Melorheostosis may originate as a type 2 segmental manifestation of osteopoikilosis.
Melorheostosis is a non-hereditary disorder involving the bones in a segmental pattern, whereas osteopoikilosis is a rather mild disseminated bone disorder inherited as an autosomal dominant trait. Interestingly, melorheostosis and osteopoikilosis may sometimes occur together. In analogy to various autosomal dominant skin disorders for which a type 2 segmental manifestation has been postulated, melorheostosis may be best explained in such cases as a type 2 segmental osteopoikilosis, resulting from early loss of the corresponding wild type allele at the gene locus of this autosomal dominant bone disorder.
Happle
Rudolf
R
Department of Dermatology, Philipp University of Marburg, Marburg, Germany. happle@mailer.uni-marburg.de
D001842:Bone and Bones / Q000473:pathology; D005799:Genes, Dominant; D006801:Humans; D008557:Melorheostosis / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D010023:Osteopoikilosis / Q000150:complications / Q000235:genetics* / Q000473:pathology