[Early acroparesthesia in females: a sign disclosing heterozygote Fabry disease]. / Acroparesthésies féminines précoces: signe révélateur d'une maladie de Fabry à l'état hétérozygote.

Heterozygous Fabry's disease has an inconstant expression and very few complications. The theory of X-chromosome inactivation which, according to Lyon, occurs hazardly, is illustrated by the fact that the disease is expressed even in hemizygous women. Ophthalmic manifestations, as detected by the slit lamp method, are almost constant, 80 p. 100 of women with the disease having a verticillate cornea. Angiokeratoma is present in 20 p. 100 of the cases. Episodes of paraesthesia of the hands and feet are less common; in most cases they are attributed to the disease retrospectively, during family investigations. In two girls aged 10 and 11 years respectively and without history of Fabry's disease the only symptom suggestive of the diagnosis was paroxysmal acroparaesthesia. In one of the girls acroparaesthesia was associated with acrocyanosis, livedo and acro-osteolysis, but concordance was the only argument in favour of a link with Fabry's disease. Alterations of the extremities have been reported in this disease, including palmar erythema and a bluish discoloration of the palms due to dilatation of the superficial veins. Only two cases of livedo have been published. Acrosteolysis has never been documented in Fabry's disease, and its presence must be confirmed in further cases. The diagnosis of heterozygous Fabry's disease in these 2 girls was confirmed by the finding of ceramide trihexoside in urine and by leucocyte alpha-galactosidase levels that were 25 to 30 p. 100 of values obtained in controls. A study of the family of one of the girls showed that the father was involved; this hemizygous type of the disease with a 10 p. 100 alphagalactosidase level was totally asymptomatic.(ABSTRACT TRUNCATED AT 250 WORDS)

[Cutaneous necrotizing angiitis]. / Angéites nécrosantes cutanées.

The term necrotizing angiitis signifies a histological lesion combining an inflammatory infiltration rich in pycnotic polynuclear cells to fibrinoid deposits of the vessels wall and/or of the near by collagen. This type of lesions may affect vessels of small caliber or vessels with a muscular wall (arterioles). In the skin, with the term necrotizing angiitis, is implied a lesion affecting the small vessels of the dermis, capillaries and mostly post-capillary venules. The most frequent, by far, clinical manifestation is a palpable purpura; more seldom, it may be lesions of urticaria, livedo or necrotic lesions. these cutaneous necrotizing angiitis may represent alone the entire symptomatology; they may be associated with varied deep localizations of the same type and finally combine with or precede diseases perfectly defined in other respects, especially collagen diseases. Thus, the term necrotizing angiitis refer to a multitude of entities, syndromes which it is only possible to regroup with many clinical, immuno-pathological, etiological and biological data, each of these data alone being an insufficient reference to characterize them.