
doi: 10.1007/bf00688074
pmid: 899728
Conjunctival and skin biopsies were performed in an 11 1/2 year-old caucasian male affected by adrenoleukodystrophy (ALD). In Schwann cells surrounding myelinated axons in conjunctival and dermal nerve bundles, empty clefts and 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.
Male, Biopsy, Diffuse Cerebral Sclerosis of Schilder, Nerve bundles, Axons, Pathologie générale, Vacuolated eccrine glands, Neurologie, Conjunctival biopsy, Skin biopsy, Médecine légale, Humans, Human medicine, Schwann Cells, Adrenoleukodystrophy, Child, Sciences cognitives, Conjunctiva, Adrenal Insufficiency, Skin
Male, Biopsy, Diffuse Cerebral Sclerosis of Schilder, Nerve bundles, Axons, Pathologie générale, Vacuolated eccrine glands, Neurologie, Conjunctival biopsy, Skin biopsy, Médecine légale, Humans, Human medicine, Schwann Cells, Adrenoleukodystrophy, Child, Sciences cognitives, Conjunctiva, Adrenal Insufficiency, Skin
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