Sukkhojaiwaratkul Dabuswinee, Mahachoklertwattana Pat, Poomthavorn Preamrudee
Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
J Paediatr Child Health. 2014 Jul;50(7):566-9. doi: 10.1111/jpc.12472. Epub 2013 Dec 23.
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.
表皮痣综合征（ENS）是一种罕见的先天性疾病。其特征为表皮痣以及多器官异常，包括中枢神经系统、骨骼、心血管和泌尿生殖系统及眼睛。与低磷性佝偻病相关的ENS鲜有报道。我们报告一名46个月大的女孩，她表现出低磷性佝偻病的典型特征。皮肤检查发现其躯干、面部和双臂有多个黑素细胞痣，双侧腋窝和颈部有疣状斑块，背部沿布拉斯科线有黄色斑块。皮肤病变的组织病理学与表皮痣和皮脂腺痣相符。因此，诊断为ENS。除了典型的佝偻病外，骨骼X线检查有趣地显示右股骨、胫骨和腓骨有纤维结构不良样病变。低磷性佝偻病采用阿法骨化醇和磷酸盐溶液治疗。治疗3个月后，低磷性佝偻病的临床改善明显。治疗5个月后她的血液化学指标恢复正常。总之，低磷性佝偻病是ENS的一种罕见表现。我们的患者还表现出另一种异常的骨骼表现，即与佝偻病改变相关的纤维结构不良样病变。这突出了这种疾病的异质性以及对ENS患者进行全面评估的重要性。
