Neurol. pro Praxi, 2003; 6: 319-323

Integrita centrálneho a periférneho nervového systému pri juvenilnej hyalínovej fibromatóze

MUDr. Dušan Trstenský1, doc. MUDr. Egon Kurča Ph.D1, MUDr. Jozef Michalik1, MUDr. Milan R. Voško PhD1, MUDr. Ema Kantorová1, doc. MUDr. Adamicová Katarína PhD2, doc. MUDr. Fetisovová Želmíra PhD3
1 Neurologická klinika JLF UK a MFN, Martin
2 Ústav patologickej anatómie JLF UK a MFN, Martin
3 Dermatovenerologická klinika JLF UK a MFN, Martin

Published: December 31, 2003  Show citation

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Trstenský D, Kurča E, Michalik J, Voško MR, Kantorová E, Katarína A, Želmíra F. Integrita centrálneho a periférneho nervového systému pri juvenilnej hyalínovej fibromatóze. Neurol. praxi. 2003;4(6):319-323.

Úvod: Juvenilná hyalínová fibromatóza (JHF) je zriedkavé autozómovo recesívne dedičné ochorenie charakterizované prítomnosťou mnohopočetných subkutánnych nodulárnych tumorov, gingiválnou hypertrofiou, flekčnými kontraktúrami končatín a osteolytickými léziami kostí. V niektorých prípadoch je ako príznak JHF taktiež uvedená mentálna retardácia. Vo svete bolo doteraz opísaných približne 70 prípadov ochorenia. Práca, v ktorej by sa autori podrobne zaoberali možným poškodením nervového systému pri JHF, nebola v dostupnej literatúre uverejnená.

Metodika a výsledky: 38-ročný pacient s JHF (diagnóza stanovená na základe klinického nálezu a typického histopatologického obrazu tkaniva excidovaného z tumorov) absolvoval klinické neurologické vyšetrenie, psychologické vyšetrenie, vybrané zobrazovacie vyšetrenia nervového systému (CT a MR mozgu) a vybrané funkčné vyšetrenia nervového systému (99Tc HMPAO SPECT, EEG, VEP, BAEP, SEP nervus ulnaris, EMG, urodynamické vyšetrenie). Všetky vykonané vyšetrenia nepotvrdili presvedčivé poškodenie centrálneho a periférneho nervového systému podmienené JHF.

Záver: Zníženie intelektových schopností pacienta pripisujeme dlhotrvajúcemu deficitu primeraných podnetov z vonkajšieho prostredia (sociálna izolácia, deprivácia vzdelania). Kontraktúry a hypotrofie svalov sú dôsledkom primárneho poškodenia väzivových a kostných štruktúr. Pripúšťame iba ľahké iritačné poškodenie vybraných nervov na základe tlakového mechanizmu v určitých polohách pri uvedených muskuloskeletálnych deformitách.

Kľúčové slová

juvenilná hyalínová fibromatóza, hereditárne ochorenia spojivového tkaniva, nervový systém.

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    LMm_References

    1. Adamicová K, Fetisovová Ž, Mellová Y, Statelová D, Mišovicová N, Poláček H, Huťka Z, Péč J. Juvenilná hyalínová fibromatóza. Bratisl Lek Listy 1998; 99: 587-596. Go to PubMed...
    2. Aldred MJ, Crawford PJ. Juvenile hyaline fibromatosis. Oral Surg Med 1987; 63: 71-77. Go to original source... Go to PubMed...
    3. Caputo R, Gelmetti C. Juvenile hyaline fibromatosis. In: Pierini A., Garcia Diaz R., Bustamante R. eds. Pediatric dermatology. Amsterdam: Elsevier Science, 1995: 231-232.
    4. Drescher E, Woyke S, Markiewicz C. Juvenile fibromatosis in siblings (fibromatosis hyalina multiplex juvenilis). J Pediatr Surg 1967; 26: 427-430. Go to original source...
    5. Fetisovova Z, Adamicova K, Pec M, Mellova Y, Chromej I, Pec J. Dermatological findings in an adult patient with juvenile hyaline fibromatosis. J Eur Acad Dermatol Venereol. 2003; 17 (4): 473-476. Go to original source... Go to PubMed...
    6. Finlay AY, Ferguson SD. Holt PJA. Juvenile hyaline fibromatosis. Brit J Dermatol 1983, 218: 609-616. Go to original source... Go to PubMed...
    7. Glover MT, Lake BD, Atherton DJ. Infantile systemic hyalinosis: newly recognised disorder of collagen? Pediatrics 1991; 87: 228-234. Go to PubMed...
    8. Glover MT, Lake BD, Atherton DJ. Clinical, histologic and ultrastructural findings in two cases of infantile systemic hyalinosis. Pediatr Dematol 1992; 9: 255-258. Go to original source... Go to PubMed...
    9. Haleem A, Al-Hindi HN, Juboury MA, Husseini HA, Ajlan AA. Juvenile hyaline fibromatosis: morphologic, immunohistochemical, and ultrastructural study of three siblings. Am J Dermatopathol 2002 Jun; 24 (3): 218-224. Go to original source... Go to PubMed...
    10. Hanks S, Adams S, Douglas J, et al. Mutations in the Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis. Am J Hum Genet, 2003, PubMed, v tlači. Go to original source... Go to PubMed...
    11. Iwata S, Horiuchi R, Maeda H, Ishikawa H. Systemic hyalinosis or juvenile hyaline fibromatosis. Ultra - structural and biochemical study of cultured skin fibroblasts. Arch Dermatol Res 1980, 267: 115. Go to original source... Go to PubMed...
    12. Jacyk W., Wentzel L. Juvenile hyaline fibromatosis in two South African black children. Int J Dermatol 1996; 35: 740-742. Go to original source... Go to PubMed...
    13. Kan AE, Rogers M. Juvenile hyaline fibromatosis: An expanded clinicopathologic spectrum. Pediatr Dermatol 1989, 6: 68-75. Go to original source... Go to PubMed...
    14. Kayashima KI, Katagiri K, Shinkai H, Ono T. Is juvenile hyaline fibromatosis a disease of type VI collagenosis? In: Ishibashi Y, Nakagawa H, Suzuki H, eds. Electron microscopy in dermatology - basic and clinical research. Amsterdam: Elsevier Science. 1994: 329-334.
    15. Keser G, Karabalut B, Oksel F, Calli C, Ustun EE, Akalin T, Kocanaogullari H, Gumusdis G, Doganavsargil E. Two siblings with juvenile hyaline fibromatosis: Case reports and review of the literature. Clin Rheumatol 1999; 18: 248-252. Go to original source... Go to PubMed...
    16. Kitano Y. Juvenile hyaline fibromatosis. Arch Dermatol 1976; 112: 86-88. Go to original source... Go to PubMed...
    17. Larralde M, Santos-Munos A, Calb I, Magarinos C. Juvenile Hyaline Fibromatosis. Pediatric Dermatology 2001; 18: 400-402. Go to original source... Go to PubMed...
    18. Lubec B, Steinert I, Breier F, et al. Skin collagen defects in a patient with juvenile hyaline fibromatosis. Arch Dis Child 1995; 73: 246-248. Go to original source... Go to PubMed...
    19. Mancini GMS, Stojanov L, Willmesen R, Kleijer WJ, Huijmans JGM, van Diggelen OP, de Klerk JBC, Vuzevski VD, Oranje AP. Juvenile Hylaine Fibromatosis: Clinical Heterogenity in Three Patients. Dermatology 1999; 198: 18-25. Go to original source... Go to PubMed...
    20. McKee PH. Pathology of the skin. London - Wiesbaden, Mosby - Wolfe 1996: 1714s.
    21. Prapanpoch S, Jorgenson RJ, Langlais RP, Nummikoski PV. Winchester syndrome: a case report and literature review. Oral Surg Oral Med Oral Pathol 1992; 74: 671-677. Go to original source... Go to PubMed...
    22. Rahman N, Dunstan M, Teare MD, Hanks S, Edkins SJ, Hughes J, Bignell GR, Mancini G, Kleijer W, Campbell M, Keser G, Black C, Williams N, Arbour L, Warman M, Superti-Furga A, Futreal AP, Pope FM. The gene for juvenile hyaline fibromatosis maps to chromosome 4q21. Am J Hum Genet 2002; 71: 975-980. Go to original source... Go to PubMed...
    23. Sahn EE, Salinas CF, Sens MA, Key J, Swiger FK, Holbrook KA. Infantile systemic hyalinosis in a black infant. Pediatr Deramtol 1994; 11: 52-60. Go to original source... Go to PubMed...
    24. Senzaki H, Kiyozuka Y, Uemura Y, Shikata N, Ueda S. and Tsubara A. Juvenile hyaline fibromatosis: A report of two unrelated adult sibling cases and a literature review. Pathology International 1998, 48: 230-236. Go to original source... Go to PubMed...
    25. Schaller M, Stnegel-Rutkowski S, Sollberg S, Kind P. Juvenile hyaline fibromatose. Hausartz 1997; 47: 235-257. Go to original source... Go to PubMed...
    26. Woyke S, Domagala W, Markiewicz C. A 19-year follow - up of multiple juvenile hyaline fibromatosis. J Pediatr Surg 1984; 19: 302-304. Go to original source... Go to PubMed...

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