[1]许凤丽,熊霞,徐基祥,等.Albright遗传性骨营养不良1例[J].中国皮肤性病学杂志,2019,(06):691-693.[doi:10.13735/j.cjdv.1001-7089.201810094]
 XU Fengli,XIONG Xia,XU Jixiang,et al.A Case of Albright Hereditary Osteodystrophy[J].The Chinese Journal of Dermatovenereology,2019,(06):691-693.[doi:10.13735/j.cjdv.1001-7089.201810094]
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Albright遗传性骨营养不良1例
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《中国皮肤性病学杂志》[ISSN:1001-7089/CN:61-1197/R]

卷:
期数:
2019年06期
页码:
691-693
栏目:
病例报告
出版日期:
2019-05-16

文章信息/Info

Title:
A Case of Albright Hereditary Osteodystrophy
文章编号:
1001-7089(2019)06-0691-03
作者:
许凤丽熊霞徐基祥邓永琼
西南医科大学附属医院皮肤科,四川 泸州 646000
Author(s):
XU FengliXIONG XiaXU JixiangDENG Yongqiong
(Department of Dermatology,the Affiliated Hospital of Southwest Medical University,Luzhou 646000,China)
关键词:
原发性皮肤骨瘤 GNAS基因
Keywords:
Primarycutaneous osteoma GNAS gene
分类号:
R 758.5
DOI:
10.13735/j.cjdv.1001-7089.201810094
文献标志码:
B
摘要:
患儿男,3岁,腹部多处皮下硬块7个月余。皮损组织病理示:表皮正常,真皮及皮下脂肪组织周围可见分化成熟的骨组织,骨组织内可见骨细胞。患儿智力发育迟缓,血磷升高。诊断:Albright遗传性骨营养不良。
Abstract:
A 3-year-old child presented with subcutaneous nodules in the abdomen for more than seven months.Histopathological examination showed normal epidermis,and the mature bone tissue in the dermis and subcutaneous adipose.Bone cells also could be found.The patient had mental retardation and increased serum phosphorus.Diagnosis of Albright hereditary osteodystrophy was made.

参考文献/References:


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[3] Sarathi V,Patil A,Wade R,et al.Intraarticular heterotopic ossification as the initial manifestation in a child with pseudohy-poparathyroidism 1a[J].Indian J Pediatr,2011,78(6):745-748.
[4] 郑瑞芝,赵志刚,汪艳芳,等.假性甲状旁腺功能减退症Ⅰa型遗传学研究-附一家系报告[J].中华内分泌代谢杂志,2012,28(8):647-649.
[5] Jeong KH,Lew BL,Sim WY.Osteoma cutis as the presenting feature of albright hereditary osteodystrophy associated with pseudopseudohypoparathyroidism[J].Ann Dermatol,2009,21(2):154-158.
[6] Salemi P,Skalamera Olson JM,Dickson LE.Ossifications in albright hereditary osteodystrophy:role of genotype,inheritance,sex,age,hormonal Status,and BMI[J].J Clin Endocrinol Metab,2018,103(1):158-168.
[7] Arefzadeh A,Khalighinejad P,Ataeinia B.Brachydactyly mental retardation syndrome with growth hormone deficiency[J].Endocrinol Diabetes Metab Case Rep,2018,2018,pii:18-68.
[8] Lin MH,Numbenjapon N,Germain-Lee EL.Progressive osseous heteroplasia,as an isolated entity or overlapping with Albright hereditary osteodystrophy[J].J Pediatr Endocrinol Metab,2015,28(7-8):911-918.
[9] Adegbite NS,Xu M,Kaplan FS,et al.Diagnostic and mutational spectrum of progressive osseous heteroplasia(POH)and other forms of GNAS-based heterotopic ossification[J].Am J Med Genet A,2008,146A:1788-1796.

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备注/Memo

备注/Memo:
[作者单位] 西南医科大学附属医院皮肤科,四川 泸州 646000
[通讯作者] 邓永琼,E-mail:dengyongqiong1@126.com
更新日期/Last Update: 2019-05-16