ArticleJournal of clinical research in pediatric endocrinology2022
Differential Diagnosis of Acromegaly: Pachydermoperiostosis Two New Cases from Turkey
Article in Journal of clinical research in pediatric endocrinology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6 citing papers in PubMed, 13 citations in OpenAlex.
- Pachydermoperiostosis Associated With a Rare SLCO2A1 Mutation: A Case Report and Literature Review.Cureus · 2025Article
- Primary hypertrophic osteoarthropathy: phenotypic variability and penetrance rate in heterozygotes forJBMR plus · 2025Article
- Harnessing immunotherapy: cancer vaccines as novel therapeutic strategies for brain tumor.Frontiers in immunology · 2025Review
- Pachydermoperiostosis Due to a NovelJCEM case reports · 2024Article
- Suspected silent pituitary somatotroph neuroendocrine tumor associated with acromegaly-like bone disorders: a case report.BMC endocrine disorders · 2024Article
- A Complete Form of Pachydermoperiostosis Accompanied by a Pituitary Microadenoma.Clinical, cosmetic and investigational dermatology · 2023Article
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2 authors at 2 institutions in 1 country.
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Abstract
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
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