A Complete Form of Pachydermoperiostosis Accompanied by a Pituitary Microadenoma

Abstract

Pachydermoperiostosis is a rare genetic disease that is associated with HPGD (15-hydroxyprostaglandin dehydrogenase) and SLCO2A1 (solute carrier organic anion transporter family member 2A1) gene mutations. It is characterized by three major phenotypes, namely, pachydermia, periostosis, and digital clubbing. Clinically, misdiagnoses such as acromegaly and thyroid acropachy are commonly confused with pachydermoperiostosis. Integral medical history, physical examination, endocrinological tests, and multiple disciplinary cooperation are extremely significant in the accurate diagnosis of pachydermoperiostosis. The co-existence of pachydermoperiostosis and pituitary adenoma is rarely recorded and discussed. In this case, we present a young male patient with a complete form of pachydermoperiostosis and a nonfunctional pituitary microadenoma, which has rarely been reported.

Pseudoacromegaly—A challenging entity in the endocrine clinic: A systematic review

“…Most pituitary adenomas in the pseudoacromegaly setting have been detected in young patients (as early as 14 years old; mean age at diagnosis 25 years), population where incidentalomas are less common 64–66 . Pituitary incidentalomas seem common in pseudoacromegaly (more than in the general population 67,68 ), and typically correspond to small nonfunctioning adenomas without clinical significance 4,32,34,36,38,45,48,69 . Nevertheless, such pituitary incidentalomas require careful judgement to prevent inappropriate surgery 14 .…”

“…12,15,20,[33][34][35][36][37] Moreover, the coexistence of tall stature/overgrowth with acromegaloid physical features seem to be more prevalent in insulin-mediated pseudoacromegaly than in other pseudoacromegaly conditions, which may further explain the increased referrals of such cases to paediatric/adult endocrinologists for the evaluation of excessive growth. In contrast, pachydermoperiostosis cases were mainly referred to non-endocrine specialists, including dermatologists and internists, given the prominent skin and skeletal manifestations typical of this condition 11,[38][39][40][41][42] ; however, many reported pachydermoperiostosis patients were first referred and diagnosed by endocrinologists. 5,23,[43][44][45][46][47][48][49][50] Endocrinologists should be familiar with these conditions and always consider them in the work-up of a pseudoacromegaly case.…”

“…[64][65][66] Pituitary incidentalomas seem common in pseudoacromegaly (more than in the general population 67,68 ), and typically correspond to small nonfunctioning adenomas without clinical significance. 4,32,34,36,38,45,48,69 Nevertheless, such pituitary incidentalomas require careful judgement to prevent inappropriate surgery. 14 Pituitary hyperplasia was reported in a 57-year-old female with insulin-mediated pseudoacromegaly, 15 and in two males (ages 22 and 64) with pseudoacromegaly due to long-standing primary hypothyroidism in whom the hyperplasia resolved following euthyroidism restoration 16,17 ;…”