[Homocystinuria. Histological and ultrastructural study. Report of a case (author's transl)]

The histological and ultrastructural appearance of the skin is reported in a case of homocystinuria. By optical microscopy, the collagen fibers appear granulose and non fascicular in the superficial dermis; in the deeper layers they are rare; the elastic network of the medium and lower dermis is thick and disrupted. Electron microscopically, some fibroblasts exhibit large autophagic vacuoles; the collagen fibers are normal while the elastic fibers are broken and dense; the dermal capillaries are normal. Vitamin B6 has shown its action by recoloring the patient's hair.