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Genodermatoses

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Dermatological Manifestations of Kidney Disease

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Abstract

Inherited conditions affecting the skin and kidneys can often be diagnosed on the basis of characteristic cutaneous findings, which may be the presenting clinical manifestation of a given disease. Early recognition of these distinctive skin lesions can have a positive impact on patient monitoring, management, and prognosis. Herein, Fabry disease, tuberous sclerosis, Birt-Hogg-Dubé disease, and nail patella syndrome will be discussed with respect to epidemiology, genetics, cutaneous findings, renal manifestations, other systemic organ involvement, diagnosis, prognosis, and management.

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References

  1. Mohrenschlager M, Braun-Falco M, Ring J, Abeck D. Fabry disease: recognition and management of cutaneous manifestations. Am J Clin Dermatol. 2003;4(3):189–96.

    Article  PubMed  Google Scholar 

  2. Brady M, Montgomery E, Brennan P, Mohindra R, Sayer JA. Diagnosing Fabry disease—delays and difficulties within discordant siblings. QJM 2013.

    Google Scholar 

  3. Orteu CH, Jansen T, Lidove O, Jaussaud R, Hughes DA, Pintos-Morell G, et al. Fabry disease and the skin: data from FOS, the Fabry outcome survey. Br J Dermatol. 2007;157(2):331–7.

    Article  CAS  PubMed  Google Scholar 

  4. Weidemann F, Sommer C, Duning T, Lanzl I, Mohrenschlager M, Naleschinski D, et al. Department-related tasks and organ-targeted therapy in Fabry disease: an interdisciplinary challenge. Am J Med. 2010;123(7):658.e1–658.e10.

    Article  Google Scholar 

  5. Mehta A, Ricci R, Widmer U, Dehout F, Garcia de Lorenzo A, Kampmann C, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest. 2004;34(3):236–42.

    Article  CAS  PubMed  Google Scholar 

  6. Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003;138(4):338–46.

    Article  PubMed  Google Scholar 

  7. Clarke JT. Narrative review: Fabry disease. Ann Intern Med. 2007;146(6):425–33.

    Article  PubMed  Google Scholar 

  8. Zampetti A, Orteu CH, Antuzzi D, Bongiorno MR, Manco S, Gnarra M, et al. Angiokeratoma: decision-making aid for the diagnosis of Fabry disease. Br J Dermatol. 2012;166(4):712–20.

    Article  CAS  PubMed  Google Scholar 

  9. Larralde M, Boggio P, Amartino H, Chamoles N. Fabry disease: a study of 6 hemizygous men and 5 heterozygous women with emphasis on dermatologic manifestations. Arch Dermatol. 2004;140(12):1440–6.

    PubMed  Google Scholar 

  10. Choudhury S, Meehan S, Shin HT. Fabry disease: an atypical presentation. Pediatr Dermatol. 2005;22(4):334–7.

    Article  PubMed  Google Scholar 

  11. Hogarth V, Dhoat S, Mehta AB, Orteu CH. Late-onset Fabry disease associated with angiokeratoma of Fordyce and multiple cherry angiomas. Clin Exp Dermatol. 2011;36(5):506–8.

    Article  CAS  PubMed  Google Scholar 

  12. Mirceva V, Hein R, Ring J, Mohrenschlager M. A case of multiple angiomas without any angiokeratomas in a female heterozygote with Fabry disease. Australas J Dermatol. 2010;51(1):36–8.

    Article  PubMed  Google Scholar 

  13. Jansen T, Graue N, Dissemond J, Hillen U, Hentschke M, Grabbe S. Telangiectasias on the neck as a presenting cutaneous sign of Fabry disease. J Dermatol. 2006;33(9):652–4.

    Article  PubMed  Google Scholar 

  14. Nakai K, Yoneda K, Abe T, Moriue T, Matsuoka Y, Nibu N, et al. Multiple leg ulcers in a patient with Fabry disease. J Eur Acad Dermatol Venereol. 2008;22(3):382–3.

    Article  CAS  PubMed  Google Scholar 

  15. Amann-Vesti BR, Gitzelmann G, Widmer U, Bosshard NU, Steinmann B, Koppensteiner R. Severe lymphatic microangiopathy in Fabry disease. Lymphat Res Biol. 2003;1(3):185–9.

    Article  PubMed  Google Scholar 

  16. Wanner C, Oliveira JP, Ortiz A, Mauer M, Germain DP, Linthorst GE, et al. Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry. Clin J Am Soc Nephrol. 2010;5(12):2220–8.

    Article  PubMed Central  PubMed  Google Scholar 

  17. Terryn W, Cochat P, Froissart R, Ortiz A, Pirson Y, Poppe B, et al. Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice. Nephrol Dial Transplant. 2013;28(3):505–17.

    Article  PubMed  Google Scholar 

  18. Selvarajah M, Nicholls K, Hewitson TD, Becker GJ. Targeted urine microscopy in Anderson-Fabry disease: a cheap, sensitive and specific diagnostic technique. Nephrol Dial Transplant. 2011;26(10):3195–202.

    Article  PubMed  Google Scholar 

  19. Morrissey RP, Philip KJ, Schwarz ER. Cardiac abnormalities in Anderson-Fabry disease and Fabry’s cardiomyopathy. Cardiovasc J Afr. 2011;22(1):38–44.

    CAS  PubMed Central  PubMed  Google Scholar 

  20. Patel MR, Cecchi F, Cizmarik M, Kantola I, Linhart A, Nicholls K, et al. Cardiovascular events in patients with Fabry disease natural history data from the Fabry registry. J Am Coll Cardiol. 2011;57(9):1093–9.

    Article  PubMed  Google Scholar 

  21. Kampmann C, Baehner F, Ries M, Beck M. Cardiac involvement in Anderson-Fabry disease. J Am Soc Nephrol. 2002;13 Suppl 2:S147–9.

    PubMed  Google Scholar 

  22. Carubbi F, Bonilauri L. Fabry disease: raising awareness of the disease among physicians. Intern Emerg Med. 2012;7 Suppl 3:S227–31.

    Article  PubMed  Google Scholar 

  23. Low M, Nicholls K, Tubridy N, Hand P, Velakoulis D, Kiers L, et al. Neurology of Fabry disease. Intern Med J. 2007;37(7):436–47.

    Article  CAS  PubMed  Google Scholar 

  24. Laaksonen SM, Roytta M, Jaaskelainen SK, Kantola I, Penttinen M, Falck B. Neuropathic symptoms and findings in women with Fabry disease. Clin Neurophysiol. 2008;119(6):1365–72.

    Article  PubMed  Google Scholar 

  25. Sivley MD. Fabry disease: a review of ophthalmic and systemic manifestations. Optom Vis Sci. 2013;90(2):e63–78.

    Article  PubMed  Google Scholar 

  26. Mehta A, Beck M, Eyskens F, Feliciani C, Kantola I, Ramaswami U, et al. Fabry disease: a review of current management strategies. QJM. 2010;103(9):641–59.

    Article  CAS  PubMed  Google Scholar 

  27. Clarke JT, Iwanochko RM. Enzyme replacement therapy of Fabry disease. Mol Neurobiol. 2005;32(1):43–50.

    Article  CAS  PubMed  Google Scholar 

  28. Franz DN. Diagnosis and management of tuberous sclerosis complex. Semin Pediatr Neurol. 1998;5(4):253–68.

    Article  CAS  PubMed  Google Scholar 

  29. Schwartz RA, Fernandez G, Kotulska K, Jozwiak S. Tuberous sclerosis complex: advances in diagnosis, genetics, and management. J Am Acad Dermatol. 2007;57(2):189–202.

    Article  PubMed  Google Scholar 

  30. Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet. 2008;372(9639):657–68.

    Article  CAS  PubMed  Google Scholar 

  31. Umeoka S, Koyama T, Miki Y, Akai M, Tsutsui K, Togashi K. Pictorial review of tuberous sclerosis in various organs. Radiographics. 2008;28(7):e32.

    Article  PubMed  Google Scholar 

  32. Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med. 2006;355(13):1345–56.

    Article  CAS  PubMed  Google Scholar 

  33. Curatolo P, Moavero R. mTOR inhibitors in tuberous sclerosis complex. Curr Neuropharmacol. 2012;10(4):404–15.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  34. Leung AK, Robson WL. Tuberous sclerosis complex: a review. J Pediatr Health Care. 2007;21(2):108–14.

    Article  PubMed  Google Scholar 

  35. Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol. 1998;13(12):624–8.

    Article  CAS  PubMed  Google Scholar 

  36. Staley BA, Vail EA, Thiele EA. Tuberous sclerosis complex: diagnostic challenges, presenting symptoms, and commonly missed signs. Pediatrics. 2011;127(1):e117–25.

    Article  PubMed Central  PubMed  Google Scholar 

  37. Franz DN, Bissler JJ, McCormack FX. Tuberous sclerosis complex: neurological, renal and pulmonary manifestations. Neuropediatrics. 2010;41(5):199–208.

    Article  CAS  PubMed  Google Scholar 

  38. Holmes GL, Stafstrom CE, Tuberous Sclerosis Study Group. Tuberous sclerosis complex and epilepsy: recent developments and future challenges. Epilepsia. 2007;48(4):617–30.

    Article  PubMed  Google Scholar 

  39. Shepherd CW, Gomez MR, Lie JT, Crowson CS. Causes of death in patients with tuberous sclerosis. Mayo Clin Proc. 1991;66(8):792–6.

    Article  CAS  PubMed  Google Scholar 

  40. Koenig MK, Hebert AA, Roberson J, Samuels J, Slopis J, Woerner A, et al. Topical rapamycin therapy to alleviate the cutaneous manifestations of tuberous sclerosis complex: a double-blind, randomized, controlled trial to evaluate the safety and efficacy of topically applied rapamycin. Drugs R D. 2012;12(3):121–6.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  41. Schmidt LS. Birt-Hogg-Dubé syndrome: from gene discovery to molecularly targeted therapies. Fam Cancer. 2013;12:357–64.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  42. Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, et al. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol. 2009;10(12):1199–206.

    Article  CAS  PubMed  Google Scholar 

  43. Pavlovich CP, Walther MM, Eyler RA, Hewitt SM, Zbar B, Linehan WM, et al. Renal tumors in the Birt-Hogg-Dubé syndrome. Am J Surg Pathol. 2002;26(12):1542–52.

    Article  PubMed  Google Scholar 

  44. Stamatakis L, Metwalli AR, Middelton LA, Marston Linehan W. Diagnosis and management of BHD-associated kidney cancer. Fam Cancer. 2013;12(3):397–402.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  45. Verine J, Pluvinage A, Bousquet G, Lehmann-Che J, de Bazelaire C, Soufir N, et al. Hereditary renal cancer syndromes: an update of a systematic review. Eur Urol. 2010;58(5):701–10.

    Article  PubMed  Google Scholar 

  46. Baba M, Hong SB, Sharma N, Warren MB, Nickerson ML, Iwamatsu A, et al. Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. Proc Natl Acad Sci U S A. 2006;103(42):15552–7.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  47. Vincent A, Farley M, Chan E, James WD. Birt-Hogg-Dubé syndrome: a review of the literature and the differential diagnosis of firm facial papules. J Am Acad Dermatol. 2003;49(4):698–705.

    Article  PubMed  Google Scholar 

  48. Reese E, Sluzevich J, Kluijt I, Teertstra HJ, De Jong D, Horenblas S, et al. Birt-Hogg-Dubé syndrome. In: Riegert-Johnson DL, Boardman LA, Hefferon T, Roberts M, editors. Cancer syndromes. Bethesda, MD: Douglas L Riegert-Johnson; 2009.

    Google Scholar 

  49. Toro JR, Wei MH, Glenn GM, Weinreich M, Toure O, Vocke C, et al. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. J Med Genet. 2008;45(6):321–31.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  50. Houweling AC, Gijezen LM, Jonker MA, van Doorn MB, Oldenburg RA, van Spaendonck-Zwarts KY, et al. Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. Br J Cancer. 2011;105(12):1912–9.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  51. Welsch MJ, Krunic A, Medenica MM. Birt-Hogg-Dubé syndrome. Int J Dermatol. 2005;44(8):668–73.

    Article  PubMed  Google Scholar 

  52. Pavlovich CP, Grubb III RL, Hurley K, Glenn GM, Toro J, Schmidt LS, et al. Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome. J Urol. 2005;173(5):1482–6.

    Article  PubMed  Google Scholar 

  53. Zbar B, Alvord WG, Glenn G, Turner M, Pavlovich CP, Schmidt L, et al. Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome. Cancer Epidemiol Biomarkers Prev. 2002;11(4):393–400.

    PubMed  Google Scholar 

  54. Gupta N, Seyama K, McCormack FX. Pulmonary manifestations of Birt-Hogg-Dubé syndrome. Fam Cancer. 2013;12(3):387–96.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  55. Tomassetti S, Carloni A, Chilosi M, Maffe A, Ungari S, Sverzellati N, et al. Pulmonary features of Birt-Hogg-Dubé syndrome: cystic lesions and pulmonary histiocytoma. Respir Med. 2011;105(5):768–74.

    Article  CAS  PubMed  Google Scholar 

  56. Vernooij M, Claessens T, Luijten M, van Steensel MA, Coull BJ. Birt-Hogg-Dubé syndrome and the skin. Fam Cancer. 2013;12:381–5.

    Article  PubMed  Google Scholar 

  57. Bongers EM, Gubler MC, Knoers NV. Nail-patella syndrome. Overview on clinical and molecular findings. Pediatr Nephrol. 2002;17(9):703–12.

    Article  PubMed  Google Scholar 

  58. Beguiristain JL, de Rada PD, Barriga A. Nail-patella syndrome: long term evolution. J Pediatr Orthop B. 2003;12(1):13–6.

    Article  PubMed  Google Scholar 

  59. Lemley KV. Kidney disease in nail-patella syndrome. Pediatr Nephrol. 2009;24(12):2345–54.

    Article  PubMed Central  PubMed  Google Scholar 

  60. Sweeney E, Fryer A, Mountford R, Green A, McIntosh I. Nail patella syndrome: a review of the phenotype aided by developmental biology. J Med Genet. 2003;40(3):153–62.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  61. Mimiwati Z, Mackey DA, Craig JE, Mackinnon JR, Rait JL, Liebelt JE, et al. Nail-patella syndrome and its association with glaucoma: a review of eight families. Br J Ophthalmol. 2006;90(12):1505–9.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

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Author information

Authors and Affiliations

  1. Department of Dermatology, Virginia Commonwealth University, 401 N. 11th Street Suite 520, Richmond, VA, 23298, USA

    Erin L. Reese M.D.

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  1. Erin L. Reese M.D.
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Correspondence to Erin L. Reese M.D. .

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Editors and Affiliations

  1. Department of Dermatology, Nelson Clinic, Virginia Commonwealth University Medical Center, Richmond, Virginia, USA

    Julia R. Nunley

  2. Department of Medicine, Section of Nephrology, University of Illinois at Chicago / Advocate Christ Medical Center, Oak Lawn, Illinois, USA

    Edgar V. Lerma

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Reese, E.L. (2015). Genodermatoses. In: Nunley, J., Lerma, E. (eds) Dermatological Manifestations of Kidney Disease. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2395-3_1

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  • DOI: https://doi.org/10.1007/978-1-4939-2395-3_1

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