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Updated: Jun 28, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

Buschke-Ollendorff syndrome.

Donatella Schena¹, Lerica Germi, Maria Rosa Zamperetti

¹Department of Biomedical and Surgical Sciences, Section of Dermatology and Venereology, University of Verona, Verona, Italy. donatella.schena@azosp.vr.it

International Journal of Dermatology

|November 7, 2008

Summary

Buschke-Ollendorff syndrome, a rare genetic disorder, presents with bone abnormalities and distinctive skin lesions. Early recognition is key for managing this connective tissue disorder.

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Last Updated: Jun 28, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

Area of Science:

Genetics
Dermatology
Radiology

Background:

Buschke-Ollendorff syndrome is a rare autosomal dominant disorder.
Characterized by osteopoikilosis (dense bone spots) and connective tissue abnormalities.
Caused by mutations affecting bone and connective tissue development.

Observation:

A 39-year-old woman presented with Buschke-Ollendorff syndrome.
Radiological examination revealed osteopoikilosis in the ankle after minor trauma.
Multiple asymptomatic subcutaneous nodules were present on the thighs, increasing over time.

Findings:

The patient exhibited typical features of Buschke-Ollendorff syndrome.
Skin lesions included persistent nodules and a recent linear, string-like formation.
Osteopoikilosis was confirmed radiologically.

Implications:

Highlights the importance of recognizing clinical and radiological signs.
Emphasizes the need for a high index of suspicion for accurate diagnosis.
Contributes to understanding the variable presentation of Buschke-Ollendorff syndrome.