Case Report
Copyright ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Feb 6, 2020; 8(3): 587-593
Published online Feb 6, 2020. doi: 10.12998/wjcc.v8.i3.587
Cutaneous nodules and a novel GNAS mutation in a Chinese boy with pseudohypoparathyroidism type Ia: A case report and review of literature
Yun-Ling Li, Ting Han, Fang Hong
Yun-Ling Li, Department of Dermatology, The Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, Zhejiang Province, China
Ting Han, Department of Children’s Health Care, The Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, Zhejiang Province, China
Fang Hong, Department of Genetics and Metabolism, The Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, Zhejiang Province, China
Author contributions: Li YL treated the patient’s dermatological problems, reviewed the literature, and contributed to manuscript drafting; Han T reviewed the literature and contributed to manuscript drafting; Fang H treated the patient's endocrinological problems and contributed to manuscript drafting; all authors approved the version of the manuscript to be submitted.
Supported by the Department of Education of Zhejiang Province, No. Y201738451; Health and Family Planning Commission of Zhejiang Province, No. 2016148438.
Informed consent statement: Written informed consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Fang Hong, PhD, Chief Physician, Director, Department of Genetics and Metabolism, The Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, 3333 Bingsheng Road, Hangzhou 310052, Zhejiang Province, China. 6193008@zju.edu.cn
Received: November 30, 2019
Peer-review started: November 30, 2019
First decision: December 11, 2019
Revised: January 3, 2020
Accepted: January 8, 2020
Article in press: January 8, 2020
Published online: February 6, 2020
Processing time: 67 Days and 18.4 Hours
Abstract
BACKGROUND

Pseudohypoparathyroidism type Ia (PHP Ia) is a rare hereditary syndrome, and patients with early PHP Ia are generally not diagnosed based on the presentation of cutaneous nodules as the main clinical feature. Here, we describe a Chinese boy with PHP Ia in whom the main clinical feature was cutaneous nodules, and the patient exhibited a novel GNAS mutation.

CASE SUMMARY

A 5-year-old boy presented with a 5-year history of cutaneous nodules scattered over his entire body. The patient had a short stature, round face, short neck, and slightly flattened nose; he also had multiple hard papules and cutaneous nodules scattered over his entire body. The patient had a significantly elevated parathyroid hormone level. His serum calcium level was reduced, while his serum phosphorus level was increased and his serum thyroid-stimulating hormone level was elevated. Skin biopsy showed osteoma cutis in subcutaneous tissue. Sanger sequencing revealed a frameshift mutation, c.399delT (p.Ser133Argfs*2) in exon 5 of the GNAS gene. The patient was diagnosed with PHP Ia and subclinical hypothyroidism. He was given 1,25-dihydroxyvitamin D, calcium carbonate, and synthetic L-thyroxine. After 3 months of treatment, the patient’s parathyroid hormone level decreased, and his serum calcium and serum phosphorus levels were normal. Moreover, his thyroid-stimulating hormone level decreased.

CONCLUSION

These findings can help dermatologists to diagnose PHP Ia in patients with cutaneous nodules as the main early clinical feature.

Keywords: Pseudohypoparathyroidism type Ia; Cutaneous nodules; GNAS; Pseudohypoparathyroidism; Case report

Core tip: Herein, we describe a Chinese boy with pseudohypoparathyroidism type Ia who presented with multiple cutaneous nodules at an early stage and exhibited a c.399delT mutation in the GNAS gene. This mutation was not found in public databases, including Exome Aggregation Consortium, the Genome Aggregation Database, ClinVar, and the Human Gene Mutation Database. Therefore, we concluded that the c.399delT mutation in exon 5 of the GNAS gene was a novel mutation associated with pseudohypoparathyroidism type Ia.