Short stature and growth hormone deficiency in a girl with encephalocraniocutaneous lipomatosis and Jaffe-Campanacci syndrome: a case report.
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 levo-dihydroxyphenylalanine tests, GH deficiency was confirmed. We present a case of GH deficiency with typical features of ECCL and JCS.
Department of Pediatrics, Keimyung University Dongsan Medical Center, Keimyung University School of Medicine, Daegu, Korea.
Eun Mi
EM
Choi
Department of Pediatrics, Keimyung University Dongsan Medical Center, Keimyung University School of Medicine, Daegu, Korea.
Nani
N
Jung
Department of Pediatrics, Keimyung University Dongsan Medical Center, Keimyung University School of Medicine, Daegu, Korea.
Ye Jee
YJ
Shim
Department of Pediatrics, Keimyung University Dongsan Medical Center, Keimyung University School of Medicine, Daegu, Korea.
Hee Joung
HJ
Choi
Department of Pediatrics, Keimyung University Dongsan Medical Center, Keimyung University School of Medicine, Daegu, Korea.
Joon Sik
JS
Kim
Department of Pediatrics, Keimyung University Dongsan Medical Center, Keimyung University School of Medicine, Daegu, Korea.
Heung Sik
0000-0002-2937-0844
HS
Kim
Department of Orthopedics, Keimyung University Dongsan Medical Center, Keimyung University School of Medicine, Daegu, Korea.
Kwang Soon
KS
Song
Department of Radiology, Keimyung University Dongsan Medical Center, Keimyung University School of Medicine, Daegu, Korea.
Hee Jung
HJ
Lee
Department of Pathology, Keimyung University Dongsan Medical Center, Keimyung University School of Medicine, Daegu, Korea.
Sang Pyo
SP
Kim
Encephalocraniocutaneous lipomatosis; Growth hormone deficiency; Jaffe-Campanacci syndrome