Buschke-Ollendorff Syndrome: Sparing Unnecessary Investigations

Buschke-Ollendorff syndrome (BOS) is an autosomal-dominant disease characterized by the association of connective tissue nevi and osteopoikilosis. It is diagnosed by mutations of proteins involved in bone and connective tissue morphogenesis. We report 2 cases of BOS with different cutaneous clinical...

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Veröffentlicht in:	Cutis (New York, N.Y.) N.Y.), 2014-08, Vol.94 (2), p.97-100
Hauptverfasser:	SURRENTI, Tiziana, CALLEA, Francesco, DE HORATIO, Laura Tanturri, DIOCIAIUTI, Andrea, MAYA EL HACHEM
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Biological and medical sciences Biopsy Child, Preschool Dermatology Diagnosis, Differential Diseases of the osteoarticular system Elastic Tissue - pathology Female Humans Incidental Findings Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Osteopoikilosis - diagnosis Osteopoikilosis - diagnostic imaging Osteopoikilosis - genetics Osteopoikilosis - pathology Pedigree Prognosis Radiography Siblings Skin Diseases, Genetic - diagnosis Skin Diseases, Genetic - diagnostic imaging Skin Diseases, Genetic - genetics Skin Diseases, Genetic - pathology
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Zusammenfassung:	Buschke-Ollendorff syndrome (BOS) is an autosomal-dominant disease characterized by the association of connective tissue nevi and osteopoikilosis. It is diagnosed by mutations of proteins involved in bone and connective tissue morphogenesis. We report 2 cases of BOS with different cutaneous clinical patterns. These cases emphasize the importance of heightened suspicion of BOS in selected cases. Identifying BOS can be reassuring for the patient, sparing futile and expensive investigations.
ISSN:	0011-4162 2326-6929