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Pachydermoperiostosis Mimicking Acromegaly: A Case Report
Prerna1, Romana Ghosh1, Jayanta K Barua1
1Department of Dermatology, Venereology and Leprosy, Calcutta School of Tropical Medicine, Kolkata, West Bengal, India.
Indian Dermatology Online Journal
|June 2, 2018
Summary
Pachydermoperiostosis is a rare genetic disorder causing skin thickening and bone growth. This case report details a man diagnosed with pachydermoperiostosis, distinguishing it from acromegaly.
Area of Science:
- Genetics and rare diseases
- Dermatology and endocrinology
Background:
- Pachydermoperiostosis is a rare hereditary disorder.
- It presents with digital clubbing, pachyderma, and periosteal hypertrophy.
- Facial coarsening and limb enlargement can mimic acromegaly.
Observation:
- A 36-year-old man presented with a 10-year history of hand/foot broadening, facial skin thickening, and eyelid edema.
- No family history of similar symptoms was reported.
- Clinical signs suggested a rare genetic condition.
Findings:
- Normal growth hormone levels ruled out acromegaly.
- Radiological findings confirmed significant periosteal abnormalities.
- The diagnosis of pachydermoperiostosis was established based on clinical and radiological evidence.
Implications:
- Highlights the importance of considering pachydermoperiostosis in cases with acromegaly-like features.
- Emphasizes the role of radiological findings in diagnosing rare genetic disorders.
- Contributes to understanding the clinical spectrum of pachydermoperiostosis.
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