renal involvement in epidermolysis bullosa simplex: an unusual presentation
TRANSCRIPT
SCIENTIFIC LETTER TO THE EDITOR
Renal Involvement in Epidermolysis Bullosa Simplex:An Unusual Presentation
K. N. Harikrishnan & Sriram Krishnamurthy &
Nachiappa Ganesh Rajesh & Subramanian Mahadevan
Received: 2 May 2012 /Accepted: 8 October 2012# Dr. K C Chaudhuri Foundation 2012
To the Editor: Epidermolysis bullosa (EB) includes a het-erogeneous group of congenital, hereditary blistering disor-ders [1]. There are few reports of its association with renaldysfunction. We report a case of epidermolysis bullosasimplex (EBS) with persistent proteinuria detected to haveIgA nephropathy on renal biopsy.
A 4-y- old developmentally normal boy born to consan-guineous parents, who was diagnosed to have EBS in theneonatal period, developed anasarca since 1 wk. There washistory of two similar episodes of edema with proteinuria,treated with diuretics elsewhere. He did not have nail, hairor mucosal surface involvement. He had past history of recur-rent pus discharge from the bullous lesions, resolving withcloxacillin. Examination revealed multiple flaccid bullae,some with purulent discharge and post-inflammatory hyper-pigmentation. There were no areas of scarring. The child hadproteinuria (2+; urine protein: creatinine ratio 0.5) with mi-croscopic hematuria. Blood urea was 35 mg/dL, serum creat-inine 0.7 mg/dL, serum cholesterol 167 mg/dL, serum
albumin 3.1 g/dL; Anti-streptolysin O and C3 levels werenormal. Skin biopsy revealed subepidermal bulla with Lam-inin 5 staining expression (Fig. 1). Ultrasound showed normalrenal system. Histopathological examination and immunoflu-orescence of the renal biopsy showed IgA nephropathy withmesangioproliferative glomerulonephritis (Fig. 1). Treatmentwith enalapril led to improvement in proteinuria over 3 mo(urine protein: creatinine ratio 0.23).
EB has 4 major variants: EBS, junctional EB [JEB], dom-inant dystrophic EB [DDEB], and recessive dystrophic EB[RDEB] [1]. Our patient had clinical (absence of scarring ;non-involvement of nails or mucosal surfaces) and histopath-ological evidence of EBS. Laminin-5 expression is absent inJEB [2]. Renal dysfunction in EB, may be due to skin infec-tions leading to poststreptococcal glomerulonephritis, IgAmesangiopathy or amyloidosis [3]. There is paucity in litera-ture of EB in association with IgA nephropathy, with RDEB,DDEB and JEB subtypes reported previously [2, 4, 5]. Ourpatient had a different variant (EBS). Although intuitively,
K. N. Harikrishnan : S. Krishnamurthy (*) : S. MahadevanDepartment of Pediatrics, Jawaharlal Institute of PostgraduateMedical Education and Research (JIPMER), Dhanvantari Nagar,Pondicherry 605006, Indiae-mail: [email protected]
N. G. RajeshDepartment of Pathology, Jawaharlal Institute of PostgraduateMedical Education and Research (JIPMER), Dhanvantari Nagar,Pondicherry 605006, India
Indian J PediatrDOI 10.1007/s12098-012-0907-5
EBS, complicated by skin infections, could lead to IgA ne-phropathy; there are no such previous reports. Through thisreport, we emphasize that IgA nephropathy should be consid-ered in the differential diagnosis of EBS complicated byproteinuria, in order to institute prompt therapeutic strategies.
References
1. Intong LR, Murrell DF. Inherited epidermolysis bullosa: new diag-nostic criteria and classification. Clin Dermatol. 2012;30:70–7.
2. Hata D, Miyazaki M, Seto S, et al. Nephrotic syndrome and aberrantexpression of laminin isoforms in glomerular basement membranesfor an infant with Herlitz junctional epidermolysis bullosa. Pediatrics.2005;116:e601–7.
3. Kaneko K, Kakuta M, Ohtomo Y, et al. Renal amyloidosis inrecessive dystrophic epidermolysis bullosa. Dermatology. 2000;200:209–12.
4. Kawasaki Y, Isome M, Takano K, et al. IgA nephropathy in a patientwith dominant dystrophic epidermolysis bullosa. Tohoku J Exp Med.2008;214:297–301.
5. Tammaro F, Calabrese R, Aceto G, et al. End-stage renaldisease secondary to IgA nephropathy in recessive dystrophicepidermolysis bullosa: a case report. Pediatr Nephrol. 2008;23:141–4.
Fig. 1 (a) Section showssubepidermal bulla with noevidence of inflammation.Hematoxylin and Eosin stain,× 400 ; (b) Section showspositivity for Laminin in theroof of the blister,Immunohistochemistry withDAB chromogen, × 400; (c)Section shows diffusemesangial expansion andproliferation in the glomerulus,Hematoxylin and Eosin stain,× 400; (d) Section showsdeposition of IgA in theglomerular capillaries andmesangium, FITC, × 100
Indian J Pediatr