Familial Ehlers-Danlos syndrome type II: abnormal fibrillogenesis of dermal collagen.

Abstract:

:We examined a father and son affected by Ehlers-Danlos syndrome type II. Both patients had micrognathia together with ligament and skin hyperlaxity. 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 appeared 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.

journal_name

Pediatr Dermatol

journal_title

Pediatric dermatology

authors

Rizzo R,Contri MB,Micali G,Quaglino D,Pavone L,Ronchetti IP

doi

10.1111/j.1525-1470.1987.tb00778.x

subject

Has Abstract

pub_date

1987-11-01 00:00:00

pages

197-204

issue

3

eissn

0736-8046

issn

1525-1470

journal_volume

4

pub_type

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