 Good morning everyone. This is Dr. Guili. I am a post-doctoral president of the Department of Failure Diagnosis at the MCH in Kondak. So today I'm presenting a very, very case of fibroids spacial ossificates progressive. And the reason I have titled the story of a living statue will be accurate to you all after we go through the slides subsequently. So on a green clinical history, it was a six years female who presented to us with complaints of a sheet-like heart-boning thickening in the midline over the back. And there was restricted movement of the left arm, bending of the head and neck to left side. And I'm inquiring the patient's cartilage revealed that the neck abnormality was noticed just after birth. And the heart-boning thickening with nodules in the back were actually progressing as the child aged. And there was no significant anginital or natural history or significant past medical or surgical history. On a part of clinical examination, there was a sheet-like heart palpable boning thickening that was overlying the spine. And this one is a boning thickening that was overlying the spine. And as you can see, it was in an inverted, wide-shaped manner and was apparently forming fusions with the adjacent skeletal structures, that is the iliac blade or the ribs, and the multiple branching points. There was bilateral halux valve deformity, restricted movement of bilateral shoulder joints more on the left side, and there was a tauticalis to the left. Any other relevant investigations like the cashier, vitamin D and paratomones were all benign. And bone scans and mutation studies could not be performed because of financial constraints. With this clinical examination, we proceeded for an x-ray which collaborated with the clinical findings. There was a dense radiopic band-like structure that was overlying the spine, multiple branching ossifications that was forming fusions with the adjacent vertebrae and the bilateral iliac blades. The band-like ossification that was overlying the spine was actually forming a few branching points and was seen fusing with the spine of the thoracics and the cervical vertebrae. There were multiple bands of ossification also noted in bilateral shoulder girdle. It was bridging the shoulder joints and was forming false joints with the ribs medially and the shaft of the humerus laterally. And this explains why the patient had a restricted movement of the shoulder joints. With this, we also saw on the ultrasound that these body findings were actually present in the subcutaneous tissue and they were interspersed with a few nodules and these nodules did not show any apparent inflammatory changes as such. With this, we proceeded for a CT scan which revealed that there was a dense bone formation that was walking in the extra skeletal site and these bones were forming apparent fusion points that is, were forming false joints with the ribs medially, the humerus laterally and the scapula posteriorly. In this video also, we can see that there was bony thickening that was actually lying in the subcutaneous tissue as well as in the intermuscular fascial planes and they were forming, as we can see here, they were forming false joints with the shaft of the humerus and the scapula also posteriorly. Now, this was a head and neck CT that also revealed such similar ossifications in the paravirtical muscles and these ossifications are seen to form false joints with the superior border of the scapula. Similarly, at the insertion point of the sternocleidomastoid, near the mastoid process, we saw ossifications and it was partly ossified. As we can see in this image, this one here is the mastoid process and in the sternocleidomastoid muscle, we can see that it was partly ossified. Similarly, the paravirtical muscles in the, within the muscles and also within the intermuscular fascial planes, they were ossification, especially in the erector spiny and the trapezius muscles. The heart bony thickening that was present in the midline was also forming false joints with the spine of the thoracic vertebrae at several levels. Now, coming up to the discussion, with all these radiological findings, our provisional diagnosis was that of fibrotus glacia ossificens progressiva or stone man disease. Even though rare it should be kept in mind and the most important thing to stress upon here is that the incidence is very less, that is 1 in 2 million people and it's a very rare, extremely rare autism and dominant disorder. Although most of the cases that can occur sporadically, as in our case, the patients family, there was no family history, so ours was a sporadic case. The pathogenesis to explain is that there's ectopic osteogenesis that occurs because of a mutation in ACVR1 gene. It starts at around 3 to 5 years of age with a slight female pre-continence and because extremely disabling, extremely morbid condition, the patients become bedridden around the fourth decade of life and the death usually results because of thoracic insufficiency syndrome. Primarily, it involves the actual spinal musculature and then progresses outwards in the tentripetal manner from axial to appendicular skeleton, from cranial to caudal and then proximal to distal. And it can almost involve every other structure, every other soft tissue present, like it can involve the ligaments, the fasa, the muscles itself, the aponeurosis, tendons and joint capsules and gradually these heterotopic bones that will fuse with the adjacent skeleton and that will result in restricted movement of the patient. Coming to the clinical features, neck pain is one of the earliest symptoms present, but the hallmark of this disease is two things. One of it is that there's extra skeletal ossification in the centrifugal pattern it will progress. And another thing is that typically there is malformed grape dose that is present since birth, usually it is a halux valgus deformity which is also present in our case. Other clinical features that can be present is the short first metacarpal, a brachy mesophilogy of the fifth finger, canodacty, a malformed first metatarsal, tbl osteopondromas, short broad femoral index, bands of ossification that will bridge the axial with the appendicular skeleton especially around the shoulder joints, increased vertebral index that is the vertebral height to the vertebral ap diameter will be increased in cervical and lumbar spine. There can be fusion of the posterior elements of the cervical spine and narrowing of the lumbar spine together. Now in severe cases and progressive cases there can be ankylosus of the T-in joint of the temporal mandibular joint and that can lead to reduced mouth opening and severe weight loss of the patient. There can be ankylosus of the postopartibular joints, ossification of the intercostal muscles and that will include thoracic insufficiency syndrome and patients will ultimately become dependent on its diaphragm because diaphragm here is actually spared. There can be tyroscoleosis or thoracic lodosis and patients usually experience two to three flare-ups per year and these flare-ups are usually to trigger most commonly trauma even a trivial trauma can cause flare-ups and these flare-ups will eventually they will present as soft tissue nodules and they will then progress from contour to ossification and heart bone formation. So that's the reason why immunization by any trivial trauma any biopsy or intervention should be involved in this patients. And one thing to note over here is that the diaphragm, cardiac and smooth muscles, tongue and extraocular muscles are typically spared in these cases. Now this picture I've taken from an article. These are the patterns of presentation of this disease. It can be a nodule on the scalp or a nodule on the back. It can be in the form of many ribbons which was actually our case and it can also present with deformities. Now these are the five stages that a fog case progresses through. Ours was an early mild case where there was heterotopic bone formation in the neck back and upper lids with minimal and no assistance that's required for the patient. In wanted cases it's the lower limbs and chest one muscles that are involved with limited chest expansion may require some assistance. In late cases there will be a chylosis of the jaws. There will be rigid chest wall with no chest expansion will require assistance for most of the activities. In profound cases there will be a chylosis and a bone formation that is involving the wrists and the ankles and most of the joints will be chylosed and the patient will present with symptomatic thoracic insufficiency syndrome. In the end stage all the joints will be involved. The patient will become symptomatic because of thoracic insufficiency syndrome plus will be dependent and will become a burden to the family members. Now according to the mutation it can be of three different types. It can be typical whether it will be homozygous mutation. In atypical cases there will be heterozygous mutation or it can be a variant software. There will be major variations in one of both the critical features. There are a few modalities, imaging modalities that can help us in diagnosing a case of fibroids brisciosephicens and X-ray as we have already discussed. What the findings will be we have already seen. A CT will also help us because it will help in precisely evaluating the extent and the location of the heterotopic ossification and an MRI the role of it is to identify the degree of software involvement and the involvement of adjacent structures the neural or vascular structures plus MRI will also help us in differentiating whether it's an active inflammation present or whether it's just a mature heterotopic bone. Now the three different stages of a fibroids brisciosephicens in the early stage it's a preosciesthesians that is the radiographs will show soft tissue swelling joint effusions and irregular soft tissue densities adjacent to joints. In the ossification stage these preosciesthesians will progress to frank ossification so there will be dense irregular opacities in the form of ball club light structures and during flare ups there will be soft tissue density inflammation and joint effusions. Now it's usually a clinical and radiological diagnosis because most of the times the radiology the lab parameters are usually normal but sometimes the alkaline phosphorous can be high in our case most of the lab parameters were normal. Then one thing to stress here is that diagnostic and interventional procedures should be avoided by FCA's, FNSS, the urgent is it should be avoided because any trivial trauma musculoskeletal trauma can induce a rapid ossification in that area will lead to flare ups and progression of ossification and the sad thing is that it's almost an incurable disease and there's no effective treatment available till now. Until recently US FDA has approved a drug that is Palovarotine which is a selective retinoid receptor gamma iconist. Now how it acts is that what actually happens is that during a trauma a musculoskeletal trauma what is released is active in A what it's supposed to produce is muscle cells but because of mutation in ACBR1 because of mutation in ACBR1 where even though when active in A attaches to the cell receptor if it's mutated the bone morphogenic protein will lead to phosphorylation of SMAT and that lead to excessive heterotopic bone formation and what Palovarotine does here is that it will inhibit the phosphorylation of SMAT and has two regimens one is for the chronic regimen and one is the flare up regimen the chronic regimen is five milligram daily, whereas the flare up regimen the dosing is increased to 20 milligram daily for four weeks and then reduced to 10 milligrams daily for eight weeks but this is just a recently approved drug that we need to see the efficacy of the drug but the most commonly used drug still now is corticosteroids or corticosteroids that are used in flare ups and further we can also use NSAIDs and muscle relaxants. The most important here is that prevention of flare ups by reducing or restricting activities by using protective gears to minimize injuries and avoid injections, avoid excessive trauma, avoid excessive surgeries and prevent viral infections or respiratory infections. Now because it's such a typical disease there are very few differentials one of them is progressive, nauseous, heteroplasia then there's aggressive juvenile fibromytosis but in these cases we do not find the typical hallmark of bilateral helix valgus deformity then another differential can be myosidous ossificans, calcinosis interstitialis ossificans, hypervitaminosis D and pseudo hyperparamperoid now before concluding I would like to point out the relevance of the stock now this disease it's an extremely rare disease as evolved is in one in two million is the incidence of the disease so it's very much required to raise awareness about this disease so the fork of awareness day is 23rd of April now we as radiologists can help in early detection of the disease and that in that way we can want the physician can want the surgeons to not perform surgeries or interventional procedures that need to unnecessary flare ups and for the progression of the disease plus it usually it is a fork actually classifies currently as an incurable disease and to break the news to the family is extremely difficult so proper counseling of the family members and adequate support should be provided there are many organizations that are working relentlessly to raise awareness plus they're also generously extending their hands towards helping the family members reduce their burden one of the organizations is iTropa that is International Fork Association which also has a branch in India and recently I did try to contact with the association so as to know whether how exactly we can help out the family whose child was diagnosed with fork recently so that's all I would like to conclude now thank you