15Aug 2017

HYPOPHOSPHATEMIC RICKETS, EPIDERMAL NEVUS SYNDROME WITH SKELETAL CHANGES: A CASE REPORT.

  • MBBS, Intern at Faculty of Medicine at King Abdulaziz University, Jeddah, Saudi Arabia, P.O.BOX. 80215.
  • MBBS, DCH, CABP, FRCPCH, Professor of Pediatric Endocrinology, King Abdulaziz University Hospital, Pediatric Department, P.O.BOX 80215, Jeddah 21589, Saudi Arabia.
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Epidermal nevus syndrome is a rare, sporadic, congenital disorder, characterized by epidermal nevi, associated with multiple organ anomalies and skeletal changes. However, hypophosphatemic rickets-associated ENS is rarely reported. Thus, we report an 11-year-old girl with hypophosphatemic rickets and extensive linear nevi associated with a large checkerboard-speckled lentiginous nevus. Skeletal changes were characterized with severe osteoporosis, multiple recurrent low-trauma fractures, cystic lesions along the right femur, limbs discrepancies with deformities, short middle finger, and hemiatrophy.


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[Elaf Alzarnougi and Abdulmoein Eid Al-Agha. (2017); HYPOPHOSPHATEMIC RICKETS, EPIDERMAL NEVUS SYNDROME WITH SKELETAL CHANGES: A CASE REPORT. Int. J. of Adv. Res. 5 (Aug). 982-987] (ISSN 2320-5407). www.journalijar.com


Elaf Alzarnougi
King Abdulaziz University Hospital

DOI:


Article DOI: 10.21474/IJAR01/5145      
DOI URL: http://dx.doi.org/10.21474/IJAR01/5145