Skin and conjunctival biopsies in adrenoleukodystrophy

Conjunctival and skin biopsies were performed in an 111/2 year-old caucasian male affected by adrenoleukodystrophy (ALD). In Schwann cells surrounding myelinated axons in conjunctival and dermal nerve bundles, empty clefts and a few arrays of lamellae were discovered. The vacuolization in the eccrine glands of the skin, another striking feature, has not been reported previously in ALD. The obtained results suggest that ALD can be diagnosed in skin specimens precluding major surgery for biopsy. They provide support to the hypothesis of Schaumburg et al. (1975) that ALD is a generalized metabolic disorder.