The association of Buschke-Ollendorf syndrome and nail-patella syndrome.
Buschke-Ollendorf syndrome and nail-patella syndrome are both rare connective tissue disorders inherited in an autosomal dominant pattern and characterized by cutaneous and bone lesions. We describe a 3-year-old boy and his family who showed clinical features of both Buschke-Ollendorf syndrome and nail-patella syndrome. To our knowledge, this association has not been reported previously, suggesting that these two connective tissue disorders may share the same gene location with different mutations or involve different mutated genes that share downstream segments of their signaling pathways. Furthermore, this young patient is also affected by a chronic idiopathic neutropenia usually not observed in Buschke-Ollendorf syndrome or nail-patella syndrome.
Drouin
Christian Allen
CA
Centre hospitalier du Grand-Portage, 75 rue St-Henri, Rivière-du-Loup, Quebec G5R 2A4, Canada.
Grenon
Hugues
H
D002675:Child, Preschool; D003240:Connective Tissue Diseases / Q000150:complications* / Q000235:genetics; D006801:Humans; D008297:Male; D009261:Nail-Patella Syndrome / Q000150:complications* / Q000235:genetics; D009503:Neutropenia / Q000150:complications; D010023:Osteopoikilosis / Q000150:complications* / Q000235:genetics; D010375:Pedigree; D013577:Syndrome