Oculocutaneous albinism

Abstract

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 1 and 2 are the most common, but several other types have been described. A defect in the melanin synthesis pathway, resulting in reduced formation of melanin, is responsible for oculocutaneous albinism. Aetiology, clinical manifestations, diagnosis and management are discussed.

Case report: a black and white twin

“…Prenatal diagnosis of albinism is also possible by demonstration of the mutated tyrosinase gene after amniocentesis or from a fetal skin biopsy. 5 The child described in the case was diagnosed with OCA type 2 by means of DNA analysis in a blood sample (direct sequencing showed an exon 7 deletion in the P gene). However, albinism is merely clinically diagnosed by the patient's appearance, being characterized by a general reduction of pigment in the skin, hair and eyes.…”

“…As functional tyrosinase is produced in OCA type 2, it is named the tyrosinase-positive form. 5,6 OCA types 1 and 2 differ on the bases of genetics and the degree of skin and hair hypopigmentation and ocular manifestations, with OCA type 1 being more severe.…”

“…Foveal hypoplasia leads to an inaccurate projection of the image on the macula lutea because of the widespread localization of the cones, resulting in reduced vision and nystagmus that presents from the age of 3 to 4 months. 5,6 There is no curative treatment for albinism. Photoprotection, however, can reduce the main complications such as skin cancer and loss of vision.…”

“…Complaints of nystagmus can be treated with contacts or surgical correction of the eye muscles. 5,6 The most prevalent skin disorders in albinos are basal cell carcinoma and squamous cell carcinoma, whereas melanoma are rare. 5 The highest prevalence of squamous cell carcinoma is consistently shown in the albino population.…”

“…5,6 The most prevalent skin disorders in albinos are basal cell carcinoma and squamous cell carcinoma, whereas melanoma are rare. 5 The highest prevalence of squamous cell carcinoma is consistently shown in the albino population. [7][8][9][10] Lookingbill et al 9 studied albinos in Tanzania and found actinic keratosis in 91% of the albino patients of 20 years and older, and in 34% of the patients who were 30 years and older they diagnosed skin cancer.…”