Phytosteroidemia presenting as necrobiotic xanthogranuloma clinicopathologic and molecular genetic analysis of 4 cases
10.13315/j.cnki.cjcep.2025.06.012
- VernacularTitle:以渐进坏死性黄色肉芽肿为主要表现的植物固醇血症4例临床病理及分子遗传学分析
- Author:
Chaohang LU
1
;
Yiyun SHENG
;
Jie LIU
;
Yusen QIU
;
Yuan ZHAN
;
Hongping WAN
Author Information
1. 南昌大学第一附属医院病理科,南昌 330006;江西中医药大学附属医院病理科,南昌 330006
- Publication Type:Journal Article
- Keywords:
phytosterolemia;
necrobiotic xanthogranuloma;
thrombocytopenia;
abnormal ery-throcytes;
splenomegaly;
gene mutation
- From:
Chinese Journal of Clinical and Experimental Pathology
2025;41(6):771-775,781
- CountryChina
- Language:Chinese
-
Abstract:
Purpose To explore the clinicopathological and molecular genetic features of phytosterolemia(PTSL)with necrobiotic xanthogranuloma.Methods 4 cases of PTSL with necrobiotic xanthogranuloma as the primary mani-festation were reviewed.Gene mutations were detected by whole-exome sequencing and screened and verified by Sanger sequencing.The clinical manifestations,laboratory tests,genetic testing results,treatment and prognoses of the pa-tients were analyzed.Results All 4 patients developed subcutaneous masses on the face over a period of 3-13 years.Case 4 showed weakness of both lower limbs and an intracranial mass on MRI.Blood smear analysis revealed that the patients had platelets of varying sizes and were generally large,with increased stomatocytes.Total cholesterol(6.9-11.36 mmol/L)and low-density lipoprotein(4.45-7.08 mmol/L)were elevated in 4 patients.Genetic analysis re-vealed that cases 2 and 4 carried heterozygous mutations in the ABCG5 gene,and case 3 had a homozygous mutation in the ABCG8 gene.Conclusion Thrombocytopenia,stomatocytosis and splenomegaly are the special clinical manifesta-tions of patients with PTSL,and necrobiotic xanthogranuloma may be one of the late manifestations of the disease.Early genetic testing plays a critical role in the timely diagnosis and management of PTSL.
