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Idiopathic phalangeal acroosteolysis: a case report
Taoufik Harzy1, Karima Benbouazza, Noufissa Lazrak
1Rheumatology department, C.H. régional d'Orléans, 1, rue Porte-Madeleine, BP 2439, 45032 Orléans cedex 1, France. t.harzy@caramail.com
Joint Bone Spine
|April 26, 2003
Summary
Idiopathic phalangeal acroosteolysis is a rare bone resorption condition affecting fingers and toes. This case highlights its presentation in a young girl, emphasizing the need for accurate diagnosis.
Area of Science:
- Medical Science
- Genetics
- Radiology
Background:
- Acroosteolysis involves bone resorption in digits, with phalangeal acroosteolysis being a rare idiopathic subtype.
- This condition can be associated with various systemic diseases or present as an inherited disorder.
Observation:
- A 13-year-old girl presented with a two-year history of swelling and skin ulcers on her fingers.
- Clinical examination revealed abnormally short fingers with hypertrophic nails.
- Radiographic imaging confirmed terminal phalangeal resorption in both fingers and toes.
Findings:
- Inflammatory, autoimmune, neurological, and infectious disease markers were negative.
- Skin biopsies showed fibrosis without inflammation.
- Metabolic workup for calcium and phosphate levels was normal, supporting an idiopathic diagnosis.
Implications:
- The diagnosis of idiopathic phalangeal acroosteolysis (Joseph and Shinz disease) was established.
- This inherited condition, transmitted autosomally, affects distal phalanges but can progress.
- Accurate diagnosis is crucial for understanding prognosis and potential genetic counseling.