Gronblad-Standberg syndrome: a case report and review of literature
Keywords:
Grönblad-Strandberg syndrome, pseudoxanthoma elasticum, elastosis dystrophica syndrome, angioid streaksAbstract
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. The term Grönblad-Strandberg syndrome is used when angioid streaks in eye occur in association with pseudoxanthoma elasticum (PXE) of skin. We report a young patient having characteristic skin and eye manifestations of the syndrome. He was evaluated thoroughly regarding extent and potential systemic complications of the disease and was counseled accordingly. Since dermatologists are generally not familiar with historical background and ocular findings of the disease, a brief review of these two aspects is also made.References
Iglesia Puig MA, Puig Galy J, Bueno Gómez J et al. Gronblad-Strandberg syndrome. An Med Interna 1999; 16: 639-46.
Sherer DW, Sapadin AN, Lebwohl MGl. Pseudoxanthoma elasticum: an update. Dermatology 1999; 199: 3-7.
Chassaing N, Martin L, Calvas P et al. Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet 2005; 42: 881-92.
Engelman MW, Fliegelman MT. Pseudoxanthoma elasticum. Cutis 1978; 21: 837-40.
Martinez-Hernandez A, Huffer WE. Pseudoxanthoma elasticum: dermal polyanions and the mineralization of elastic fibers. Lab Invest 1974; 31: 181-6.
Coleman K, Ross MH, Mc Cabe M et al. Disk drusen and angioid streaks in pseudoxanthoma elasticum. Am J Ophthalmol 1991; 112: 166-70.
Connor PJ Jr, *** et al. Pseudo-xanthoma elasticum and angioid streaks: a review of 106 cases. Am J Med 1961; 30: 537-43.
Lebwohl M, Neldner K, Pope FM et al. Classification of pseudoxanthoma elasticum: report of a consensus conference. J Am Acad Dermatol 1994; 30: 103-7.
http://www.whonamedit.com/synd.cfm/1059.html**
Terry SF, Terry PF, Rauen KA et al. "Advocacy groups as research organizations: the PXE International example". Nat Rev Genet 2007; 8: 157-64.
Baccarani-Contri M, Vincenzi D, Cicchetti F et al. Immunochemical identification of abnormal constituents in the dermis of pseudoxanthoma elasticum patients. Eur J Histochem 1994; 38: 111-23.
Walker ER, Frederickson RG, Mayes MD. The mineralization of elastic fibers and alterations of extracellular matrix in pseudoxanthoma elasticum. Ultrastructure, immunocytochemistry, and X-ray analysis. Arch Dermatol 1989; 125: 70-6.
Sawa M, Ober MD, Freund KB, Spaide RF. Fundus autofluorescence in patients with pseudoxanthoma elasticum. Ophthalmology 2006; 113: 814-20.
Bari AU, Mehmood T. Pseudoxanthoma Elasticum. J Coll Physicians Surg Pak 2005; 15: 650-2.
