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Colonic hamartomas in tuberous sclerosis

  • Ghislain Devroede
    Correspondence
    Address requests for reprints to: Dr. Ghislain Devroede, Département de Chirurgie, Centre Hospitalier Universitaire, Sherbrooke, Québec, Canada J1H 5N4.
    Affiliations
    Départements de Chirurgie, Médecine, Pédiatrie et Pathologie, Faculté de Médecine, Université de Sherbrooke, Sherbrooke, Québec, Canada
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  • Bernard Lemieux
    Affiliations
    Départements de Chirurgie, Médecine, Pédiatrie et Pathologie, Faculté de Médecine, Université de Sherbrooke, Sherbrooke, Québec, Canada
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  • Serge Massé
    Affiliations
    Départements de Chirurgie, Médecine, Pédiatrie et Pathologie, Faculté de Médecine, Université de Sherbrooke, Sherbrooke, Québec, Canada
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  • Jacques Lamarche
    Affiliations
    Départements de Chirurgie, Médecine, Pédiatrie et Pathologie, Faculté de Médecine, Université de Sherbrooke, Sherbrooke, Québec, Canada
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  • Peter S. Herman
    Affiliations
    Départements de Chirurgie, Médecine, Pédiatrie et Pathologie, Faculté de Médecine, Université de Sherbrooke, Sherbrooke, Québec, Canada
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      Abstract

      Twelve patients, 5 from the same family, diagnosed consecutively to suffer from tuberous sclerosis were investigated for gastrointestinal polyps. Six patients had no clinical neurologic involvement. Nine had colonic polyps: in 5 patients, these were hamartomas, in 3 patients adenomatous polyps, and the ninth patient had hamartomas and adenomatous and villoglandular polyps. Hamartomatous polyps were identical to those found in the Peutz-Jeghers syndrome. However, in 1 patient they included neural structures and in another there were angiomatous and adipous structures in addition to colitis cystica profunda. Two patients with hamartomatous polyps had normal intelligence and no clinical neurologic symptoms. The evaluation of one kindred revealed the association of hamartomatous polyps of the colon with forme fruste of tuberous sclerosis in different members, but none had the typical disease. Tuberous sclerosis should thus be considered in the differential diagnosis of hamartomatous colonic polyps. Conversely, colonic endoscopy may be a useful adjunctive test in the diagnosis of tuberous sclerosis, particularly in the incomplete varieties of disease.

      References

        • Schmitt J
        Visceral aspects of the phacomatoses.
        in: Handbook of clinical neurology. Volume 14. Elsevier Publishing Company, New York1972
        • Fryer AE
        • Connor JM
        • Povey S
        • et al.
        Evidence that the gene for tuberous sclerosis is on chromosome 9.
        Lancet. 1987; ii: 659-661
        • Weenink HR
        • Bruyn GW
        An unusual case of tuberous sclerosis.
        Eur Neurol. 1970; 3: 241-255
        • Paulson GW
        • Lyle CB
        Tuberous sclerosis.
        Dev Med Child Neurol. 1966; 8: 571-586
        • Gomez MR
        Tuberous sclerosis.
        Raven, New York1979
        • Sailer J
        Hypertrophic nodular gliosis.
        J Nerv Ment Dis. 1898; 25: 402-440
        • Bohm F
        Ein Beitrag zur tuberösen Sklerose.
        Prog Med Wochenschr. 1913; 38: 329-333
        • Bohm F
        Ein Beitrag zur tuberösen Sklerose.
        Prog Med Wochenschr. 1913; 38: 350-353
        • Kawamura R
        Ein Fall mit mehreren Gewebsmissibildungen darunter eine Pankreasmissibildung.
        Zentralbl Allg Pathol Anat. 1913; 24: 801-808
        • Berg H
        Vererbung der tuberösen Sklerose durch Zweibei Drei Generationen.
        Zamte Ges, Neurol Psychiat. 1913; 19: 528-539
        • Feriz H
        Ein Beitrag zur Histopathologies der tuberösen Sklerose.
        Virchows Arch Pathol Anat. 1930; 278: 690-769
        • Fischer W
        Uber die Tumoren bei der tuberösen Hirnsklerose.
        Zentralb Allg Pathol Anat. 1954; 92: 241-249
        • Salustri E
        Contributo alla conoscenza di una non comune lesione delia sclerosi tuberosa: la miomatosis delle tenie del colon.
        Arch Ital Anat Istol Pathol. 1954; 28: 487-503
        • Schmitt J
        Les formes viscérales des phacomatoses.
        G. Doin, Paris1959
        • Morson BC
        • Dawson IMP
        Gastrointestinal pathology.
        Blackwell Scientific, Oxford, London, Edinburgh, Melbourne1974
        • Donnelly WH
        • Sieber WK
        • Yunis EJ
        Polypoid ganglio-neurofibromatosis of the large bowel.
        Arch Pathol. 1969; 87: 537-541
        • Schimke RN
        • Hartmann WH
        • Prout TE
        • Rimoin DL
        Syndrome of bilateral pheochromocytoma, medullary thyroid carcinoma and multiple neuromas: a possible regulatory defect in the differentiation of chromaffin tissue.
        N Engl J Med. 1968; 279: 1-7
        • Carney JA
        • Hayles AB
        Alimentary tract manifestations of multiple endocrine neoplasia type 2b.
        in: Mayo Clin Proc. 52. 1977: 543-548
        • Weinstock JV
        • Kawanishi H
        Gastrointestinal polyposis with orocutaneous hamartomas (Cowden's disease).
        Gastroenterology. 1978; 74: 890-895
        • Haberland C
        • Perou M
        Glioma with nuclear inclusions in tuberous sclerosis.
        Acta Neuropathol (Berl). 1970; 16: 73-76