45 American Scientific Research Journal for Engineering, Technology, and Sciences (ASRJETS) ISSN (Print) 2313-4410, ISSN (Online) 2313-4402 © Global Society of Scientific Research and Researchers http://asrjetsjournal.org/ Renal Abnormalities During Calcinosis Primary Tumor Richard Loumingou a *, Ida Aurélie Lenga Loumingou b a Nephrologist, 1 boulevard Auxence Ickonga, Brazzaville 242, Congo b Dermatologist, 1 boulevard Auxence Ickonga, Brazzaville 242, Country a Email: richardloumingou@gmail.com b Email: idalengaloumingou@gmail.com Abstract Primary tumour calcinosis is a rare condition of unknown etiopathogeny. They are transmitted in an autosomal dominant or recessive mode and predominate in the black race. Calcinoses are manifested by hydroxyapathite deposits in the dermis or hypodermis. The authors report an observation of primary tumour calcinosis associated with renal abnormalities and staturoweight retardation in an 11-year-old child. Keywords: Renal abnormalities; tumor calcinosis; child. 1. Introduction Tumourous calcinosis is a rare condition that affects black adolescents or adults [1]. There are several types of tumor calcinosis and their nosology is not well defined. Tumor calcinosis can be primary or secondary, isolated or associated with other conditions [23]. The characteristic feature of tumour calcinosis is the dermal or hypodermal deposition of hydroxyapathite. Primary tumour calcinosis is described as TEUSCHLANDER's lipocalcinogranulomatosis with associated metabolic disorders [5]. The authors report a case of tumour calcinosis associated with renal abnormalities in an 11-year-old child. 2. Observation An 11-year-old black boy was admitted to a dermatology consultation at Brazzaville University Hospital for diffuse hypopigmented macules associated with a diffuse, predominantly acral skin sclerosis that had been evolving for 6 years. ------------------------------------------------------------------------ * Corresponding author. American Scientific Research Journal for Engineering, Technology, and Sciences (ASRJETS) (2020) Volume 67, No 1, pp 45-47 46 The general condition was preserved, he was not mentally retarded, his height was 1.28m, weighed 26 Kilos, a standard deviation of -3. The interrogation had been regaining the notion for 2 - 3 months of thirst, of abundant urination. Blood pressure was 80/60 mmHg. The examination found voluminous masses evolving over the last 5 years from 2 to 10 cm in diameter at the hips, knees, elbows and at the upper 1/3 of the right leg, of firm consistency, some ulcerated pseudoguminous masses with an inhomogeneous whitish and chalky background. The paraclinical assessment showed: blood glucose 1g/l, positive glycosuria, creatinine 6mg/l, low serum calcium 78 mg/l, low phosphorus 20 mg/l, kalaemia 3 mmol/l, natraemia 134 mmol/l, low proteinuria 0.23 g/24h (9 mg/kg/d). Calciuria was elevated above 0.1 mmol/Kg/24h as was phosphaturia, diuresis at 2.3 l/24h. Standard radiography of the pelvis showed multiple calcifications (photo). The diagnosis of lipocalcino granulomatosis was suggested to be associated with proximal tubalopathy and staturoweight retardation. 3. Discussion Tumor calcinosis or lipocalcino granulomatosis is a rare, benign condition characterized by the deposition of calcium material in extra-articular soft tissues in tumor form [5]. It may be primary or secondary to chronic renal failure. Heredity is found in 30% of cases. Transmission is autosomal recessive or dominant according to the authors with variable penetrance [7]. Three types of mutations have been identified, one affecting fibroblast growth factor 23 (FGF23) [8], the second affecting the phosphaturic hormone and glycosyl transferase GALT3 and the phosphatemic form linked to the SAM D9 gene [8,9]. Disturbances in phosphate metabolism may accompany some tumor calcinosis [10]. Hyperphosphatemia is the rule [11,12], often secondary to chronic renal failure and hyperparathyroidism. The hypophosphatemia and hyperphosphatemia found in our observation are unusual. The existence of normo-glycemic glycosuria, hypercalciuria and hypocalcemia are evidence of an associated proximal aublopatia. Is this an incidental association of tumour calcinosis and proximal tubulopathy or an unusual type of mutation? Staturoponderal retardation has never been described in classical forms of tumour calcinosis. It is a manifestation of the hydroeletrolytic disorders associated with proximal tubulopathy. Our observation is unusual because of the coexistence of staturoweight retardation and tumour calcinosis. The occurrence of proximal tubulopathy is paradoxical in the course of tumour calcinosis; it may be related to an exceptional form or may be the translation of an unknown underlying hereditary pathology. We haven't found any link to a sickle cell trait. Hemoglobin electrophoresis was normal. Our limited means of investigation did not allow us to investigate genetics. 4. Conclusion This observation illustrates the rarity of the association of tumour calcinosis and proximal tubulopathy with staturoweight retardation. Exhaustive genetic and metabolic investigations are essential for a better etiopathogenic and therapeutic approach. The relevant or fortuitous link of this association remains to be determined. 5. Conflict of interest None. American Scientific Research Journal for Engineering, Technology, and Sciences (ASRJETS) (2020) Volume 67, No 1, pp 45-47 47 Reference [1]. I. Fathie, M. Sakr. “Review of tumoral calcinoses : A rare clinico-pathological entity”. World J Clin cases, vol.2 (9), pp.409 – 414, 2014 Sept 16. [2]. TS. Benchekroun, BS. Benjenlloun, M. Jorio Bekhraba, A. El Makitazi. “La calcinose tumorale à propos d’un cas avec revue de la littérature.” Médecine du Maghreb, n°76, 1999. [3]. J. El Maghraoui, M. Hammou, N. Kabbali, M. Arrayhani, TS. Houssaini. “Improvement of tumoral calcinosis of the right hand after parathyroidectomy in a patient on chronic hemodialysis”. Pan Afr Med J, vol.24, pp.30, 2016 Mai. [4]. N. Chaouch, M. Mjid, M. Zarrouck et al. “Un syndrome d’ERASMUS avec des masses pseudo tumorales”. Revue des maladies respiratoires, vol.28 (7), pp.924 – 927, 2011 Sept. [5]. A. Sparsa. “Calcinoses, ossification et lesion cartilagineuses cutanées”. EMC Dermatologie, 98 – 730 – A – 10, 2007. [6]. M. Rifi, A. Kharmaz, A. Bouchida et al. “Calcinose tumorale de la région trochantérienne : A propos d’un cas et revue de la littérature”. Rev Maroc Chi. Orthop Traumato, vol.34, pp.48 – 50, 2008. [7]. HI. Garringer, SM. Mortazavi, F. Este Ghamat and al. “Two novel GAINTZ mutations in familial tumoral calcinosis”. Ann J Med Genet A, vol.143, pp.2390 – 2396, 2007. [8]. M. Hori, Y. Shimizu, S. Fukumoto. “Minireview : Fibroblast grouth factor 23 in phosphate homeostasis and bone metabolism”. Endocrinology, vol.152, pp.4 – 10, 2011. [9]. O. Topaz, N. Indelman, I. Chefetz et al. “A deleterious mutationin SAMD9 causes normophosphatemic familial tumoral calcinosis”. Ann J Hum Genet, vol.79, pp.759 – 764, 2006. [10]. D. Fries, PH. Druet. “Renal tubular disorders. Pathology, diagnosis and management.” Maladies rénales Herman Ed. pp.217, 1999. [11]. AG. Gomez, A. De la Fuente Silva, R. Gonzalez Magana, and al. “Hyperphosphatemic tumoral calcinosis in pediatrics : Case report”. Bol Med Hosp Infant Mex, vol.71 (3), pp.167 – 173, 2014. [12]. S. Mahadevan, B. Adhisivam, CN. Kumar. “ Tumoral calcinosis with hyperphosphatémia”. Indian J Pediatric, vol.72, pp.889 – 90, 2005.