منابع مشابه
Albinism, Partial Albinism, and Vitiligo
Albinism, partial albinism, and vitiligo are three clinically distinct conditions having in common a deficiency of melanin pigment. As such they present the physician with the same basic problems-cosmetically disfiguring lesions and extreme sensitivity to sunlight of the involved areas. None of the diseases is itself an immediate threat to life, but the social disabilities, especially among dar...
متن کاملOculocutaneous albinism
Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting that about 1 in 70 people carry a gene for OCA. The clinical spectrum of OCA ranges, with OCA1A b...
متن کاملAlbinism: modern molecular diagnosis.
Albinism is no longer a clinical diagnosis. The past classification of albinism was predicated on phenotypic expression, but now molecular biology has defined the condition more accurately. With recent advances in molecular research, it is possible to diagnose many of the various albinism conditions on the basis of genetic causation. This article seeks to review the current state of knowledge o...
متن کاملOculocutaneous albinism type 2
Oculocutaneous albinism represents a group of inherited skin disorders characterized by a generalized reduction of cutaneous, ocular, and pilar pigmentation from the time of birth. Oculocutaneous albinism types I and II are the most common, with several other types described. A defect in the melanin synthesis pathway, resulting in reduced formation of melanin, is responsible for oculocutaneous ...
متن کاملFuller , albinism C.indd
Dermatologist, East Kent Hospitals NHS Trust, Canterbury, Kent Oculocutaneous albinism is an hereditary disease that is found worldwide. However, it is in the tropical parts of the world where the clinical and life-altering impact is felt most predominantly by persons affected with albinism (PAA) due to sun exposure and skin cancer, social exclusion and persecution secondary to lack of understa...
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ژورنال
عنوان ژورنال: The Boston Medical and Surgical Journal
سال: 1860
ISSN: 0096-6762,1533-4406
DOI: 10.1056/nejm186004260621301