osteopoikilosis

Mottled or spotted bones caused by widespread small foci of compact bone in the substantia spongiosa; autosomal dominant inheritance [MIM*166700]. SEE ALSO: osteopathia striata, dermatofibrosis lenticularis disseminata. SYN: osteopathia condensans. [osteo- + G. poikilos, dappled, + -osis, condition]

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os·teo·poi·ki·lo·sis .äs-tē-ō-.pȯi-kə-'lō-səs n an asymptomatic hereditary bone disorder characterized by numerous sclerotic foci giving the bones a mottled or spotted appearance

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os·teo·poi·ki·lo·sis (os″te-o-poi″kĭ-loґsis) [osteo- + poikil- + -osis] an autosomal dominant trait due to mutation in the LEMD3 gene (locus: 12q14), which encodes an inner nuclear membrane protein. It is characterized by multiple sclerotic foci in the ends of long bones and scattered stippling in round and flat bones, usually without symptoms and diagnosed fortuitously by x-ray examination. osteopoikilotic adj