Ehlers-Danlos Syndrome and Multiple Neurofibromatosis

Case Studies1 September 1964Ehlers-Danlos Syndrome and Multiple NeurofibromatosisROGER W. TURKINGTON, M.D., HARVEY E. GRODE, M.D.ROGER W. TURKINGTON, M.D.Search for more papers by this author, HARVEY E. GRODE, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-61-3-549 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptMultiple neurofibromatosis associated with the Ehlers-Danlos syndrome has been described in two previous case reports. Crowe, Schull, and Neel (1) reported one patient with Ehlers-Danlos syndrome in their extensive studies on neurofibromatosis. Goodman, Levitsky, and Friedman (2) have reported a kindred in which members of four generations exhibited features of the Ehlers-Danlos syndrome and three generations were involved by neurofibromatosis, with a total of five individuals manifesting both syndromes. This report deals with several unusual clinical features of an additional case in which each of these rare syndromes occurred together in a severely disabling form.CASE REPORTA 29-year-old white...References1. CROWESCHULLNEEL FWWJJW: A Clinical Pathological and Genetic Study of Multiple Neurofibromatosis. Charles C Thomas, Springfield, Illinois, 1956, p. 112. Google Scholar2. GOODMANLEVITSKYFRIEDMAN RMJMIA: The Ehlers-Danlos Syndrome and multiple neurofibromatosis in a kindred of mixed derivation, with special emphasis on hemostasis in the Ehlers-Danlos syndrome. Amer. J. Med. 32: 976, 1962. CrossrefMedlineGoogle Scholar3. KING-LEWISPOLUNIN FLBM: TWO cases of Ehlers-Danlos syndrome. Arch. Dis. Child. 22: 170, 1947. CrossrefMedlineGoogle Scholar4. JANSEN LH: The structure of the connective tissue: an explanation of the symptoms of the Ehlers-Danlos syndrome. Dermatologia (Basel) 110: 108, 1955. CrossrefMedlineGoogle Scholar5. MOWRY R: Improved procedure for the staining of acidic polysaccharides by Muller's colloidal (hydrous) ferric oxide and its combination with the Feulgen and the periodic acid-Schiff reaction. Lab. Invest. 7: 566, 1958. MedlineGoogle Scholar6. KEY JA: Hypermobility of joints as a sex-linked hereditary characteristic, JAMA 88: 1710, 1927. CrossrefGoogle Scholar7. SUTRO CJ: Hypermobility of bones due to "overlengthened" capsular and ligamentous tissues: cause for recurrent intra-articular effusions. Surgery 21: 67, 1947. MedlineGoogle Scholar8. BENJAMINWEINER BH: Syndrome of cutaneous fragility and hyperelasticity and articular hyperlaxity. Amer. J. Dis. Child. 65: 247, 1943. Google Scholar9. SULLIVAN JD: The Danlos-Ehlers Syndrome: Report of a case with transient paralysis of vocal cord. Arch. Neurol. (Chicago) 47: 316, 1942. CrossrefGoogle Scholar10. MCKUSICK VA: Heritable Disorders of Connective Tissue. Third Edition, C. V. Mosby Co., St. Louis, 1960, p. 135. Google Scholar11. LEVER WF: Histopathology of Skin. Second Edition, Pitman, London, p. 56. Google Scholar12. KATZSTEINER IK: Ehlers-Danlos syndrome with ectopic bone formation. Radiology 65: 352, 1955. CrossrefMedlineGoogle Scholar13. MARGAROTDEVEZECOLL DE CARRERA JP: Hyperlaxite cutanee et articulaire (syndrome de Danlos) existant chez trois membres d'une meme famille. Bull. Soc. Franc. Derm. Syph. 40: 277, 1933. Google Scholar14. HALLOPEAULESPINAY HM: Sur un cas de xanthome tuberux et en tumeurs juvenile offrant les caracteres du xanthome diabetique. Bull. Soc. Franc. Derm. Syph. 17: 283, 1906. Google Scholar15. CATHALA J: Cutis laxa et syndrome d'Ehlers-Danlos. Arch. Med. Enf. 40: 107, 1937. Google Scholar16. MARGAROTDEVEZEDE CARRERA JPC: L'hyperlaxite familiale de la peau et des articulations (syndrome de Danlos). Montpellier Med. 3: 133, 1933. Google Scholar17. GILBERTVILLARETBOSVIEL AMG: Sur un cas d'hyperelasticite congenitale des ligaments articulares et de la peau. Bull. Soc. Méd. Hop. Paris 59: 303, 1925. Google Scholar18. BURROWS A: Epidermolysis bullosa with cutis hyperelastica. Proc. Roy. Soc. Med. 25: 1319, 1932. CrossrefMedlineGoogle Scholar19. FREEMAN JT: Ehlers-Danlos syndrome. Amer. J. Dis. Child. 79: 1049, 1950. MedlineGoogle Scholar20. CORNILMICHON LP: Sur la presence de mastocytes dans les tumeurs cutanees de la maladie de Recklinghausen. C. R. Soc. Biol. (Paris) 91: 787, 1924. Google Scholar21. LECOULANT T: Contribution a l'etude des reactions mastocytaires cutanees dans la maladie de Recklinghausen (note preliminaire). Bull. Soc. Franc. Derm. Syph. 65: 331, 1958. MedlineGoogle Scholar22. ASBOE-HANSEN G: A survey of the normal and pathological occurrence of mucinous substances and mast tissue in man. Acta Dermatovener (Stockholm) 30: 338, 1950. MedlineGoogle Scholar23. BINAZZILANDI MG: Studio dei mastociti nella neurogliomatosi di Recklinghausen. G. Ital. Derm. 102: 208, 1961. MedlineGoogle Scholar24. LASCANO EF: Mast cells in human tumors. Cancer 11: 1110, 1958. CrossrefMedlineGoogle Scholar25. HILL M: Secretion of heparin by mast cells. Nature (London) 180: 654, 1957. CrossrefMedlineGoogle Scholar26. WEST GB: Pharmacology of the tissue mast cell. Brit. J. Derm. 70: 409, 1958. CrossrefMedlineGoogle Scholar27. RILEYWEST JFGB: Presence of histamine in tissue mast cells. J. Physiol. (London) 120: 528, 1953. CrossrefGoogle Scholar28. SMITH DE: Dynamics of release of histamine from mast cells. Science 128: 207, 1958. CrossrefMedlineGoogle Scholar29. TURNERKELLYPAYNE NSPJWS: Congenital neurofibromatosis presenting as a surgical emergency. JAMA 185: 136, 1963. CrossrefMedlineGoogle Scholar30. NAUNTONHEMENWAY RFWG: Case of neurofibromatosis presenting as acute surgical emergency. Arch. Otolaryng. (Chicago) 72: 369, 1960. CrossrefMedlineGoogle Scholar31. SAEMUNDSSON J: Ehlers-Danlos syndrome; a congenital mesenchymal disorder. Acta Med. Scand. (Suppl.) 311/312: 399, 1956. Google Scholar32. SUMMER GK: The Ehlers-Danlos syndrome; a review of the literature and report of a case with a subgaleal hematoma and Bell's palsy. Amer. J. Dis. Child. 91: 419, 1956. CrossrefMedlineGoogle Scholar33. LISKERNOGUERONSANCHEZ-MEDAL RAL: Plasma thromboplastin component deficiency in the Ehlers-Danlos syndrome. Ann. Intern. Med. 53: 388, 1960. LinkGoogle Scholar34. WIGZELLOGSTON FWD: The bleeding tendency in Ehlers-Danlos syndrome. Ann. Phys. Med. 7: 55, 1963. MedlineGoogle Scholar35. DAYZARAFONETIS HJCJ: Coagulation studies in four patients with Ehlers-Danlos syndrome. Amer. J. Med. Sci. 242: 565, 1961. MedlineGoogle Scholar36. MACFARLANE L: Ehlers-Danlos syndrome presenting certain unusual features. J. Bone Joint Surg. 41B: 541, 1959. CrossrefGoogle Scholar37. HAREMILLER FWAJ: Capillary resistance tests. Arch. Derm. Syph. (Chicago) 64: 449, 1951. CrossrefGoogle Scholar38. NAGEL F: Die mechanische eigenschaften der kapillerwand und ihre bezeihungen zum bindegewebslager. Z. Zellforsch. 21: 376, 1934. CrossrefGoogle Scholar39. PIEZEIGNERLEWIS KAEAMS: Chromatographic separation and amino acid composition of subunits of several collagens. Biochem. 2: 58, 1963. CrossrefGoogle Scholar40. VEISANESEYCOHEN AJJ: Long range reorganization of gelatin to collagen structure. Arch. Biochem. 94: 20, 1961. CrossrefMedlineGoogle Scholar41. BLUMENFELDGALLOP OOPM: Participation of aspartyl residues in hydroxylamineor hydrazine-sensitive bonds of collagen. Biochemistry 1: 947, 1962. CrossrefMedlineGoogle Scholar42. JAMESNEWCOMBE DWJF: Granulation tissue resorption during free and limited contraction of skin wounds. J. Anat. 95: 247, 1961. MedlineGoogle Scholar43. TUNBRIDGETATTERSALLHALLASTBURYREED RERNDAWTR: The fibrous structure of normal and abnormal human skin. Clin. Sci. 11: 315, 1952. MedlineGoogle Scholar44. HUNTPUGH JCDG: Skeletal lesions in neurofibromatosis. Radiology 76: 1, 1961. CrossrefMedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAuthors: ROGER W. TURKINGTON, M.D.; HARVEY E. GRODE, M.D.Affiliations: Durham, North CarolinaFrom the Department of Medicine, Duke Hospital, Durham, North Carolina.Requests for reprints should be addressed to Roger W. Turkington, M.D., Duke Medical Center, Durham, North Carolina. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byPodiatric surgical considerations in the ehlers-danlos patientCutaneous Wound Healing in Ehlers-Danlos SyndromeIrregular Blood CoagulationEhlers-Danlos Syndrome: A case with some skeletal changesFunctional and Ultrastructural Abnormalities of Platelets in Ehlers-Danlos SyndromeHEIHACHIRO KASHIWAGI, M.D., JEANNE M. RIDDLE, PH.D., JOSEPH P. ABRAHAM, M.D., BOY FRAME, M.D., F.A.C.P. 1 September 1964Volume 61, Issue 3Page: 549-555KeywordsBloodCatheterizationGeneticsHospital medicinePathogenesis ePublished: 1 December 2008 Issue Published: 1 September 1964 PDF downloadLoading ...