Bones are constantly being remodeled, and the process is carefully controlled to ensure that bones stay strong and healthy. Mutations in any of the genes associated with osteopetrosis lead to abnormal or missing osteoclasts. Without functional osteoclasts, old bone is not broken down as new bone is formed. As a result, bones throughout the skeleton become unusually dense. The bones are also structurally abnormal, making them prone to fracture. These problems with bone remodeling underlie all of the major features of osteopetrosis. Diagnosis
The differential diagnosis of osteopetrosis includes other disorders that produce osteosclerosis. They constitute a wide array of disorders with clinically and radiologically diverse manifestations. Among the differential diagnosis are hereditary ostoesclerosing dysplasias such as; neuropathic infantile osteopetrosis, infantile osteopetrosis with renal tubular acidosis, infantile osteopetrosis with immunodeficiency, infantile osteopetrosis with leukocyte adhesion deficiency syndrome (LAD-III), pyknodysostosis (osteopetrosis acro-osteolytica), osteopoikilosis (Buschke–Ollendorff syndrome), osteopathia striata with cranial sclerosis, mixed sclerosing skeletal dysplasias, progressive diaphyseal dysplasia (Camurati–Engelmann disease), SOST-related sclerosing skeletal dysplasias. Besides, the differential diagnosis includes acquired conditions that induce osteosclerosis such as osteosclerotic metastasis notably carcinomas of the prostate gland and breast, Pagets disease of bone, myelofibrosis (primary disorder or secondary to intoxication or malignancy), Erdheim-Chester disease, osteosclerosing types of osteomyelitis, sickle cell disease, hypervitaminosis D, and hypoparathyroidism. Treatment
It was the first genetic disease treated with hematopoietic stem cell transplantation (osteoclasts are derived from hematopoietic precursors). There is no cure, although curative therapy with bone marrow transplantion is being investigated in clinical trials.
Neomycin/polymyxin B/bacitracin, also known as triple antibiotic ointment, is a medication used to reduce the risk of infections following minor skin injuries. It contains three antibiotics: neomycin, polymyxin B, and bacitracin. It is for topical use only and should not be ingested due to risk of kidney damage.Possible side effects include itchiness and skin rash, and in rare cases hearing loss. Use in pregnancy is generally recommended. It is relatively broad spectrum, being effective against both Gram-negative and Gram-positive bacteria.The combination was approved for medical use in the United States in 1971. It is available over the counter in the United States. In 2017, it was the 78th most commonly prescribed medication in the United States, with more than ten million prescriptions. It is sold under the brand name Globe and Neosporin, among others and is available generically at most major pharmaceutical retailers. Medical uses
Neomycin/polymyxin B/bacitracin ointment is reported to be a safe and effective topical agent for preventing infections in minor skin trauma.It is used for burns, scratches, cuts, and minor skin infections. The ointment is most effective when applied after cleaning the affected area.The use of neomycin/polymyxin B/bacitracin, decreases infection rates in minor-contaminated wounds. However, if the wound is sterile, then there are no benefits compared to petrolatum (placebo). Side effects
It is for external use only and should not be applied near mucous membranes such as the eyes or mouth. It is not recommended for children under the age of two.