Aldrich's Syndrome: Familial Thrombocytopenia, Eczema and Infection.

In 1954 Aldrich, Steinberg and Campbell described a family, originally of Dutch extraction, in which the male infants were liable to die at a young age having shown signs of 'draining ears, eczematoid dermatitis and bloody diarrhoea' from the age of a few weeks. They briefly described the clinical features in one child who was a member of this family and who died. They went on to show quite clearly that if the condition which had killed previous male members of the family was the same (as the family itself maintained) then it must have been genetically determined. Since it affected only male members of the family and only some of them, they concluded that the condition must be due to a sex-linked recessive gene which was passed down through the females to the males (in the same way as haemophilia and pseudo-hypertrophic muscular dystrophy). They showed, too, that in the last three generations 16 out of 40 males had been affected and had died within the first 31 months of life. Further evidence of the genetic basis of the condition in Aldrich's family has been produced more recently by Krivit and Good (1959), who report that the two females who appear to carry the gene at the moment, and are reproducing, have produced eight children between them since Aldrich's paper was published. Two of them are girls and are normal, while six of them are boys, three of whom have been affected by the condition. This is what one would expect if it were due to a sex-linked recessive gene. It seems quite definite therefore that in the family described by Aldrich the condition is genetically determined in this way. Meanwhile Huntley and Dees (1957) have described other white families in which the same condition appears to have been present, and Wolff and Bertucio (1957) have described it in a Negro family. Huntley and Dees contributed considerably towards determining the clinical picture and they described the main features as being 'eczema associated with thrombocytopenic purpura and purulent otitis media'. They described five cases, all of whom died. In only two of these cases, however, was the genetic nature of the condition at all conclusive. These two cases (1 and 2 in their series) were brothers. In their Case 3 no family history was obtainable and in their Case 4 the child was adopted and no family history was available. In Case 5 there was a suggestive but unconvincing family history. Although Wolff and Bertucio reported their Negro family in 1957, it was only briefly, and further details do not seem to have been published. It is possible therefore to include their family as one in which the abnormal gene is carried, but it is not possible to include the individual cases of the family in this review since full details are not available. Very recently Mills and Winkelmann (1959) have reported a further three cases in two families. Again all the children were male and there was a strong family history in all of them. Two of them were cousins. All three have died. To date, therefore, seven* families have been reported, who seem to carry this abnormal gene, and full details are available of 16t cases, some of whom do not have a positive family history but are clinically identical with those who do. All 16 were males and all are dead. The object of the present communication is to report two cases in an English family which also seems to carry the abnormal gene. One has died and the other is still alive.