title: [Changes in the keratinocytes in oculo-cutaneous tyrosinosis: Richner-Hanhart syndrome (author's transl)].
abstract: The Richner-Hanhart syndrome corresponds to a tyrosine elevation in serum due to a defect in soluble tyrosine amino-transferase in liver cells. This new enzymopathy which is transmitted in an autosomal recessive mode is called oculo-cutaneous tyrosinosis. It is curable by a low diet in tyrosine and its precursors. The diagnosis has been clinically suggested in an 18 months old girl, by the association of punctate palmar and plantar keratosis, dendritic ulcerated keratitis, and mental retardation. The diagnosis was established by elevation of tyrosinemia up to 52 mg/100 ml associated with a high urinary elimination of tyrosine and phenylcetonic acid. Absence of anomaly in the metabolism of methionin and hepatorenal lesion is characteristic. The diagnosis was confirmed by the absence of soluble tyrosine aminotransferase in liver cells and by the effectiveness of the diet. The clinical keratosis corresponds histologically to a orthokeratotic hyperkeratosis. The keratinocytes show 2 types of anomalies ranged in the epiderm. Intracytoplasmic vacuoles which include or lead to pseudomyelinic formations extend progressively from the mitochondrial alterations in the epidemial basal layers. Bulky polyhedral electron dense particles are found in the cytoplasm of the superficial keratinocytes. Most of these images have been demonstrates anteriorly in the keratinocytes ant the corned; on the other hand, signs of mitochondrial anomaly had not been observed. The genesis of these cellular alterations based on the liberation of lysosomial enzymes by the action of crystals of tyrosine has been suggested by Goldsmith from experimental facts. However, it seems that the mitochondrial defect occurs outside this mechanism.
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000473:pathology*; D000818:Animals; D003315:Cornea / Q000473:pathology / Q000648:ultrastructure; D004817:Epidermis / Q000473:pathology* / Q000648:ultrastructure; D005260:Female; D006801:Humans; D007223:Infant; D007635:Keratitis, Dendritic / Q000209:etiology; D007642:Keratosis / Q000209:etiology / Q000473:pathology; D008928:Mitochondria / Q000648:ultrastructure; D051381:Rats; D014443:Tyrosine / Q000097:blood*
chemical_list: D014443:Tyrosine
vernacular_title: Modification des kératinocytes au cours de la tyrosinose oculo-cutanée: syndrome de Richner-Hanhart.