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.
Crossref Cited-by Linking logo
  • Abstract
  • Keywords
  • References
  • Cite This Article as
  • Corresponding Author

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.


  1. Aschinberg, Lorenzo C, Lawrence M Solomon, Petros M Zeis, Parvin Justice, and Ira M Rosenthal. 1977. ?Vitamin D-Resistant Rickets Associated with Epidermal Nevus Syndrome : Demonstration of a Phosphaturic Substance in the Dermal Lesions? 91 (1): 56?60.
  2. Cruz, Helena Vidaurri-de, Lourdes Tamayo-s?nchez, Carola Dur?n-mckinster, Mar?a De Luz Orozco-covarrubias, and Ram?n Ruiz-maldonado. 2004. ?Epidermal Nevus Syndromes : Clinical Findings in 35 Patients? 21 (4): 432?39.
  3. Dermatologia, Morais Avallon, Dayane Shinzato, Hospital Oftalmol, Hans-filho Universidade Federal, Mato Grosso, and Literature Review View. 2013. ?Phacomatosis Pigmentokeratotica--a Patient with Hypophosphatemic Rickets,? no. August 2017.
  4. Gamayunov, Boris N, Nikolay G Korotkiy, and Elena E Baranova. 2016. ?Phacomatosis Pigmentokeratotica or the Schimmelpenning- Feuerstein-Mims Syndrome ?,? 1?4. doi:10.1002/ccr3.570.
  5. Heike, Carrie L, Michael L Cunningham, Robert D Steiner, Deborah Wenkert, Robin L Hornung, Joseph S Gruss, Francis H Gannon, William H Mcalister, Steven Mumm, and Michael P Whyte. 2005. ?Skeletal Changes in Epidermal Nevus Syndrome : Does Focal Bone Disease Harbor Clues Concerning Pathogenesis ?? 77 (June): 67?77. doi:10.1002/ajmg.a.
  6. Hoffman, William H, Harald W Jueppner, Barry R Deyoung, M Sue O Dorisio, and Keena S Given. 2005. ?Rapid Publication Elevated Fibroblast Growth Factor-23 in Hypophosphatemic Linear Nevus Sebaceous Syndrome? 236 (December 2004): 233?36. doi:10.1002/ajmg.a.30599.
  7. Jellinek, E H. 2003. ?Babington?s Aphasia? Overcoming Left Hemisphere Trauma.?
  8. Moreira, Ana Isabel, Gra?a Ferreira, Mafalda Santos, Armando Baptista, and Eduarda Os?rio Ferreira. 2017. ?Letter : Epidermal Nevus Syndrome Associated with Hypophosphatemic Rickets,? 6?8.
  9. Report, Case. 2003. ?Schimmelpenning-Feuerstein-Mims Syndrome with Hypophosphatemic Rickets,? 72?76. doi:10.1159/000070948.
  10. Rogers, Maureen. 2000. ?Epidermal Nevi and the Epidermal Nevus Syndromes : A Review of 233 Cases,? no. 4: 342?45.
  11. Sukkhojaiwaratkul, Dabuswinee, Pat Mahachoklertwattana, and Preamrudee Poomthavorn. 2014. ?INSTRUCTIVE CASE Epidermal Nevus Syndrome with Hypophosphatemic Rickets in a Young Girl? 50: 566?69. doi:10.1111/jpc.12472.
  12. Tadini, Gianluca, Lucia Restano, Ricardo Gonza, M Antonia Gonza, M Asuncio, Stefano Cambiaghi, Paolo Marchettini, Massimo Mastrangelo, and Rudolf Happle. 1998. ?Phacomatosis Pigmentokeratotica? 134: 333?37.
?

[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


Share this article