Authors: Jessica Nohealani Marie J. Brillantes-Quiazon, MD and Claudine B. Yap-Silva, MD, FPDS

Abstract

Pachydermoperiostosis is a rare genetic disorder. The pathophysiology remains incompletely understood, and various patterns of inheritance have been proposed: autosomal dominant, autosomal recessive and x-linked. Variable penetrance has also been observed. Frequently manifesting with pachydermia, cutis verticis gyrata and enlarged limbs, pachydermoperiostosis may clinically resemble acromegaly. Features more frequently seen in pachydermoperiostosis rather than acromegaly include seborrhea, periorbital edema and clubbing. A 19-year-old Filipino male was referred to our clinic for further evaluation of coarsened skin on the scalp and face. Symptoms started at the age of 13 as insidious, progressive enlargement of bilateral lower extremities and hands, followed by thickening facial features and skin folds on the scalp. On work up, serum cortisol, FSH, LH, growth hormone levels and 75 gram oral glucose growth hormone suppression test were all normal. This led endocrinologists to consider this as a case of “burned out acromegaly,” a condition characterized by spontaneous involution of a pituitary adenoma. However, normal predicted height measurements and histopathologic findings did not support an endocrinologic disorder. Furthermore, cranial imaging and ophthalmologic findings were not consistent with pituitary apoplexy. Periorbital edema, clubbing, and radiographic evidence of periosteal thickening pointed to pachydermoperiostosis. Similar physical findings in the patient’s siblings have prompted further investigation. This case highlights the importance of an exhaustive history and physical exam in any diagnostic dilemma, emphasizing that seemingly simple cases may not always be as straightforward. This report further underscores the importance of a multi-disciplinary approach to patient care, highlighting the role of dermatologists in systemic diseases.

Citation

Brillantes-Quiazon, JNM & Yap-Silva, C. (2017). Pachydermoperiostosis mimicking acromegaly in an adult Filipino male: Case report. Journal of the Philippine Dermatological Society, 26(1), 58-61.

Keywords

pachydermoperiostosis, cutis verticis gyrata, acromegaly

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