Buschke-Ollendorff syndrome: a 32-month-old boy with elastomas and craniosynostosis.
A 32-month-old boy with hypotonia, developmental delay, and multiple craniofacial abnormalities including craniosynostosis presented with numerous nonspecific, flesh-colored papules on his right flank. Upon biopsy, these lesions were diagnosed as elastomas. Similar skin lesions were found in the patient's younger brother. The patient's father and brother had osteopoikilotic lesions on radiography, but the patient did not have these findings. None of the reported cases to date have included craniosynostosis in association with Buschke-Ollendorff syndrome. In addition to the case findings, the report also provides a short and current review of the syndrome.
Reid
Erin Miller
EM
University of Kentucky College of Medicine, Lexington, Kentucky, USA. jereid2@uky.edu
Baker
Brian L
BL
Stees
Marc A
MA
Stone
Stephen P
SP
D002675:Child, Preschool; D003398:Craniosynostoses; D002658:Developmental Disabilities; D004547:Elastic Tissue / Q000473:pathology*; D006801:Humans; D008297:Male; D009123:Muscle Hypotonia; D009506:Nevus / Q000473:pathology*; D010023:Osteopoikilosis / Q000000981:diagnostic imaging*; D011859:Radiography; D012867:Skin / Q000473:pathology; D012878:Skin Neoplasms / Q000473:pathology*; D013577:Syndrome