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The disorder is progressive, with the ultimate severity of symptoms often depending on age of onset. In severe cases amputation has been performed when conservative measures such as physical therapy and regional anesthetics have been ineffective.
Like treatment options, the prognosis is dependent on the severity of the symptoms. Despite the various symptoms and limitations, most individuals have normal intelligence and can lead a normal life.
Because kniest dysplasia can affect various body systems, treatments can vary between non-surgical and surgical treatment. Patients will be monitored over time, and treatments will be provided based on the complications that arise.
Symptomatic individuals should be seen by an orthopedist to assess the possibility of treatment (physiotherapy for muscular strengthening, cautious use of analgesic medications such as nonsteroidal anti-inflammatory drugs). Although there is no cure, surgery is sometimes used to relieve symptoms. Surgery may be necessary to treat malformation of the hip (osteotomy of the pelvis or the collum femoris) and, in some cases, malformation (e.g., genu varum or genu valgum). In some cases, total hip replacement may be necessary. However, surgery is not always necessary or appropriate.
Sports involving joint overload are to be avoided, while swimming or cycling are strongly suggested. Cycling has to be avoided in people having ligamentous laxity.
Weight control is suggested.
The use of crutches, other deambulatory aids or wheelchair is useful to prevent hip pain. Pain in the hand while writing can be avoided using a pen with wide grip.
There is no causative / curative therapy. Symptomatic medical treatments are focussing on symptoms caused by orthopaedic, dental or cardiac problems. Regarding perioperative / anesthesiological management, recommendations for medical professionals are published at OrphanAnesthesia.
Treatment in fibrous dysplasia is mainly palliative, and is focused on managing fractures and preventing deformity. There are no medications capable of altering the disease course. Intravenous bisphosphonates may be helpful for treatment of bone pain, but there is no clear evidence that they strengthen bone lesions or prevent fractures. Surgical techniques that are effective in other disorders, such as bone grafting, curettage, and plates and screws, are frequently ineffective in fibrous dysplasia and should be avoided. Intramedullary rods are generally preferred for management of fractures and deformity in the lower extremities. Progressive scoliosis can generally be managed with standard instrumentation and fusion techniques. Surgical management in the craniofacial skeleton is complicated by frequent post-operative FD regrowth, and should focus on correction of functional deformities. Prophylactic optic nerve decompression increases the risk of vision loss and is contraindicated.
Managing endocrinopathies is a critical component of management in FD. All patients with fibrous dysplasia should be evaluated and treated for endocrine diseases associated with McCune–Albright syndrome. In particular untreated growth hormone excess may worsen craniofacial fibrous dysplasia and increase the risk of blindness. Untreated hypophosphatemia increases bone pain and risk of fractures.
There is currently no cure for pseudoachondroplasia. However, management of the various health problems that result from the disorder includes medications such as analgesics (painkillers) for joint discomfort, osteotomy for lower limb deformities, and the surgical treatment of scoliosis. Prevention of some related health problems includes physical therapy to preserve joint flexibility and regular examinations to detect degenerative joint disease and neurological manifestations (particularly spinal cord compression). Additionally, healthcare providers recommend treatment for psychosocial issues related to short stature and other physical deformities for both affected individuals and their families (OMIM 2008).
Non-surgical interventions include three elements: weight control, exercise control, and medication. Canine massage may alleviate discomfort and help move lymph and nutrients through the system. Weight control is often "the single most important thing that we can do to help a dog with arthritis", and consequentially "reducing the dog's weight is enough to control all of the symptoms of arthritis in many dogs". Reasonable exercise stimulates cartilage growth and reduces degeneration (though excessive exercise can do harm too), and also regular long walks in early or mild dysplasia can help prevent loss of muscle mass to the hips. Medication can reduce pain and discomfort, and also reduce damaging inflammation.
Non-surgical intervention is usually via a suitable non-steroidal anti-inflammatory drug (NSAID) which doubles as an anti-inflammatory and painkiller. Typical NSAIDs used for hip dysplasia include carprofen and meloxicam (often sold as Rimadyl and Metacam respectively), both used to treat arthritis resulting from dysplasia, although other NSAIDs such as tepoxalin (Zubrin) and prednoleucotropin ("PLT", a combination of cinchophen and prednisolone) are sometimes tried. NSAIDs vary dramatically between species as to effect: a safe NSAID in one species may be unsafe in another. It is important to follow veterinary advice.
A glucosamine-based nutritional supplement may give the body additional raw materials used in joint repair. Glucosamine can take 3–4 weeks to start showing its effects, so the trial period for medication is usually at least 3–5 weeks. In vitro, glucosamine has been shown to have negative effects on cartilage cells.
It is also common to try multiple anti-inflammatories over a further 4–6 week period, if necessary, since an animal will often respond to one type but fail to respond to another. If one anti-inflammatory does not work, a vet will often try one or two other brands for 2–3 weeks each, also in conjunction with ongoing glucosamine, before concluding that the condition does not seem responsive to medication.
Carprofen, and other anti-inflammatories in general, whilst very safe for most animals, can sometimes cause problems for some animals, and (in a few rare cases) sudden death through liver toxicity. This is most commonly discussed with carprofen but may be equally relevant with other anti-inflammatories. As a result, it is often recommended to perform monthly (or at least, twice-annually) blood tests to confirm that the animal is not reacting adversely to the medications. Such side effects are rare but worth being aware of, especially if long-term use is anticipated.
This regimen can usually be maintained for the long term, as long as it is effective in keeping the symptoms of dysplasia at bay.
Some attempts have been made to treat the pain caused by arthritic changes through the use of "laser therapy", in particular "class IV laser therapy". Well-controlled clinical trials are unfortunately lacking, and much of the evidence for these procedures remains anecdotal.
Osteofibrous dysplasia is treated with marginal resection with or without bone grafting, depending on the size of the lesion and the extent of bony involvement. However, due to the high rate of recurrence in skeletally immature individuals, this procedure is usually postponed until skeletal maturity.
Treatment of manifestations: special hair care products to help manage dry and sparse hair; wigs; artificial nails; emollients to relieve palmoplantar hyperkeratosis.
There is no complete cure, although there are many options to alleviate the clinical signs. The aim of treatment is to enhance quality of life. Crucially, this is an inherited, degenerative condition and so will change during the life of an animal, so any treatment is subject to regular review or re-assessment if the symptoms appear to get worse or anything significantly changes.
If the problem is relatively mild, then sometimes all that is needed to bring the symptoms under control are suitable medications to help the body deal better with inflammation, pain and joint wear. In many cases this is all that is needed for a long time.
If the problem cannot be controlled with medications, then often surgery is considered. There are traditionally two types of surgery - those which reshape the joint to reduce pain or help movement, and hip replacement which completely replaces the damaged hip with an artificial joint, similar to human hip replacements.
Surgical removal of the lesion is the first choice of treatment for many clinicians. However, the efficacy of this treatment modality cannot be assessed due to insufficient available evidence. This can be carried out by traditional surgical excision with a scalpel, with lasers, or with eletrocautery or cryotherapy. Often if biopsy demonstrates moderate or severe dysplasia then the decision to excise them is taken more readily. Sometimes white patches are too large to remove completely and instead they are monitored closely. Even if the lesion is completely removed, long term review is still usually indicated since leukoplakia can recur, especially if predisposing factors such as smoking are not stopped.
Many different topical and systemic medications have been studied, including anti-inflammatories, antimycotics (target Candida species), carotenoids (precursors to vitamin A, e.g. beta carotene), retinoids (drugs similar to vitamin A), and cytotoxics, but none have evidence that they prevent malignant transformation in an area of leukoplakia.Vitamins C and E have also been studied with regards a therapy for leukoplakia. Some of this research is carried out based upon the hypothesis that antioxidant nutrients, vitamins and cell growth suppressor proteins (e.g. p53) are antagonistic to oncogenesis. High doses of retinoids may cause toxic effects. Other treatments that have been studied include photodynamic therapy.
Conservative therapies include NSAIDs, pain medication, weight management and exercise restriction. The problems with these therapies is that they do not work well, especially long-term.
There is no treatment necessary for any type of COD. Diagnosis is important so that the treating doctor does not confuse it for another periapical disease such as rarefying osteitis or condensing osteitis. Incorrect diagnosis could lead to unnecessary root canal treatments. It can be diagnosed by radiographic appearance. Confirming the tooth is vital, as is noting the demographic (African American females).
Polyostotic fibrous dysplasia is a form of fibrous dysplasia affecting more than one bone.
McCune-Albright syndrome includes polyostotic fibrous dysplasia as part of its presentation.
One treatment that has been used is bisphosphonates.
In cases of a minor deviation of the wrist, treatment by splinting and stretching alone may be a sufficient approach in treating the radial deviation in RD. Besides that, the parent can support this treatment by performing passive exercises of the hand. This will help to stretch the wrist and also possibly correct any extension contracture of the elbow. Furthermore, splinting is used as a postoperative measure trying to avoid a relapse of the radial deviation.
The development of tooth buds frequently results in congenitally absent teeth (in many cases a lack of a permanent set) and/or in the growth of teeth that are peg-shaped or pointed. The enamel may also be defective. Cosmetic dental treatment is almost always necessary and children may need dentures as early as two years of age. Multiple denture replacements are often needed as the child grows, and dental implants may be an option in adolescence, once the jaw is fully grown. Nowadays the option of extracting the teeth and substituting them with dental implants is quite common. In other cases, teeth can be crowned. Orthodontic treatment also may be necessary. Because dental treatment is complex, a multi-disciplinary approach is best.
The elbow is a complex joint, bears 60% of body load, and tolerates problems less well than the hips. As a result, elbow replacement is more complex than hip replacement, rehabilitation can take significantly longer, and some degree of lameness will remain. The surgery is classified as of 2010 as a "salvage" operation - that is, a last resort for an otherwise viable animal. Success rates of around 80 - 85% (approximately 5 in 6) were being discussed by sources in 2005 and again in 2008.
There are also fewer options if the replacement fails, the main option being arthrodesis (surgical fusion of the joint) which results in a pain-free but lame gait. However arthrodesis is itself a complex surgery with a long recovery time, and if arthrodesis is required, additional strain will be borne by other nearby joints, so other leg and shoulder conditions such as osteoarthritis may become more significant.
In 2012, Dr. Kirk Wendelburg, DVM, founder of Animal Specialty Group (ASG) in Los Angeles, collaborated with Swiss veterinary technology company, Kyon, to design an advanced elbow replacement system. This new system maintains the normal range of motion through the sagittal plane, around a normal center of rotation, while allowing normal supination and pronation. The compact design has no mechanical linkages between the elbow compartments, significantly reducing undue stresses which may lead to early failure. Dr. Wendelburg also invented the implantational procedure for the prosthesis. This repeatable, highly advanced procedure also allows the surgeon to make an intraoperative decision on whether a total or partial elbow replacement is needed. For example, a dog with only medial compartment disease may only receive a partial replacement. This intraoperative flexibility is possible due to the modular design of the implant. The system invented by Dr. Wendelburg is the first and only to allow for a, "Biomechanically Anatomical, Nonconstrained, Compartmental (BANC) Elbow Arthroplasty."
People with ED often have certain cranial-facial features which can be distinctive: frontal bossing is common, longer or more pronounced chins are frequent, broader noses are also very common. In some types of ED, abnormal development of parts of the eye can result in dryness of the eye, cataracts, and vision defects. Professional eye care can help minimize the effects of ED on vision. Similarly, abnormalities in the development of the ear may cause hearing problems. Respiratory infections can be more common because the normal protective secretions of the mouth and nose are not present. Precautions must be taken to limit infections.
Cemento-osseous dysplasia (COD) is a benign condition of the jaws that may arise from the fibroblasts of the periodontal ligaments. It is most common in African-American females. The three types are periapical cemental dysplasia (common in those of African descent), focal cemento-osseous dysplasia (Caucasians), and florid cemento-osseous dysplasia (African descent). Periapical occurs most commonly in the mandibular anterior teeth while focal appears predominantly in the mandibular posterior teeth and florid in both maxilla and mandible in multiple quadrants.
Pure hair-nail type ectodermal dysplasia is a genetic mutation in the "hair matrix and cuticle keratin KRTHB5 gene" that causes ectodermal dysplasia of hair and nail type. Manifestations of this disorder include onychodystrophy and severe hypotrichosis. It represents as an autosomal dominant trait.
Spondyloepimetaphyseal dysplasia, Pakistani type is a form of spondyloepimetaphyseal dysplasia involving "PAPSS2" (also known as "ATPSK2"). The condition is rare.
Acromicric dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation leading to short stature. Most cases have occurred randomly for no apparent reason (sporadically). However, autosomal dominant inheritance has not been ruled out.
According to the disease database, Acromicric dysplasia is synonymous with Geleophysic dysplasia
(or Geleophysic Dwarfism) and Focal mucopolysaccharidosis.
Early hip dysplasia can often be treated using a Pavlik harness (see photograph) or the Frejka pillow/splint in the first year of life with usually normal results. Complications can occur when using the Pavlik Harness. Cases of Femoral Nerve Palsy and Avascular Necrosis of the femoral head have been reported with the use of the Pavlik harness, but whether these cases were due to improper application of the device or a complication encountered in the course of the disorder remains unresolved. Complications arise mainly because the sheet of the iliopsoas muscle pushes circumflex artery against the neck of the femur and decreases blood flow to the femoral head, so the Frejka pillow is not indicated in all the forms of the developmental dysplasia of the hip.
Other devices employed include the spica cast, particularly following surgical closed reduction, open reduction, or osteotomy in babies and young children. Traction is sometimes used in the weeks leading up to a surgery to help stretch ligaments in the hip joint, although its use is controversial and varies amongst physicians.