ABSTRACT
In 2 young children, boys aged 8 and 14 months, who were referred with fever and typical concentric skin lesions and oedema (except for on the trunk), acute haemorrhagic oedema was diagnosed. This is a benign leucocytoclastic vasculitis of the skin accompanied by oedema, which affects children between birth and 36 months of age. It is often preceded by an infection or vaccination. As a rule, recovery is complete.
Subject(s)
Edema/etiology , Vasculitis, Leukocytoclastic, Cutaneous/complications , Vasculitis, Leukocytoclastic, Cutaneous/diagnosis , Acute Disease , Diagnosis, Differential , Ecchymosis/etiology , Humans , IgA Vasculitis/diagnosis , Infant , Male , Prognosis , Purpura/etiology , SyndromeABSTRACT
In 1988 three families were described in this journal with Fabry's disease, an X-linked recessive lysosomal storage disorder caused by the deficiency of alpha-galactosidase A. A fourth family contained four affected men of whom one was unavailable for evaluation. The other three had the same mutation in de alpha-galactosidase gene, notably Gln386Stop, leading to the change of a glutamine codon into a stop codon. Genetic investigation in one of the other families revealed the Met72Arg mutation. The classical symptoms of the disease (angiokeratomata, acroparaesthesias, hypohidrosis and lucid areas in the cornea) are frequently only recognized after a doctor's delay that may be as long as decades. The recognition of this disease is even more important now, as therapeutic possibilities are in sight.
