Ossifying fibroma in Buschke-Ollendorff syndrome

Buschke–Ollendorff syndrome represents an autosomal dominant disorder characterized by connective tissue nevi and osteopoikilosis. Cutaneous lesions may contain either predominantly elastic fibers or predominantly collagen fibers or may show both connective tissue components. The disease results fro...

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Bibliographic Details
Published in:	Journal of cutaneous pathology 2014-09, Vol.41 (9), p.740-744
Main Authors:	Dawson, Annelise L., Schulman, Joshua M., Jordan, Richard C., North, Jeffrey P.
Format:	Article
Language:	eng
Subjects:	Bone Neoplasms - complications Bone Neoplasms - pathology Buschke-Ollendorff syndrome connective tissue nevus Female Fibroma, Ossifying - complications Fibroma, Ossifying - pathology Humans ossifying fibroma osteopoikilosis Osteopoikilosis - complications Osteopoikilosis - pathology Skin Diseases, Genetic - complications Skin Diseases, Genetic - pathology TGF-β Young Adult
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Summary:	Buschke–Ollendorff syndrome represents an autosomal dominant disorder characterized by connective tissue nevi and osteopoikilosis. Cutaneous lesions may contain either predominantly elastic fibers or predominantly collagen fibers or may show both connective tissue components. The disease results from mutations in LEMD3 (MAN1), which lead to enhanced transforming growth factor‐β (TGF‐β) signaling and resultant changes in fibroblast function. TGF‐β alterations have been implicated in a number of fibrotic disorders, and it is therefore not surprising that a range of cutaneous and skeletal abnormalities have been associated with Buschke–Ollendorff syndrome. Herein, we report a novel association between ossifying fibroma and Buschke–Ollendorff syndrome and discuss how these conditions are likely to be mechanistically linked.
ISSN:	0303-6987 1600-0560