Ehlers-Danlos Syndrome and Multiple Neurofibromatosis

Abstract

A case is reported of Ehlers-Danlos Syndrome in association with multiple neurofibromatosis in a severely disabled 29-year old white male. Many of the unusual features of the Ehlers-Danlos syndrome were present including kyphoscoliosis, leg cramps, molluscoid pseudotumors, calcified skin spherules, joint dislocations, dental deformity, arachnodactyly, and acrocyanosis. The patient demonstrated a bleeding tendency associated with poor clot retraction and a positive Rumpel-Leede test. The literature on the unusual clinical features of each of these syndromes is reviewed in relation to their pathogenesis. Many of the patient''s symptoms may possibly be explained on the basis of histamine release from the mast cells infiltrating neurofibromata. Skin biopsy showed normal elastin fibers, diminished or absent acid mucopolysaccharides in the dermis, and disorganization of the collagen fibrils of the dermis. It is suggested that defective intermolecular bonding of collagen molecules may be the basis of Ehlers-Danlos syndrome. The possibility of a genetic association between these conditions is discussed.