A Case of Pseudohypoparathyroidism With Unusual Presentation and Novel Genetic Mutation.

Authors

Reem Al-Amri, Ziad A Taher, Rawan A Alnajashi, Atheer A Alqurashi, Hend Al-Zanbaqi

Published in

Cureus. Volume 18. Issue 6. Pages e111078. Epub Jun 18, 2026.

Abstract

Pseudohypoparathyroidism is a really rare inherited disorder characterized by either unresponsiveness or targeted organ resistance to the parathyroid hormone, classified either biochemically or by phenotype characteristics. Here, we report an atypical presentation of Albright hereditary osteodystrophy. An underweight 18-year-old male presented with painful subcutaneous nodules that progressively appeared over a period of 10 years and were confirmed by fine needle aspiration, and the pathology report indicated osteoma cutis.

PMID:
42472131
Bibliographic data and abstract were imported from PubMed on 19 Jul 2026.

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