Osteopoikilosis is a
benign
Malignancy () is the tendency of a medical condition to become progressively worse.
Malignancy is most familiar as a characterization of cancer. A ''malignant'' tumor contrasts with a non-cancerous benign tumor, ''benign'' tumor in that a malign ...
,
autosomal dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...
sclerosing
Sclerotherapy (the word reflects the Greek ''skleros'', meaning ''hard'')
is a procedure used to treat blood vessel malformations ( vascular malformations) and also malformations of the lymphatic system. A medicine is injected into the vessels, ...
dysplasia
Dysplasia is any of various types of abnormal growth or development of cells (microscopic scale) or organs (macroscopic scale), and the abnormal histology or anatomical structure(s) resulting from such growth. Dysplasias on a mainly microscopic ...
of bone characterized by the presence of numerous
bone island
Bone Island ( ta, எலும்புத்தீவு / போன் தீவு) is a tiny island as part of Batticaloa Lagoon among other small islands of Sri Lanka It has no causeway connection to the mainland, it is connected by boat. I ...
s in the skeleton.
Presentation
The radiographic appearance of osteopoikilosis on an
X-ray
An X-ray, or, much less commonly, X-radiation, is a penetrating form of high-energy electromagnetic radiation. Most X-rays have a wavelength ranging from 10 picometers to 10 nanometers, corresponding to frequencies in the range 30&nb ...
is characterized by a pattern of numerous white densities of similar size spread throughout all the bones. This is a systemic condition. It must be differentiated from
blastic metastasis, which can also present radiographically as white densities interspersed throughout bone. Blastic metastasis tends to present with larger and more irregular densities in less of a uniform pattern. Another differentiating factor is age, with blastic metastasis mostly affecting older people, and osteopoikilosis being found in people 20 years of age and younger.
The distribution is variable, though it does not tend to affect the ribs, spine, or skull.
Cause
Epidemiology
Men and women are affected in equal number,
reflecting the fact that osteopoikilosis attacks indiscriminately. Additionally, the disease is often associated with
melorheostosis
Melorheostosis is a medical developmental disorder and mesenchymal dysplasia in which the bony cortex widens and becomes hyperdense in a sclerotomal distribution. The condition begins in childhood and is characterized by thickening of the bones. P ...
,
despite the apparent lack of correlation between melorheostosis and genetic heritability. It has been tied to
LEMD3
LEM domain-containing protein 3 (LEMD3), also known as MAN1, is an integral protein in the inner nuclear membrane (INM) of the nuclear envelope. It is encoded by the ''LEMD3'' gene and was first identified after it was isolated from the serum of ...
.
Buschke–Ollendorff syndrome
Buschke–Ollendorff syndrome (BOS) is a rare genetic disorder associated with LEMD3. It is believed to be inherited in an autosomal dominant manner. It is named for Abraham Buschke and Helene Ollendorff Curth, who described it in a 45-year-old ...
is a similar condition,
which is also associated with
LEMD3
LEM domain-containing protein 3 (LEMD3), also known as MAN1, is an integral protein in the inner nuclear membrane (INM) of the nuclear envelope. It is encoded by the ''LEMD3'' gene and was first identified after it was isolated from the serum of ...
.
bone scan
A bone scan or bone scintigraphy is a nuclear medicine imaging technique of the bone. It can help diagnose a number of bone conditions, including cancer of the bone or metastasis, location of bone inflammation and fractures (that may not be vi ...
in a person with osteopoikilosis
See also
*
References
External links
{{Cytoskeletal defects
Cytoskeletal defects