A cutaneous disease with multisystem involvement: hypomelanosis of Ito may be associated with proteinuria, focal segmental glomerulosclerosis and end-stage renal disease

Abstract

bradycardia, where nitroglycerine may not be suitable [1]. Although coronary artery spasm is diagnosed by angiography using provocative drugs like Acetylcholine and Ergonovine, an exercise test following hyperventilation is an equivalent non-invasive test to diagnose this condition [2]. Thus, a negative provocative stress test ruled out the possibility of vasospastic angina in this patient. The Naranjo probability score confirmed an adverse drug reaction (Score 6) [3]. There is no previous association of iron sucrose with coronary vasospasm. In the Fenton and Haber-Weiss reaction, free metal ions like iron facilitate the production of toxic hydroxyl radicals from superoxide radicals [4], which can inhibit the synthesis of prostacyclin, influencing vessel tone [5]. This is a probable explanation for coronary spasm precipitated by the drug in our patient. The use of iron sucrose has addressed issues of anaphylaxis and infection to a large extent. Recommendation for higher doses and its good tolerability reduces the visits for iron treatment. However, it rarely poses potential hazards, the possibility of coronary artery spasm being one such complication. Conflict of interest statement. None declared.

Glomerulocystic kidney disease in hypomelanosis of Ito

“…Altogether, four patients with kidney disease associated with HMI have been reported [6][7][8][9]. Of these, two cases corresponded to primary glomerular lesions, including nonspecific abnormalities of the glomerular basement membrane and associated with proteinuria in one case, and focal glomerular sclerosis lesions leading to end-stage renal failure in a second case [6,9].…”

Hypomelanosis of Ito

“…These can include congenital heart defects, such as Fallot's tetralogy, atrial or ventricular septal defects, and kidney anomalies including single kidney or ureteral duplication, focal segmental glomerulosclerosis with end-stage renal disease, ureteral and renal agenesis, horseshoe kidneys, bilateral urethras duplication, renal tubular acidosis, and glomerulocystic kidney disease. 149,150 Cryptorchidism, micropenis or macrogenitosomia, hypospadias, and vaginal skin tags have been also reported. [151][152][153] Asymmetric breast development, gynecomastia in either boys or prepubertal girls, and precocious puberty have all been reported.…”

Investigação citogenética em indivíduos com mosaico pigmentar do tipo Ito

“…O fenótipo pode ser determinado pela origem parental de genes autossomos, geralmente em casos de translocação X/autossomo balanceada, o material do cromossomo translocado é mais comumente de origem paterna (5,55). Esse é outro possível mecanismo de expressão desbalanceada de genes que pode levar à alteração pigmentar (56).…”