Collier, D

Korbonits, M

Marques, P

Stelmachowska-Banas, M

Wernig, F

English

Queen Mary Research Online

Endocrinehttps://doi.org/10.1007/s12020-019-02168-5ENDOCRINE IMAGINGPachydermoperiostosis mimicking the acral abnormalities ofacromegalyPedro Marques1 ● Maria Stelmachowska-Banas2 ● David Collier1 ● Florian Wernig3 ● Márta Korbonits 1Received: 3 November 2019 / Accepted: 18 December 2019© The Author(s) 2020Bones and soft tissues of hands and feet can be affected bydifferent conditions, including genetic, metabolic or sys-temic disorders [1]. Acromegaly is a condition caused byexcessive secretion of growth hormone (GH) leading toelevated insulin growth factor-1 (IGF-1) levels, which ischaracterised by somatic overgrowth and physical dis-figurement notably affecting hands and feet [2]. However,there are other conditions that can mimick the clinical fea-tures seen in acromegaly without GH/IGF-1 anomalies,termed as pseudoacromegaly [1].A 3-year-old boy was noted to have large hands and feet,severe joint pain and hyperhidrosis. Later he developedforehead skin furrowing (pachydermia), but was not diag-nosed until the age of 26, when he was referred to anendocrinologist with the suspicion of acrogigantism. IGF-1level was not elevated, random GH 0.14 µg/l, GH afterglucose-load was 0.46 µg/l. He has pachydermoperiostosisdue to a homozygous HPGD (15-hydroxyprostaglandin-dehydrogenase) mutation (c.175-176delCT). His hands andfeet are remarkably large and fleshy with long and thick-ened fingers and toes, prominent digital clubbing and loss ofthe normal contour of the widened wrists and ankles (Fig. 1,left subject). Similar acral features can be seen in acrome-galy (Fig. 1, middle subject), while both are remarkablydifferent from a healthy male (Fig. 1, right subject). The leftpatient had other clinical features characteristic of pachy-dermoperiostosis, including seborrhoea, long eyelashes,blepharoptosis, peri-articular oedemas, synovial effusionsand periodic watery diarrhoea. Although tall stature is not aclassical feature of pachydermoperiostosis [3], this patient’sheight (200 cm, midparental-height 181 cm) adds furtherdiagnostic challenges to distinguish from young-onsetacromegaly. His brother presented at the age of 3 witharthralgia and bone and skin manifestations; he carriesthe same homozygous mutation, while parents areheterozygous.Pachydermoperiostosis (primary autosomal recessivehypertrophic osteoarthropathy) is a rare condition char-acterised by digital clubbing, joint problems and pachy-dermia, but other skin manifestations due to dermal andsebaceous gland hypertrophy can be found [1]. HPGD lossleads to accumulation of circulating prostaglandins, sug-gested to play a role in the development of the character-istic signs and symptoms [3]. Pachydermoperiostosis-related acral abnormalities may overlap with those seen inacromegaly, including broadened extremities, widened,thickened and stubby fingers, and thickened soft tissue. Inacromegaly, excessive GH/IGF-1 leads to periosteal boneformation, growth of synovial tissue, cartilage and leadingto hypertrophic arthropathy associated with pain anddeformity [2], as also seen in pachydermoperiostosis.Cutis verticis gyrate, facial coarsening, hyperhidrosis,seborrhoea and acne are common in pachydermoper-iostosis as well as in acromegaly. However, other mani-festations characteristic in pachydermoperiostosis, but notseen in acromegaly, are blepharoptosis, long eyelashes,myelofibrosis, hypoalbuminemia, peptic ulcer, gastriccancer or watery diarrhoea in response to certain triggers,such as cold drinks, greasy food or sexual activity [1].Pachydermoperiostosis diagnosis is often established bygeneticists or rheumatologists; however, these patientsmay be first referred for investigation of possible GHexcess to an endocrinologist, as in our case and in severalcases reported in the literature, thus we should be aware ofpachydermoperiostosis as a pseudoacromegaly conditionand aid in establishing its diagnosis [1].* Márta Korbonitsm.korbonits@qmul.ac.uk1 Centre for Endocrinology, William Harvey Research Institute,Barts and the London School of Medicine and Dentistry, QueenMary University of London, London EC1M 6BQ, UK2 Department of Endocrinology, Centre of Postgraduate MedicalEducation, Warsaw 01-809, Poland3 Endocrinology, Imperial College Healthcare NHS Trust,London W6 8RF, UK1234567890();,:1234567890();,:Acknowledgements We are grateful to the patients and the healthyindividual for consenting the clinical photography and its publication.P.M. is supported by the Joan Adams Clinical Fellowship and theBarts and The London Charity Clinical Research Training Fellowship.Author contributions P.M., M.S.-B., D.C., F.W. and M.K. wereinvolved in the clinical care of the patient, literature review andmanuscript preparation. All authors read and approved the finalmanuscript.Compliance with ethical standardsConflict of interest The authors declare that they have no conflict ofinterest.Ethical approval Ethical approval was granted by the local EthicsCommittee.Informed consent Informed consent was obtained from all the patientsincluded in this article.Publisher’s note Springer Nature remains neutral with regard tojurisdictional claims in published maps and institutional affiliations.Open Access This article is distributed under the terms of the CreativeCommons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use,distribution, and reproduction in any medium, provided you giveappropriate credit to the original author(s) and the source, provide a linkto the Creative Commons license, and indicate if changes were made.References1. P. Marques, M. Korbonits, Pseudoacromegaly. Front. Neuroendo-crinol. 52, 113–143 (2019). https://doi.org/10.1016/j.yfrne.2018.11.0012. P. Chanson, S. Salenave, Acromegaly. Orphanet J. Rare Dis. 3, 17(2008). https://doi.org/10.1186/1750-1172-3-173. Z. Zhang, C. Zhang, Z. Zhang, Primary hypertrophic osteoarthro-pathy: an update. Front Med. 7(1), 60–64 (2013). https://doi.org/10.1007/s11684-013-0246-6Fig. 1 Hands, feet and facialappearance of a tall patient withpachydermoperiostosis (leftsubject), in comparison with apatient with acromegaly (middlesubject) and a healthy male(right subject). Note the digitalclubbing and the loss of contourof the wrist and ankle in thepatient withpachydermoperiostosisEndocrine

Pachydermoperiostosis mimicking the acral abnormalities of acromegaly

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Pachydermoperiostosis mimicking the acral abnormalities of acromegaly

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