[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.
D002648:Child; D003238:Connective Tissue / Q000473:pathology; D006200:Hair Color; D006712:Homocystinuria / Q000188:drug therapy / Q000473:pathology*; D006801:Humans; D008297:Male; D011736:Pyridoxine / Q000627:therapeutic use; D012867:Skin / Q000473:pathology* / Q000648:ultrastructure
D011736:Pyridoxine
Homocystinurie. Etude histologique et ultrastructurale. A propos d'un cas.