Genetic Disorders of Collagen, Elastin and Dermal Matrix

Abstract

The inherited disorders of connective tissue are a heterogeneous group of conditions characterized by defects involving primarily one element of the connective tissue: collagen, elastic fibre or other extracellular matrix proteins. Multisystem involvement is common and can be fatal. There is variable skin involvement but recognition of characteristic skin findings may provide an early diagnosis and identify those at risk of internal complications. This chapter covers the inherited disorders of collagen and elastic fibres, infantile stiff skin and premature ageing syndromes, disorders of ectopic calcification and abnormal mineralization, as well as other syndromes related to abnormal connective tissue.