KIDNEY DISEASES 416 Iranian Journal of Kidney Diseases | Volume 10 | Number 6 | November 2016 Case Report Diffuse Mesangial Sclerosis in a Child With Dyskeratosis Congenita Leading to End-stage Renal Disease Kamel Abidi, 1 Taha Sayari, 1 Manel Jallouli, 1 Yousra Hammi, 1 Rim Goucha Louzir, 2 Tahar Gargah 1 Dyskeratosis congenita (DC) is a very rare inherited disorder. It is caused by dysfunction of telomere maintenance. It involves RNA telomerase components relevant to various mutations leading to a classic triad of physical findings consisting of nail dystrophy of the hands and feet, mucosal leukoplakia, and reticular pigmentation of the skin, most commonly on the head, neck, and trunk. Bone marrow failure along with pulmonary complications and malignancies are all common causes of premature death in patients with DC as well as other abnormalities. We report a new case of DC with impure nephrotic syndrome relevant to histopathologic signs of a diffuse mesangial sclerosis, leading to an early end-stage renal disease. Challenges remain to understand the diverse spectrum of DC especially in children. To the best of our knowledge this is the first case of DC associated to diffuse mesangial sclerosis. IJKD 2016;10:416-8 www.ijkd.org 1 Nephropediatric Department, Charles Nicolle Hospital, Tunisia 2 Internal Medicine Department, Charles Nicolle Hospital, Tunisia Keywords. dyskeratosis congenital, end-stage renal disease, nephrotic syndrome INTRODUCTION Dyskeratosis congenita (DC) is an inherited ectodermal disease first described in 1960 as Zinsser- Engmann-Cole syndrome. 1 It is a rare disease caused by telomere shortening related to a dysfunction in a regulatory protein “shelterin” by mutation of one of its components, dyskerin causing a wide spectrum of diseases apostrophized commonly by mucocutaneous signs, which are nail dystrophy, reticulate skin pigmentation over the trunk and neck, leukoplakia, and hematological signs mainly cytopenia or multivisceral abnormalities. 2,3 Life expectancy ranges from infancy to well into the 7th decade. Up to 40% of patients will have bone marrow failure by the age of 40. 4 Major causes of morbidity include bone marrow failure, cancer, and visceral complications, mainly pulmonary fibrosis. We report a case of DC with impure nephrotic syndrome relevant to histopathologic signs of a diffuse mesangial sclerosis, leading to an early end-stage renal disease. CASE REPORT An 8-year-old boy, originally from Tunisia, born at term from consanguine parents of the second degree, with a personal history of cow’s milk protein allergy (immunoglobulin E mediated) and lymphocytic meningitis at 5 months and bullous impetigo at 8 months. He was referred to pediatric department for nephrotic syndrome. Hypochromic cutaneous spots have been noticed and reported to be lasting since the age of 9 months. Dysmorphic features were noted, including broad and bulging forehead, low implanted ears, hypertelorism, dental malposition with multiple caries, a bilateral genuvalgum, deviation of the radial axis, skin xerosis, photosensitivity, hyperpigmentation balled with healthy skin areas of the face and trunk, a reticulated appearance in the limbs, erythrocyanosis of both feet, diffuse alopecia of the scalp, and longitudinal hyperstriation of fingernails. We noted edema of the lower limbs. Routine blood tests showed a normal blood cell count, a total serum