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Nephrol Dial Transplant (2001) 16: 1267-1269
© 2001 European Renal Association-European Dialysis and Transplant Association

Case Report

Kidney disease in hypomelanosis of Ito

Richard J. M. Coward1,, R. Anthony Risdon2, Coralie Bingham3, Andrew T. Hattersley3 and Adrian S. Woolf1

1 Nephro-Urology and 2 Histopathology Units, Institute of Child Health, London and 3 Department of Vascular Medicine and Diabetes Research, School of Postgraduate Medicine and Health Sciences, University of Exeter, Exeter, UK

Keywords: cyst; glomerulus; hepatocyte nuclear factor 1ß; hypomelanosis of Ito; kidney disease



   Introduction
 
Hypomelanosis of Ito (Mendelian Inheritance in Man (MIM) #146150) is a neuroectodermal syndrome, estimated to occur in 1 in 10000 new patients presenting to general paediatricians [1]. It usually occurs sporadically but is occasionally inherited in a dominant manner. The key sign consists of macular hypopigmented skin lesions presenting by 2 years after birth in 90% of patients. The rash can occur unilaterally or bilaterally, in whorls, streaks or patches. Neurological involvement occurs in most patients, varying from mild learning difficulties to seizures caused by neural migration defects. Musculoskeletal involvement occurs in 40–60% with scoliosis, thoracic abnormalities and hemihypertrophy recognised features. Ocular and dental defects are also described [1].

These clinical features have been considered to be caused by chromosomal or genetic mosaicism, with diverse underlying aberrations, including translocations between the X chromosome and autosomes [1]. Hence ‘hypomelanosis of Ito’ represents a collection of . . . [Full Text of this Article]



   Case
 


   Discussion
 


   Acknowledgments
 


   Notes
 


   References
 

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 Nephrol Dial TransplantHome page
N. Gatter, B. Hoppe, F. Nutzenadel, R. Waldherr, and U. Querfeld
A cutaneous disease with multisystem involvement: hypomelanosis of Ito may be associated with proteinuria, focal segmental glomerulosclerosis and end-stage renal disease
Nephrol. Dial. Transplant., June 1, 2007; 22(6): 1796 - 1798.
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