Management of albinism: French guidelines for diagnosis and care.

Albinism is a worldwide genetic disorder caused by mutations in at least 20 genes, identified to date, that affect melanin production or transport in the skin, hair and eyes. Patients present with variable degrees of diffuse muco-cutaneous and adnexal hypopigmentation, as well as ocular features including nystagmus, misrouting of optic nerves and foveal hypoplasia. Less often, albinism is associated with blood, immunological, pulmonary, digestive and/or neurological anomalies.

Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the gene.

Aim: Oculocutaneous albinism type 1 (OCA1) is due to mutations. c.1205G>A/p.

[Subcutaneous myiasis. A case report].

Unlabelled: Although myiasis or hypodermiasis is a parasitic disease that theoretically has practically been eradicated, a new case has recently been reported in Lower Normandy, in a bovine husbandry region.

Case Report: A seven-year-old-girl was hospitalized in November 1998 for an edema of variable size on the right eyelid, which was not painful and non-inflammatory, with accompanying ptosis. A number of subcutaneous nodules were found on the forehead above the right eye socket.