The effective treatment for<unk>  is currently unknown due to the lack of controlled data and is largely based on case reports. Although the HPGD enzyme is likely to be involved into the pathogenesis of<unk> , no strategies against this mutation have been reported yet, since it is hard to tackle a defective enzyme. Gene therapy could be a solution for this, although this has not been reported yet in literature. Conventional<unk>  drug treatment to decrease inflammation and pain includes NSAIDs and corticosteroids. Other drugs used by<unk>  patients target bone formation or skin manifestations. Surgical care is used to improve cosmetic appearance. Inflammation and pain drug treatment Non-steroidal anti-inflammatory drugs (NSAIDs) and corticosteroids are most used in<unk>  treatment. These drugs inhibit cyclo-oxygenase activity and thereby prostaglandin synthesis. Since PGE2 is likely to be involved in periosteal bone formation and acroosteolysis, this is why these drugs can alleviate the polyarthritis associated with<unk> . In addition, NSAIDs and corticosteroids decrease formation of inflammatory mediators, reducing inflammation and pain. In case of possible gastropathy, the COX-2 selective NSAID etorixocib is preferred. Infliximab can reduce pain and arthritis in<unk> . It is a monoclonal antibody that blocks the biological action of TNF-α (tumor necrosis factor-alpha). TNF-α is an inflammatory cytokine found in high levels in<unk>  and it is involved in the production of other inflammatory mediators which increase the expression of RANKL. RANKL is thought to increase bone resorption. Bone formation and pain drug treatment Rheumatologic symptoms can be improved by treatment with bisphosphonates, such as pamidronate or risedronate. Bisphosphonates inhibit osteoclastic bone resorption and therefore reduce bone remodeling and alleviate painful polyarthritis. In isolated cases, tamoxifen was effective in<unk>  treatment, especially for bone and joint pain. In<unk>  patients, high levels of nuclear receptors were found for steroids, which was the rationale to use tamoxifen, an estrogen receptor antagonist. Tamoxifen and several of its metabolites competitively bind to estrogen receptors on tissue targets, producing a nuclear complex that decreases DNA synthesis. Cells are accumulated in G0 and G1 phases. In vitro studies showed that tamoxifen acts as an estrogen agonist on bone and inhibits the resorbing activity of osteoclasts (disruption of bone tissue). Skin manifestations drug treatment Retinoids are used to improve skin manifestations. Retinoids can act on retinoid nuclear receptors and thus regulate transcription. For example, isotretinoin, the most effective drug to treat acne, improves cosmetic features by inducing apoptosis within human sebaceous glands. As a result of this, the increase of connective tissue and hyperplasia of the sebaceous glands is inhibited. Retinoids also decrease procollagen mRNA in fibroblasts, improving pachyderma. Like retinoids, colchicines can also improve skin manifestations. It is able to bind to the ends of microtubules to prevent its elongation. Because microtubules are involved in cell division, signal transduction and regulation of gene expression, colchicine can inhibit cell division and inflammatory processes (e.g. action of neutrophils and leukocytes). It is suggested that colchicine inhibit chemotactic activity of leukocytes, which leads to reduction of pachydermia. Use of botulinum toxin type A (BTX-A) improved leonine facies of patients. BTX-A inhibits release of acetylcholine acting at the neuromuscular junction. Furthermore, it blocks cholinergic transmission to the sweat glands and therefore inhibits sweat secretion. However, the exact mechanism for improving leonine faces is unknown and needs to be further investigated. Surgical Care Aside from drug treatments, there are many surgical methods to improve the facial appearance. One of them is facelift, technically known as facial rhytidectomy. This method is a type of cosmetic surgery procedure used to give a more youthful appearance. It involves the removal of excess facial skin and tightening of the skin on the face and neck. A second option is plastic surgery. This is also used for eye drooping.
Pachydermoperiostosis
Acromegaly
Craniosynostosis
Melorheostosis
Buccal exostosis
Subungual exostosis
Achondroplasia
Pseudoachondroplasia