Pachydermoperiostosis mimicking acromegaly: A case report

Prerna,; Ghosh, Romana; Barua, Jayanta Kumar; Das, Arup

doi:10.4103/idoj.idoj_230_17

Cited by 6 publications

(3 citation statements)

References 7 publications

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“…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.…”

Section: Discussionmentioning

confidence: 99%

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%

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

Marques,

Sapinho,

Korbonits

2024

Clinical Endocrinology

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“…PDP is an uncommon genetic disorder whose exact incidence is not known; however, the estimated prevalence of the disease is 0.16% [11]. Among the reported cases, 30.00% of the patients with PDP show autosomal dominant inheritance with variable penetrance and men are more commonly affected than women, with a 7:1 ratio [10][11][12]. Complete PDP, with the presence of all the triads, accounts for 3.00% of all cases of primary hypertrophic osteoarthropathy [13].…”

Section: Discussionmentioning

confidence: 99%

Complete pachydermoperiostosis: A case report

Abdul Mubing,

Abdul Rahman,

Badrin

et al. 2024

ELECTRON J GEN MED

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Pachydermoperiostosis (PDP), also known as Touraine-Solente-Gole syndrome or primary hypertrophic osteoarthropathy, is a very rare disease mainly characterized by pachyderma, finger clubbing, hyperhidrosis, and periostosis. We reported a case of a patient who suffered from gradual pain and enlargement of both hands and feet for 25 years despite receiving treatment from multiple clinics. He also experienced gradual abnormal changes in his face and scalp. Radiographic images of the lower limbs revealed the presence of subperiosteal bone growth and periosteal hypertrophy. The diagnosis of complete PDP was made late due to its rarity and the unfamiliarity of medical practitioners with the diagnosis. This case highlighted the need for medical practitioners to be aware of rare diseases so that patients may be diagnosed and treated earlier and thereby relieving their anxiety and improve their quality of life.

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“…PDP can mimic common non-genetic conditions such as acromegaly, lepromatous leprosy, mucinosis, myxoedema and juvenile periostitis (syphilitic periostitis, psoriatic onycho-pachydermo periostitis and Paget’s disease) 15 . However, digital clubbing and periostitis are not commonly associated with acromegaly and periostitis conditions rarely have cutaneous manifestations.…”

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confidence: 99%

Identification of three novel mutations in SLCO2A1 in Asian-Indians with Pachydermoperiostosis

Pasumarthi,

Ranganath,

Mandal

et al. 2023

Indian Journal of Medical Research

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Pachydermoperiostosis mimicking acromegaly: A case report

Cited by 6 publications

References 7 publications

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

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

Complete pachydermoperiostosis: A case report

Identification of three novel mutations in SLCO2A1 in Asian-Indians with Pachydermoperiostosis

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