Albinism in Nigeria. A clinical and social study
A study of 1000 Nigerian albinos, all of Negro stock, showed various types of albinism with their different modes of transmission--oculocutaneous, ocular and cutaneous. The much higher incidence among the more settled communities in the south, compared with the more nomadic communities in the north, may be related to greater inbreeding tendencies in the south. The sun and society are hostile to the albinos. Under the tropical sunshine, their melanin-deficient skin develops wrinkles, lentigines, actinic keratoses and epitheliomata from which they may die in early adult life or in middle age. Myopia and other ocular defects retard the progress of many albinos in school and they eventually drop out to seek disastrous menial outdoor occupations. Registering albinos early in life, assuring their families that albino defects are confined to the skin and eyes, advising on protective clothing and sun-screening agents, correcting myopia, assisting with indooor occupations, and early treatment of actinic keratoses and skin cancer should help many albinos to attain social acceptance and a ripe old age.
Available from: PubMed Central
- "OCA-1 is the most common subtype found in Caucasians and accounts for about 50% of cases worldwide [7, 14]. OCA-2, or brown OCA (BOCA), accounts for 30% of cases worldwide and is most common in Africa, where it is estimated to affect one in 10,000 and as many as one in 1,000 in certain populations [15, 16]. This is primarily due to an OCA2 found deletion seen at high frequencies within this population [16–19]. "
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ABSTRACT: Oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by either complete lack of or a reduction of melanin biosynthesis in the melanocytes. The OCA1A is the most severe type with a complete lack of melanin production throughout life, while the milder forms OCA1B, OCA2, OCA3, and OCA4 show some pigment accumulation over time. Mutations in TYR, OCA2, TYRP1, and SLC45A2 are mainly responsible for causing oculocutaneous albinism. Recently, two new genes SLC24A5 and C10orf11 are identified that are responsible to cause OCA6 and OCA7, respectively. Also a locus has been mapped to the human chromosome 4q24 region which is responsible for genetic cause of OCA5. In this paper, we summarized the clinical and molecular features of OCA genes. Further, we reviewed the screening of pathological mutations of OCA genes and its molecular mechanism of the protein upon mutation by
approach. We also reviewed TYR (T373K, N371Y, M370T, and P313R), OCA2 (R305W), TYRP1 (R326H and R356Q) mutations and their structural consequences at molecular level. It is observed that the pathological genetic mutations and their structural and functional significance of OCA genes will aid in development of personalized medicine for albinism patients.
BioMed Research International 06/2014; 2014(1):905472. DOI:10.1155/2014/905472 · 1.58 Impact Factor
Available from: Helmut Beltraminelli
- "It represents approximately 20-30% of all neoplasms in Caucasians and 1-2% in those with colored skin . Skin cancer is a major cause of morbidity and mortality in Albinos who develop premalignant and malignant lesions at a younger age and suffer from advanced skin cancers in the third to fourth decade of life [2,3]. "
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ABSTRACT: Skin cancer is rare among Africans and albinism is an established risk for skin cancer in this population. Ultraviolet radiation is highest at the equator and African albinos living close to the equator have the highest risk of developing skin cancers.
This was a retrospective study that involved histological review of all specimens with skin cancers from African albinos submitted to The Regional Dermatology Training Center in Moshi, Tanzania from 2002 to 2011.
A total of 134 biopsies from 86 patients with a male to female ratio of 1:1 were reviewed. Head and neck was the commonest (n = 75, 56.0%) site affected by skin cancers. Squamous cell carcinoma (SCC) was more common than basal cell carcinoma (BCC) with a ratio of 1.2:1. Only one Acral lentiginous melanoma was reported. Majority (55.6%) of SCC were well differentiated while nodular BCC (75%) was the most common type of BCC.
Squamous cell carcinoma is more common than basal cell carcinoma in African albinos.
BMC Cancer 03/2014; 14(1):157. DOI:10.1186/1471-2407-14-157 · 3.36 Impact Factor
Available from: Geofrey Giiti
- "Melanin is a photo protective pigment, protecting the skin from the harmful effects of ultraviolet radiation. Its deficiency in people with albinism predisposes them to the harmful effects of ultraviolet radiation exposure, resulting in issues such as photophobia, decreased visual acuity, extreme sun sensitivity, and skin cancers [11,13]. High levels of exposure to ultraviolet radiation increase the risk of all three major forms of skin cancer and are responsible for the anatomical site distribution . "
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Skin cancers are a major risk associated with albinism and are thought to be a major cause of death in African albinos. The challenges associated with the care of these patients are numerous and need to be addressed. The aim of this study was to outline the pattern and treatment outcome of skin cancers among albinos treated at our centre and to highlight challenges associated with the care of these patients and proffer solutions for improved outcome.
This was a retrospective study of all albinos with a histopathological diagnosis of skin cancer seen at Bugando Medical Centre from March 2001 to February 2010. Data collected were analyzed using descriptive statistics.
A total of 64 patients were studied. The male to female ratio was 1.5:1. The median age of patients was 30 years. The median duration of illness at presentation was 24 months. The commonest reason for late presentation was financial problem. Head and the neck was the most frequent site afflicted in 46(71.8%) patients. Squamous cell carcinoma was the most common histopathological type in 75% of cases. Surgical operation was the commonest modality of treatment in 60 (93.8%) patients. Radiotherapy was given in 24(37.5%) patients. Twenty-seven (42.2%) of the patients did not complete their treatment due to lack of funds. Local recurrence following surgical treatment was recorded in 6 (30.0%) patients. Only thirty-seven (61.7%) patients were available for follow-up at 6–12 months and the remaining patients were lost to follow-up.
Skin cancers are the most common cancers among albinos in our environment. Albinism and exposure to ultraviolet light appears to be the most important risk factor in the development of these cancers. Late presentation and failure to complete treatment due to financial difficulties and lack of radiotherapy services at our centre are major challenges in the care of these patients. Early institution of preventive measures, early presentation and treatment, and follow-up should be encouraged in this population for better outcome.
BMC Dermatology 06/2012; 12(1):5. DOI:10.1186/1471-5945-12-5
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