Clinical characteristics and genetic analysis of two cases of pseudohypoparathyroidism type Ⅰa with early-onset skin nodules as the diagnostic clue
10.35541/cjd.20190088
- VernacularTitle:以早发性皮肤结节为诊断线索的假性甲状旁腺功能减退Ⅰa型二例临床特点和基因分析
- Author:
Yunling LI
1
;
Huiwen ZHENG
;
Yin LI
;
Kun ZHU
;
Weizhong GU
;
Wei LI
;
Xiaoxuan GUO
;
Chunlan HUANG
;
Sha ZHOU
;
Wei WU
;
Guanping DONG
Author Information
1. 浙江大学医学院附属儿童医院皮肤科
- Keywords:
Pseudohypoparathyroidism;
Cholecalciferol;
DNA mutational analysis;
Skin manifestations;
GNAS gene
- From:
Chinese Journal of Dermatology
2020;53(3):220-222
- CountryChina
- Language:Chinese
-
Abstract:
Clinical features of and genetic mutations in two cases of pseudohypoparathyroidism type Ⅰ a(PHP Ⅰ a) with early-onset skin nodules were analyzed.Both of the two patients were males,and their ages at onset were 2 and 3 months respectively.They both presented with early-onset skin nodules as the main clinical manifestation,and were clinically characterized by a round face,short neck and early obesity.Histopathological examination of skin lesions showed subcutaneous ectopic osteogenesis in both patients.The first patient had low blood calcium,high blood phosphorus,high parathyroid hormone (PTH),and gene sequencing showed a heterozygous mutation c.399delT causing a T base deletion at position 399 in exon 5 of the GNAS gene.The second patient had normal blood calcium and phosphorus levels as well as normal PTH levels at early stage,and gene sequencing showed a heterozygous mutation c.939delT causing a T base deletion at position 939 in exon 9 of the GNAS gene.The blood PTH level was found to increase in the second patient after 1-year follow-up.Both the patients were confirmedly diagnosed with PHP Ⅰa.After treatment with vitamin D3,no new skin nodules occurred,and the blood calcium and phosphorus levels returned to normal.
