DOAJ Open Access 2023

HYPERTROPHIC OSTEOARTHROPATHY IN A PATIENT WITH HETEROZYGOUS MUTATION IN THE SLCO2A1 GENE: A CASE REPORT

Ilke Coskun Benlidayi Kubra Tuncer Tunay Sarpel

Abstrak

Hypertrophic osteoarthropathy (HOA) is a condition characterized by aberrant skin and osseous tissue proliferation in the distal extremities. Mutations in the 15-hydroxyprostaglandin dehydrogenase gene (HPGD) and the soluble carrier organic anion carrier family member 2A1 gene (SLCO2A1) were associated with primary HOA. Secondary HOA, which is also called as 'hypertrophic pulmonary osteoarthropathy' is responsible for 95-97% of cases. Herein, we present a 19-year-old female patient with primary HOA and heterozygous mutation in the SLCO2A1 gene.

Topik & Kata Kunci

Medical philosophy. Medical ethics

Penulis (3)

Ilke Coskun Benlidayi

Kubra Tuncer

Tunay Sarpel

Format Sitasi

APA MLA BibTeX

Benlidayi, I.C., Tuncer, K., Sarpel, T. (2023). HYPERTROPHIC OSTEOARTHROPATHY IN A PATIENT WITH HETEROZYGOUS MUTATION IN THE SLCO2A1 GENE: A CASE REPORT. https://doi.org/10.47316/cajmhe.2023.4.3.03

Akses Cepat

PDF tidak tersedia langsung

Cek di sumber asli →

Lihat di Sumber doi.org/10.47316/cajmhe.2023.4.3.03

Informasi Jurnal

Tahun Terbit: 2023
Sumber Database: DOAJ
DOI: 10.47316/cajmhe.2023.4.3.03
Akses: Open Access ✓