Resumo

MINGARRO CASTILLO, Mª Mercedes; EJARQUE DOMENECH, Ismael  e  SORLI GUEROLA, José Vicente. Albinism. Rev Clin Med Fam [online]. 2013, vol.6, n.2, pp.112-114. ISSN 2386-8201.  https://dx.doi.org/10.4321/S1699-695X2013000200007.

Albinism is a rare disease consisting of a group of genetic alterations in the pigment melanin system which can affect the skin, hair follicles and eyes. We report the case of a 45 year old male patient with a history of consanguinity who has shown from birth symptoms and signs in the skin, hair and eyes, typical in oculocutaneous albinism, with an older brother showing the same phenotype. Diagnosis has been confirmed recently by albinochip. The patient requires regular ophthalmic and dermatological checks and monitoring, as well as following lifelong prophylactic measures. Currently in Spain, there is no reference unit for albinism.

Palavras-chave : Albinism; Monophenol Monooxygenase; Rare Diseases; medical genetics; Strabismus; Skin Neoplams.

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