Pachydermoperiostosis mimicking the acral abnormalities of acromegaly

Marques, Pedro; Stelmachowska-Banaś, Maria; Wernig, Florian; Korbonits, Márta

doi:10.1007/s12020-019-02168-5

Cited by 11 publications

(11 citation statements)

References 3 publications

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“…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. Besides the GH/ IGF-1 axis assessment to rule out acromegaly, the investigation should include thyroid function tests, glucose, insulin, HbA1c and lipid profile.…”

Section: Discussionmentioning

confidence: 99%

“…1,3 Such pseudoacromegaly conditions are rare and sometimes have overlapping features, which impose further challenges to the differential diagnosis, however some have distinctive features facilitating the establishment of the diagnosis of the underlying condition. 2,[4][5][6] Although the list of conditions associated with acromegaloid features but normal GH/IGF-1 axis may be extensive, not all pseudoacromegaly conditions mimic closely acromegaly or pituitary gigantism. Hence, some of these pseudoacromegaly cases are more prone to first present to adult or paediatric endocrinologists, while others with lower likelihood of masquerading acromegaly are typically referred to other medical specialists.…”

Section: Introductionmentioning

confidence: 99%

“…The differential diagnosis of pseudoacromegaly is challenging due to the long list of disorders that may be associated with acromegaly‐related manifestations, including acromegaloid facial appearance, acral enlargement, overgrowth/tall stature, macroglossia, arthralgia, skin manifestations, hyperhidrosis, hypertension, diabetes, among others 1,3 . Such pseudoacromegaly conditions are rare and sometimes have overlapping features, which impose further challenges to the differential diagnosis, however some have distinctive features facilitating the establishment of the diagnosis of the underlying condition 2,4–6 …”

Section: Introductionmentioning

confidence: 99%

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

Marques,

Sapinho,

Korbonits

2024

Clinical Endocrinology

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ObjectivePseudoacromegaly encompasses conditions with features of acromegaly/gigantism, but no growth hormone (GH) or insulin‐like growth factor‐1 (IGF‐1) excess. We aimed to review published pseudoacromegaly cases evaluated due to clinical suspicion of acromegaly.Design/PatientsPubMed/Medline search was conducted to identify reported pseudoacromegaly cases, which were systematically reviewed to ensure they met eligibility criteria: (1) presentation suggestive of acromegaly; (2) acromegaly excluded based on normal GH, IGF‐1 and/or GH suppression on oral glucose tolerance test (OGTT‐GH); (3) diagnosis of the pseudoacromegaly condition was established. Data were retrieved from each case and analysed collectively.ResultsOf 76 cases, 47 were males, mean ages at presentation and at first acromegaloid symptoms were 28 ± 16 and 17 ± 10 years, respectively. Most common conditions were pachydermoperiostosis (47%) and insulin‐mediated pseudoacromegaly (IMP) (24%). Acromegaloid facies (75%) and acral enlargement (80%) were the most common features. Measurement of random GH was reported in 65%, IGF‐1 in 79%, OGTT‐GH in 51%. GH excess was more frequently excluded based on two tests (53%). Magnetic resonance imaging (MRI) was performed in 30 patients, with pituitary adenoma or hyperplasia being reported in eight and three patients, respectively. Investigations differed between cases managed by endocrine and non‐endocrine specialists, the former requesting more often IGF‐1, OGTT‐GH and pituitary MRI.ConclusionsPseudoacromegaly is a challenging entity that may be encountered by endocrinologists. Pachydermoperiostosis and IMP are the conditions most often mimicking acromegaly. Adequate assessment of GH/IGF‐1 is crucial to exclude acromegaly, which may be better performed by endocrinologists. Pituitary incidentalomas are common and require careful judgement to prevent unnecessary pituitary surgery.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

Marques,

Sapinho,

Korbonits

2024

Clinical Endocrinology

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“…Patients can use non-steroidal anti-inflammatory drugs, colchicine, and corticosteroids to relieve joint pain. Plastic surgery can also be used to improve facial features [ 9 , 10 ].…”

Section: Discussionmentioning

confidence: 99%

Pachydermoperiostosis and Work Restrictions: A Case Report

Chinichian¹,

Asghari²,

Safaie³

et al. 2023

Cureus

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Pachydermoperiostosis (PDP) is a rare disease that mimics the clinical and radiographical manifestations of acromegaly. Therefore, it should be considered as one of the differential diagnoses in the evaluation of acromegalic patients. In this study, we discussed a case of PDP in a 24-year-old simple worker working in a food industry factory and reviewed the work restrictions caused by the complications of the disease.

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“…Facial coarsening, cutis verticis gyrate, seborrhea, acne and hyperhidrosis, are common in both PDP and in acromegaly. Symptoms specific to PDP but not seen in acromegaly, are long eyelashes, blepharoptosis, myelofibrosis, hypoalbuminemia, peptic ulcer, gastric cancer or watery diarrhoea in response to certain triggers, such as cold drinks, greasy food or sexual activity ( 15 ).…”

Section: Discussionmentioning

confidence: 99%

Differential Diagnosis of Acromegaly: Pachydermoperiostosis Two New Cases from Turkey

Baykan¹,

Türkyılmaz²

2022

Jcrpe

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Pachydermoperiostosis (PDP), also known as primary hypertrophic osteoarthropathy, is a rare genetic disorder characterized by pachyderma and periostosis. Acromegaly is a condition caused by excessive secretion of growth hormone (GH) leading to elevated insulin-like growth factor 1 levels, and is characterised by somatic overgrowth and physical disfigurement, notably affecting hands and feet. We present two cases referred with an initial diagnosis of acromegaly that were ultimately diagnosed as PDP. Case 1: A 17 year-old boy presented with enlargement in both feet and hands, finger clubbing, swelling in knee joints, knee pain, coarsening of facial skin lines and forehead skin, and excessive sweating which increased gradually over five years. There were prominent skin folds on the forehead, face, and eyelids. Also, there was an enlargement in both hands and clubbing of the fingers. There was marked swelling in the knee joints and ankles. Genetic analysis revealed a novel homozygous variant NM_005630: c.31C>T (p.Q11*) in the SLCO2A1 gene. Case 2: A 16 year-old boy presented with coarsening of forehead skin and scalp, excessive sweating, and pain in the elbow and knee over three years. Skin folds were prominent on the forehead and scalp. Genetic analysis revealed a homozygous variant NM_005630.2:c.86delG (p.G29Afs*48) in the SLCO2A1 gene. Such clinical presentation contemporaneous with normal GH level and prominent radiological abnormalities prompted the diagnosis of PDP. In conclusion, PDP is a very rare osteoarthrodermopathic disorder with clinical and radiographic presentation that may mimic acromegaly. In the evaluation of patients with acromegaloid appearance, PDP should be considered as a differential diagnosis.

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Pachydermoperiostosis mimicking the acral abnormalities of acromegaly

Cited by 11 publications

References 3 publications

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

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

Pachydermoperiostosis and Work Restrictions: A Case Report

Differential Diagnosis of Acromegaly: Pachydermoperiostosis Two New Cases from Turkey

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