D. Garciacruz et al., CLINICAL, MORPHOLOGICAL AND BIOCHEMICAL FEATURES IN THE FAMILIAL ARTICULAR HYPERMOBILITY SYNDROME (FAHS) - A FAMILY STUDY, Clinical genetics, 53(2), 1998, pp. 108-113
A female with clinical features of familial articular hypermobility sy
ndrome (FAHS) and her family were studied. The subject subjected gener
alized hypermobility, except for a painful shoulder which presented fu
nctional limitation with a diagnosis of painful shoulder syndrome. Bio
chemical studies demonstrated that collagen and glycosaminoglycans (GA
Gs) contests from skin biopsies of the subject and her family were alm
ost normal, Nevertheless, the densitometric analysis of electrophoreti
c patterns showed differences in the relative proportions of their col
lagenous components, Thy were characterized by changes in type I and I
II collagens and the presence of type V collagen, in the subject, her
father and brother. Also, they presented changes in the types of GAGs,
when compared with those of normal skin, Morphological studies reveal
ed a general disorganization of dermal components, a loose collagen ne
twork characterized by thick bundles. Also. besides cellular elements,
the presence of an abundant darkly staining material was observed. Bi
ochemical and morphological findings permit us to suggest a connective
tissue defect, initially described ill the FAHS, otherwise known as E
hlers-Danlos syndrome (EDS) type XI.