Short stature and growth hormone deficiency in a girl with encephalocraniocutaneous lipomatosis and Jaffe-Campanacci syndrome: a case report

다국어 초록 (Multilingual Abstract)

A 9-year-old Tajikistani girl presented to Keimyung University Dongsan Medical Center for evaluation of a skin lesion on her left eyelid, focal alopecia, unilateral ventricular dilatation, and aortic coarctation. She was diagnosed with encephalocraniocutaneous lipomatosis (ECCL) according to Moog’s diagnostic criteria. Café-au-lait spots were found on the left side of her trunk. Multiple nonossifying fibromas were found on her left proximal humerus, left distal femur, both proximal tibias, and left proximal fibula, suggesting Jaffe-Campanacci syndrome (JCS), following imaging of the extremities. Many JCS cases with multiple Café-au-lait macules, multiple nonossifying fibromas may actually have Neurofibromatosis type-1 (NF1). Thus, comprehensive molecular analysis to exclude NF1 mutation was performed using her blood sample. The NF1 mutation was not found. Her height was under the 3rd percentile and her bone age was delayed as compared with her chronological age. Baseline growth hormone (GH) level was below the normal range. Using the insulin stimulation and levodihydroxyphenylalanine tests, GH deficiency was confirmed. We present a case of GH deficiency with typical features of ECCL and JCS.

참고문헌 (Reference)

1 Ahmed I, "Neurocutaneous melanosis in association with encephalocraniocutaneous lipomatosis" 47 (47): S196-S200, 2002

2 Campanacci M, "Multiple non-ossifying fibromata with extraskeletal anomalies: a new syndrome?" 65 : 627-632, 1983

3 Cherix S, "Multiple non-ossifying fibromas as a cause of pathological femoral fracture in Jaffe-Campanacci syndrome" 15 : 218-, 2014

4 Hau MA, "JaffeCampanacci syndrome. A case report and review of the literature" 84-A : 634-638, 2002

5 Stewart DR, "Jaffe-Campanacci syndrome, revisited:detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder" 16 : 448-459, 2014

6 Chandravanshi SL, "Encephalocraniocutaneous lipomatosis:a case report and review of the literature" 62 : 622-627, 2014

7 Gokhale NR, "Encephalocraniocutaneous lipomatosis: a rare neurocutaneous syndrome" 73 : 40-42, 2007

8 Radić Nišević J, "Encephalocraniocutaneous lipomatosis without ocular malformations" 60 : 71-74, 2016

9 Banta J, "Encephalocraniocutaneous lipomatosis (Haberland syndrome): a mild case with bilateral cutaneous and ocular involvement" 2 : 150-152, 2016

10 Sharifi M, "Encephalocraniocutaneous lipomatosis (Fishman syndrome): a rare neurocutaneous syndrome" 28 : 155-158, 2016

11 Moog U, "Encephalocraniocutaneous lipomatosis" 46 : 721-729, 2009

12 김대훈, "Encephalocraniocutaneous Lipomatosis without Neurologic Anomalies" 대한피부과학회 24 (24): 476-478, 2012