[Hyalinosis cutis and mucosae. Ultrastructural histochemical aspects indicating intracellular accumulation of glycosaminoglycans].

@article{Leheup1986HyalinosisCA,
  title={[Hyalinosis cutis and mucosae. Ultrastructural histochemical aspects indicating intracellular accumulation of glycosaminoglycans].},
  author={B P Leheup and Claude Jeandel and Jean Claude Guedenet and Ginette Mandon and F X Macquart and Brigitte Lina Kieffer and Manfred Weber and Marie Vidailhet},
  journal={Annales de pathologie},
  year={1986},
  volume={6 1},
  pages={53-9}
}
The exact nature of the genetic defect of hyalinosis cutis et mucosae or d'Urbach-Whiete syndrome is still matter of controversy. The present article reports on three new cases in which several different ultrastructural and biochemical investigations add more arguments to support an anomaly of the glycosaminoglycans degradation in the dermal fibroblasts… CONTINUE READING