[Ichthyosiform scaling in alpha-1,4-glucosidase deficiency].

In two patients suffering from infantile and juvenile types of alpha-1,4 glucosidase deficiency (Pompe's disease, glycogen storage disease types 2a and 2b) with typical lysosomal glycogen storage, widespread dry "ichthyosiform" scaling skin was observed. The clinical and microscopical findings resembled those of ichthyosis vulgaris. Even in the cytoplasm of keratinocytes vacuolar glycogen accumulation was demonstrated, suggesting a correlation between this pathological storage process and the symptom of "scaling". Therefore, ichthyosiform scaling conditions should be investigated not only for disorders of lipid metabolism but also for a possible disturbance of the carbohydrate-digesting enzymes.