中国麻风皮肤病杂志 ›› 2024, Vol. 40 ›› Issue (1): 48-50.doi: 10.12144/zgmfskin202401048

• 病例报告 • 上一篇    下一篇

以下肢皮肤骨瘤为首发症状的Albright综合征一例

张婷玮,李东宁,张晓岚,刘璐瑶   

  1. 锦州医科大学附属第一医院皮肤科，辽宁锦州，121001
  • 出版日期:2024-01-15 发布日期:2023-12-25

Albright syndrome with cutaneous osteoma of the lower limbs as the first symptom: a case report

ZHANG Tingwei, LI Dongning, ZHANG Xiaofeng, LIU Luyao   

  1. Department of Dermatology, The First Affiliated Hospital of Jinzhou Medical University, Jinzhou 121001, China
  • Online:2024-01-15 Published:2023-12-25

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摘要： 患儿，女，1岁6个月。右下肢多发性皮下丘疹1年余。皮损组织病理示: 表皮未见异常，真皮及皮下组织周围可见分化成熟的骨组织、骨细胞。小儿为低出生体重儿，生长发育障碍并伴有甲状旁腺素升高。诊断:Albright 遗传性骨营养不良。

关键词: Albright综合征, 下肢皮肤骨瘤, GNAS1基因

Abstract: A 6-month-old infant presented with multiple subcutaneous papules on the right lower limb for more than 1 year. Histopathology showed no abnormalities in the epidermis, and differentiated mature bone tissue and bone cells around the dermis and subcutaneous tissue. Children are low birth weight children with growth and development disorders and elevated PTH. The diagnosis of Albright hereditary osteodystrophy was made.

Key words: Albright syndrome, cutaneous osteoma of the lower limbs, the GNAS1 gene