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Related Experiment Video

Updated: Jul 7, 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.

Hasna Hassikou¹, Fatima Tabache, Soumaya Safi

¹Service de Médecine Interne, Hôpital militaire Moulay Ismail, Meknès, Morocco.

Joint Bone Spine

|March 4, 2008

Summary

Buschke-Ollendorff syndrome (BOS) is a rare genetic disorder causing skin hamartomas and bone abnormalities. Diagnosis involves physical exams and radiographs, distinguishing it from other bone conditions.

Area of Science:

Dermatology
Genetics
Radiology

Background:

Buschke-Ollendorff syndrome (BOS) is an autosomal dominant disorder.
It is characterized by elastin-rich hamartomas and osteopoikilosis.

Observation:

A 21-year-old woman presented with osteopoikilosis, leading to a BOS diagnosis.
She exhibited multiple, grouped, buff-colored papules on her thighs and trunk.
Skin biopsy revealed thick collagen and normal elastic fibers.

Findings:

Osteopoikilosis can be the initial manifestation of BOS.
BOS affects approximately 1 in 20,000 individuals.
Diagnosis relies on physical examination and radiographic assessment.

Implications:

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Accurate diagnosis of BOS is crucial.
Distinguishing BOS from other bone abnormalities like sclerotic bone metastases is important.
Early identification aids in managing associated symptoms and genetic counseling.