Buschke-Ollendorff syndrome; dermatofibrosis, disseminated with osteopoikilosis; osteopathia consensans disseminata

Introduction

named for Abraham Buschke & Helene Ollendorff Curth

Pathology

• associated with defects in copper metabolism & lysyl oxidase or defects in the microfibril (defects in fibrillin, or fibullin) affecting elastic fibers
• osteopoikilosis
• circumscribed sclerotic areas occur near the ends of many bones of no pathologic consequence
• spotty skin lesions & connective tissue nevi are found in many cases

Genetics

• associated with defects in LEMD3

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/166700