Unusual coexistence between lupus nephritis and neurofibromatosis 1: a case report and review of previous cases

Manoj Kumar Roy, Rajdeep Basu, Jotideb Mukhopadhyay, Rajat Choudhuri

Abstract


The association of Neurofibromatosis 1 (NF 1), an autosomal dominant genetic disease with autoimmune diseases like systemic lupus erythematosus is rare, five case reports are there in medical literature showing such association. Here we have documented a case of Lupus nephritis associated with Neurofibromatosis 1 diagnosed in the same setting, in a 24 years old female patient presented with oliguria, hypertension, anasarca, cafe-au-lait spots, palmer freckling, subcutaneous nodules, alopecia areata and positive family history for NF 1.


Keywords


Systemic lupus erythematosus, Lupus nephritis, Neurofibromatosis 1, Neurofibromin

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References


University of South Carolina School of Medicine. Lecture notes, immunology, hypersensitivity reactions. General discussion of hypersensitivity, not specific to SLE, 2010. Available at: Pathmicro.med.sc.edu. Accessed 6 August 2011.

Blank M, Shoenfeld Y, Perl A. Crosstalk of the environment with the host genome and the immune system through endogenous retroviruses in systemic lupus erythematosus. Lupus. 2009 Nov;18(13):1136-43.

Dooley MA. Clinical and laboratory features of lupus nephritis. In: Wallace DJ, Hahn BH, eds. Dubois’ Lupus Erythematosus. 7th ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2007: 1112-1130.

Marga Lammert, Jan M. Friedman, Lan Kluwe, Victor F. Mautner. Prevalence of neurofibromatosis 1 in German children at Elementary school Enrollment. Arch Dermatol. 2005;141(1):71-4.

Petri M, Orbai AM, Alarcón GS, Gordon C, Merrill JT, Fortin PR, et al. Derivation and validation of SLICC classification criteria for systemic lupus erythematosus. Artharitis Rheum. 2012 Aug;64(8):2677-86.

Grande JP, Balow JE. Renal biopsy in lupus nephritis. Lupus. 1998;7:611-7.

Anonymous. Neurofibromatosis. NIH Consens Statement. 1987 Jul;6(12):1-19.

Premalatha S. A study of palmer dermatoglyphics and palmer freckles. Indian J Dermatol Venerol Leprol. 1995;61:11-5.

Bitnun S, Bassan H. Letter: neurofibromatosis and SLE. N Engl J Med. 1975;292:429-30.

Bassan HM, Bitnun S. Systemic lupus erythematosus and neurofibromatosis. Int J Dermatol. 1976;15:36-7.

Riccardi VM. Neurofibromatosis in a patient with systemic lupus erythematosus. Arthritis Rheum. 1983;26:574.

Corominas H, Guardolia JM, Matas L, Vazquez G. Neurofibromatosis and systemic lupus erythematosus. A matter of coincidence? Clin Rheumatol. 2003;22:496-7.

Akyüz SG, Çaltik A, Bülbül M, Erdogan Ö, Renda R, Demircin G. An unusual pediatric case with neurofibromatosis and systemic lupus erythematosus. Rheumatol Int. 2012;53:227-49.

Cawthon RM, Weiss R, Xu G, Viskochil D, Culver M, Stevens J, et al. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell. 1990;62:193-201.

Wallace MR, Marchuk DA, Andersen LB, Letcher R, Odeh HM, Saulino AM, et al. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science. 1990;249:181-6.

Andersen LB, Ballester R, Marchuk DA, Chang E, Gutmann DH, Saulino AM, et al. A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity. Mol Cell Biol. 1993;13:487-95.

Ingram DA, Yang FC, Travers JB, Wenning MJ, Hiatt K, New S, et al. Genetic and biochemical evidence that haploinsufficiency of the Nf1 tumor suppressor gene modulates melanocyte and mast cell fates in vivo. J Exp Med. 2000;191:181-8.

Kim TJ, Cariappa A, Iacomini J, Tang M, Shih S, Bernards A, et al. Defective proliferative responses in B lymphocytes and thymocytes that lack neurofibromin. Mol Immunol. 2002;38:701-8.

Ingram DA, Zhang L, McCarthy J, Wenning MJ, Fisher L, Yang FC, et al. Lymphoproliferative defects in mice lacking the expression of neurofibromin: functional and biochemical consequences of Nf1 deficiency in T-cell development and function. Blood. 2002;100:3656-62.