ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 14 Issue: 2 Year: 2022
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Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
DIFFERENTIAL DIAGNOSIS OF ACROMEGALY: PACHYDERMOPERIOSTOSIS TWO NEW CASES, TURKEY [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. Ahead of Print: JCRPE-36036 | DOI: 10.4274/jcrpe.galenos.2021.2020.0301

DIFFERENTIAL DIAGNOSIS OF ACROMEGALY: PACHYDERMOPERIOSTOSIS TWO NEW CASES, TURKEY

Emine Kartal Baykan1, Ayberk Türkyılmaz2
1Erzurum regional training and research hospital, Endocrinology and metabolic diseases, Erzurum, Turkey
2Karadeniz Technical University Faculty of Medicine, Medical Geneticist, Specialist, Erzurum, Turkey

Pachydermoperiostosis (PDP), also known as primary hypertrophic osteoarthropathy is a rare genetic disorder characterized bypachyderma and periostosis.Acromegaly is a condition caused by excessive secretion of growth hormone leading to elevated insulin growth factor-1 levels, which is characterised by somatic overgrowth and physical disfigurement notably affecting hands and feet. We presented two cases referred with an initial diagnosis of acromegaly and were ultimately diagnosed as PDP. Case 1: A 17-years old boy presented with enlargement in both feet and hands, finger clubbing, swelling in knee joints, knee pain, coarsening at facial lines and forehead skin, and excessive sweating which increased gradually over five years. There were prominent skin folds onthe forehead, face, and eyelids. Also, there was an enlargement in both hands and clubbing at the fingers. There was marked swelling at knee joints and ankles.Genetic analysis revealed a novel homozygous variantNM_005630: c.31C>T (p.Q11*) in SLCO2A1 gene.Case 2: A 16-years old boy presented with coarsening at forehead skin and scalp, excessive sweating, and pain at elbow and knee over three years. Skin folds were prominent at
forehead skin and scalp.Genetic analysis revealed a homozygous variant NM_005630.2: c.86delG(p.G29Afs*48)in SLCO2A1 gene. Such clinical presentation in corroboration with normal growth hormone level and prominent radiological abnormalities prompted us to make a diagnosis of pachydermoperiostosis.Consequently,pachydermoperiostosis is a very rare osteoarthrodermopathic disorder whose clinical and radiographic presentations may mimic those of acromegaly. In the evaluation of patients with acromegaloid appearances, pachydermoperiostosis should be considered as a differential diagnosis.




Corresponding Author: Emine Kartal Baykan, Türkiye
Manuscript Language: English
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