PMID: 11907523Mar 22, 2002Paper

The association of Buschke-Ollendorf syndrome and nail-patella syndrome

Journal of the American Academy of Dermatology
Christian Allen Drouin, Hugues Grenon

Abstract

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.

Citations

Apr 14, 2005·Clinical Rheumatology·L M Amezcua-GuerraCarlos Pineda
Dec 29, 2015·The British Journal of Dermatology·V PopeI Lara-Corrales
Apr 1, 2005·Clinical Rheumatology·P CarpinteroL Castro

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