Acrodermatitis enteropathica with dysgammaglobulinemia

In 1942 Danbolt and Closs described the association of diarrhea, eczematoid rash and alopecia. These physical findings constitute the triad essential for the diagnosis of this autosomal recessive disease. The demonstration of the efficacy of Diodoquin therapy in this otherwise fatal disease was by Dallaha and Lorincz in 1953. Reports since then indicated partial success utilizing this agent, breast milk or a combination of the two. The major cause of death has been overwhelming infection. This sequellous has been ascribed to the marasmic status of the children. The case described is an 8-month-old boy who demonstrated the classic triad of this syndrome in association with total absence of humoral IgA and IgG, and normal levels of IgM. Autopsy revealed sparse lymphoid elements and supported the diagnosis of dysgammaglobulinemia. Arachidonic acid was detectable at extremely low levels in serum. Metabolism of tryptophan was normal. The association of acrodermatitis and dysgammaglobulinemia may represent the occurrence of two distinct disease entities or suggest a pathogenetic relationship. Our experience with this patient supports the view that halogen-substituted-8-hydroxyquinolins specifically affect the skin manifestations in this syndrome but may be ineffective against the malabsorptive component. Both these features were well controlled by therapy with Diodoquin and breast milk.