent of the patients exhibited hyperpigmentation, 50% exhibited hypopigmentation, and 7% exhibited a combination of hyperpigmentation and hypopigmentation. Fifty-six percent exhibited extracutaneous manifestations. The presence of extracutaneous manifestations in each subgroup varied: 32...

Macular pigment in retinal health and disease

International Journal of Retina and Vitreous, 2016

Lutein and zeaxanthin, two carotenoid pigments of the xanthophyll subclass, are present in high concentrations in the retina, especially in the macula. They work as a filter protecting the macula from blue light and also as a resident antioxidant and free radical scavenger to reduce oxidative stress-induced damage. Many observational and interventional studies have suggested that lutein and zeaxanthin may reduce the risk of various eye diseases, especially late forms of AMD. In vitro and in vivo studies indicate that they could protect various ocular cells against oxidative damage. Recent research has shown that in addition to traditional mechanisms, lutein and zeaxanthin can influence the viability and function of cells through various signal pathways or transcription factors: for instance, they can affect immune responses and inflammation, and have anti-angiogenic and anti-tumor properties. This review covers the basic aspects and results of recent studies regarding the effects of lutein, zeaxanthin and other carotenoids, such as meso-zeaxanthin, on the eye in different clinical and experimental models and the management of various ocular diseases using these molecules.