Yu Hyeoh Won, Cho Won Im, Chung Hye Rim, Choi Keun Hee, Yun Sumi, Cho Hwan Seong, Shin Choong Ho, Yang Sei Won
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Korea.
Ann Pediatr Endocrinol Metab. 2016 Mar;21(1):47-50. doi: 10.6065/apem.2016.21.1.47. Epub 2016 Mar 31.
Adrenocorticotropin-independent adrenal hyperplasias are rare diseases, which are classified into macronodular (>1 cm) and micronodular (≤1 cm) hyperplasia. Micronodular adrenal hyperplasia is subdivided into primary pigmented adrenocortical disease and a limited or nonpigmented form 'micronodular adrenocortical disease (MAD)', although considerable morphological and genetic overlap is observed between the 2 groups. We present an unusual case of a 44-month-old girl who was diagnosed with Cushing syndrome due to MAD. She had presented with spotty pigmentation on her oral mucosa, lips and conjunctivae and was diagnosed with multiple bone tumors in her femur, pelvis and skull base at the age of 8 years. Her bone tumor biopsies were compatible with osteoblastoma. This case highlights the importance of verifying the clinicopathologic correlation in Cushing syndrome and careful follow-up and screening for associated diseases.
促肾上腺皮质激素非依赖性肾上腺增生是罕见疾病,分为大结节性(>1 cm)和小结节性(≤1 cm)增生。小结节性肾上腺增生又细分为原发性色素沉着性肾上腺皮质病和一种局限性或无色素沉着形式的“小结节性肾上腺皮质病(MAD)”,尽管在这两组之间观察到相当多的形态学和遗传学重叠。我们报告一例44个月大女孩的罕见病例,她因MAD被诊断为库欣综合征。她曾出现口腔黏膜、嘴唇和结膜上的散在色素沉着,并在8岁时被诊断出股骨、骨盆和颅底有多处骨肿瘤。她的骨肿瘤活检结果与成骨细胞瘤相符。该病例强调了在库欣综合征中验证临床病理相关性以及对相关疾病进行仔细随访和筛查的重要性。