Abstract: We examined a father and son affected by Ehlers‐Danlos syndrome type II. Both patients had micrognathia together with ligament and skin hy‐perlaxity. The son exhibited complete cleft palate. Ultrastructural studies revealed abnormal collagen fibrils in the dermis of both patients. In the child the most striking alterations consisted of lateral fusion of an enormous number of collagen fibrils giving rise to huge polymorphic collagen masses. In the father's dermis the great majority of collagen fibrils appesired normal; however, lateral fusion of fibrils together with local abnormal collagen aggregation were occasionally seen. In both patients the dermal elastic network was well developed and elastic fibers appeared normal. Copyright © 1987, Wiley Blackwell. All rights reserved
Familial Ehlers‐Danlos Syndrome Type II: Abnormal Fibrillogenesis of Dermal Collagen / Rizzo, R.; Contri, M. B.; Micafi, G.; Quaglino, D.; Pavone, L.; Ronchetti, I. P.. - In: PEDIATRIC DERMATOLOGY. - ISSN 0736-8046. - 4:3(1987), pp. 197-204. [10.1111/j.1525-1470.1987.tb00778.x]
Familial Ehlers‐Danlos Syndrome Type II: Abnormal Fibrillogenesis of Dermal Collagen
Contri M. B.;Quaglino D.;
1987
Abstract
Abstract: We examined a father and son affected by Ehlers‐Danlos syndrome type II. Both patients had micrognathia together with ligament and skin hy‐perlaxity. The son exhibited complete cleft palate. Ultrastructural studies revealed abnormal collagen fibrils in the dermis of both patients. In the child the most striking alterations consisted of lateral fusion of an enormous number of collagen fibrils giving rise to huge polymorphic collagen masses. In the father's dermis the great majority of collagen fibrils appesired normal; however, lateral fusion of fibrils together with local abnormal collagen aggregation were occasionally seen. In both patients the dermal elastic network was well developed and elastic fibers appeared normal. Copyright © 1987, Wiley Blackwell. All rights reserved
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