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.
Department of Dermatology, Philipp University of Marburg, Marburg, Germany. happle@mailer.uni-marburg.de
Rudolf
R
Happle
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