ABSTRACT
The Grönblad-Strandberg syndrome is a rare congenital hereditary dysplasic disorder of the connective tissue, characterized by a progressive abnormal mineralization and dystrophic calcification of elastic tissue and collagen. This process affects tissues rich in elastic fibers and multiple systems of the organism, the cutaneous, ocular and vascular being the most common. These findings progress through the life of the affected person. We present 4 cases in the same family, with heterogeneous clinic pattern and evolution.
Subject(s)
Pseudoxanthoma Elasticum/diagnosis , Adult , Female , Humans , Male , Middle Aged , PedigreeABSTRACT
The Grönblad-Strandberg syndrome, also known as pseudoxanthoma elasticum, is a rare congenital dysplasic disorder of the connective tissue, characterized by a progressive abnormal mineralization and dystrophic calcification of elastic tissues and collagen (1). The mode of inheritance is uncertain, but autosomal recessive inheritance can be assumed. This process affects tissues rich in elastic fibres and multiple systems of the organism, being the most common the cutaneous (pseudoxanthoma elasticum), ocular (angioid streaks), vascular (occlusive vascular disease) and gastrointestinal manifestations. These findings progress through the life of the affected person, with variable pattern clinic and evolution.