Publication: Epidermal nevus syndrome with hypophosphatemic rickets in a young girl
Issued Date
2014-01-01
Resource Type
ISSN
14401754
10344810
10344810
Other identifier(s)
2-s2.0-84904044732
Rights
Mahidol University
Rights Holder(s)
SCOPUS
Bibliographic Citation
Journal of Paediatrics and Child Health. Vol.50, No.7 (2014), 566-569
Suggested Citation
Dabuswinee Sukkhojaiwaratkul, Pat Mahachoklertwattana, Preamrudee Poomthavorn Epidermal nevus syndrome with hypophosphatemic rickets in a young girl. Journal of Paediatrics and Child Health. Vol.50, No.7 (2014), 566-569. doi:10.1111/jpc.12472 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/34423
Research Projects
Organizational Units
Authors
Journal Issue
Thesis
Title
Epidermal nevus syndrome with hypophosphatemic rickets in a young girl
Other Contributor(s)
Abstract
Epidermal nevus syndrome (ENS) is a rare congenital disorder. It is characterised by epidermal nevi and abnormalities of multiple organs, including central nervous system, skeleton, cardiovascular and genitourinary systems and eyes. Hypophosphatemic rickets-associated ENS has rarely been reported. We report a 46-month-old girl who presented with a classical feature of hypophosphatemic rickets. Examination of skin revealed multiple melanocytic nevi at her trunk, face and both arms with verrucous plaques at both axillae and neck, and yellow plaques at the back along Blaschko's lines. Histopathology of the skin lesions was compatible with epidermal nevi and nevus sebaceous. Therefore, the diagnosis of ENS was made. Apart from typical rickets, the skeletal X-rays interestingly displayed fibrous dysplasia-like lesions along right femur, tibia and fibula. Hypophosphatemic rickets was treated with alfacalcidol and phosphate solution. After 3 months of treatment, clinical improvement of hypophosphatemic rickets was clearly demonstrated. Her blood chemistries were normalised at 5 months following the treatment. In conclusion, hypophosphatemic rickets is a rare presentation of ENS. Our patient also demonstrated an additional abnormal bone finding, fibrous dysplasia-like lesions, associated with rachitic changes. This highlights heterogeneity of this condition and importance of thorough evaluation of patients with ENS. © 2013 The Authors. Journal of Paediatrics and Child Health © 2013 Paediatrics and Child Health Division (Royal Australasian College of Physicians).