Pachydermoperiostosis Mimicking Acromegaly: a Rare Case Report in Sardjito General Hospital Yogyakarta Indonesia
DOI:
https://doi.org/10.58344/jws.v3i4.593Keywords:
Pachydermoperiostosis, Mimicking, AcromegalyAbstract
Pachydermoperiostosis is a genetic disorder characterized by pachydermia and periostosis. The clinical and radiological features of pachydermoperiostosis are similar to acromegaly. The Prevalence of pachydermoperiostosis is estimated 0.16%. The ratio of male-to-female incidence is 7 to 1. We report a man 26 years old with complaints of pain and swelling in the wrist joints, fingers, knee joints and ankle joints bilaterally; seborrheic dermatitis, eyelid ptosis, and thickening of facial skin, which has been progressive since he was 17 years old. Manus, genu and pedis x-ray results showed a features of mixed connective tissue disease. Magnetic resonance imaging result of the pituitary gland with contrast was normal. Laboratory results for growth hormone (GH) and insulin growth factor-1 (IGF-1) were normal. Histopathology results of the facial skin biopsy showed grade 1 pachydermia in pachydermoperiostosis. In conclusion, the appearance of pachydermia on skin biopsy, with normal growth hormone and insulin growth factor-1 results can differentiate pachydermoperiostosis from acromegaly.
References
Alessandrella, A., Della Casa, R., Alessio, M., Puente Prieto, J., Strisciuglio, P., & Melis, D. (2018). A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment. American Journal of Medical Genetics Part A, 176(5), 1253–1257.
Baykan, E. K., & Türky?lmaz, A. (2022). Differential diagnosis of acromegaly: pachydermoperiostosis two new cases from Turkey. Journal of Clinical Research in Pediatric Endocrinology, 14(3), 350.
Chanson, P., & Salenave, S. (2008). Acromegaly. Orphanet Journal of Rare Diseases, 3, 1–17.
Grasso, L. F. S., Cozzolino, A., Colao, A., Alexandraki, K. I., Kaltsas, G. A., Chrousos, G. P., Marco, F.-F., Giorgio, F., Rizzoli, P. B., & Utz and Sashank Prasad, A. L. (2013). Pituitary Disorders: Diagnosis and Management. In Complications of Pituitary Disease (Vol. 27, pp. 277–290). wiley-blackwell.
Guyot-Drouot, M.-H., Solau-Gervais, E., Cortet, B., Deprez, X., Chastanet, P., Cotten, A., Delcambre, B., & Flipo, R.-M. (2000). Rheumatologic manifestations of pachydermoperiostosis and preliminary experience with bisphosphonates. The Journal of Rheumatology, 27(10), 2418–2423.
Jiang, X., Renkema, H., Pennings, B., Pecheritsyna, S., Schoeman, J. C., Hankemeier, T., Smeitink, J., & Beyrath, J. (2021). Mechanism of action and potential applications of selective inhibition of microsomal prostaglandin E synthase-1-mediated PGE2 biosynthesis by sonlicromanol’s metabolite KH176m. Scientific Reports, 11(1), 880.
Laws, E. R., Scheithauer, B. W., Carpenter, S., Randall, R. V, & Abboud, C. F. (1985). The pathogenesis of acromegaly: clinical and immunocytochemical analysis in 75 patients. Journal of Neurosurgery, 63(1), 35–38.
Mangupli, R., Daly, A. F., Cuauro, E., Camperos, P., Krivoy, J., & Beckers, A. (2017). Primary hypertrophic osteoarthropathy due to a novel SLCO2A1 mutation masquerading as acromegaly. Endocrinology, Diabetes & Metabolism Case Reports, 2017(1).
Marques, P., Stelmachowska-Banas, M., Collier, D., Wernig, F., & Korbonits, M. (2020). Pachydermoperiostosis mimicking the acral abnormalities of acromegaly. Endocrine, 67, 499–500.
Nakanishi, T., Nakamura, Y., & Umeno, J. (2021). Recent advances in studies of SLCO2A1 as a key regulator of the delivery of prostaglandins to their sites of action. Pharmacology & Therapeutics, 223, 107803.
Oh, M. C., Tihan, T., Kunwar, S., Blevins, L., & Aghi, M. K. (2012). Clinical management of pituitary carcinomas. Neurosurgery Clinics of North America, 23(4), 595–606.
Pandey, P., Ojha, B. K., & Mahapatra, A. K. (2005). Pediatric pituitary adenoma: a series of 42 patients. Journal of Clinical Neuroscience, 12(2), 124–127.
Tanese, K., Niizeki, H., Seki, A., Otsuka, A., Kabashima, K., Kosaki, K., Kuwahara, M., Miyakawa, S., Miyasaka, M., & Matsuoka, K. (2015). Pathological characterization of pachydermia in pachydermoperiostosis. The Journal of Dermatology, 42(7), 710–714.
Uppal, S., Diggle, C. P., Carr, I. M., Fishwick, C. W. G., Ahmed, M., Ibrahim, G. H., Helliwell, P. S., Latos-Biele?ska, A., Phillips, S. E. V, & Markham, A. F. (2008). Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. Nature Genetics, 40(6), 789–793.
Zhang, H., & Yang, B. (2017). Successful treatment of pachydermoperiostosis patients with etoricoxib, aescin, and arthroscopic synovectomy: Two case reports. Medicine, 96(47), e8865.
Zhang, Z., Xia, W., He, J., Zhang, Z., Ke, Y., Yue, H., Wang, C., Zhang, H., Gu, J., & Hu, W. (2012). Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. The American Journal of Human Genetics, 90(1), 125–132.
Published
How to Cite
Issue
Section
License
Copyright (c) 2024 Journal of World Science
This work is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.
Authors who publish with this journal agree to the following terms:
- Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution-ShareAlike 4.0 International. that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
- Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
- Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.