|Year : 2018 | Volume
| Issue : 3 | Page : 206-208
Fibrodysplasia ossificans progressiva mimicking as fibroma with hypospadias
Varun Kaul1, Gurmeet Kaur Sethi1, Harshvardhan Gupta1, Lokesh Lakhwad1, Sunil Kumar Raina2
1 Department of Pediatrics, Guru Gobind Singh Medical College and Hospital, Faridkot, Punjab, India
2 Department of Community Medicine, Dr. RP Government Medical College, Kangra, Himachal Pradesh, India
|Date of Web Publication||24-Sep-2018|
Guru Gobind Singh Medical College and Hospital, Faridkot - 151 203, Punjab
Source of Support: None, Conflict of Interest: None
Fibrodysplasia ossificans progressiva (FOP) is a rare disease characterised by recurrent painful episodes of swelling in soft tissue and the occurrence of tumours in subcutaneous and muscular tissues. It causes severe disability and has an autosomal dominant penetration. We report a child with diffuse heterotopic ossification with characteristic hallux valgus of both the toes who was diagnosed inadvertently as multiple cutaneous fibromatosis before presenting to us. A very rare genetic syndrome was characterised on the basis of clinical manifestations and diagnosed in a peripheral tertiary institute. A diffuse soft-tissue enlargement is not always cancer and calcification therein may be FOP.
Keywords: Fibrodysplasia ossificans progressiva, fibroma, hypospadias, mimicking
|How to cite this article:|
Kaul V, Sethi GK, Gupta H, Lakhwad L, Raina SK. Fibrodysplasia ossificans progressiva mimicking as fibroma with hypospadias. Adv Hum Biol 2018;8:206-8
|How to cite this URL:|
Kaul V, Sethi GK, Gupta H, Lakhwad L, Raina SK. Fibrodysplasia ossificans progressiva mimicking as fibroma with hypospadias. Adv Hum Biol [serial online] 2018 [cited 2020 Apr 7];8:206-8. Available from: http://www.aihbonline.com/text.asp?2018/8/3/206/241931
| Introduction|| |
Fibrodysplasia ossificans progressiva (FOP) has an autosomal dominant inheritance with complete penetration although gene expressivity may be variable. Genetic analysis reveals that FOP maps to band 4q27-31, a region which has at least one gene related to bone morphogenic protein (BMP) signal pathway. This condition is usually multifocal and starts developing mostly after trauma. BMP Type I receptor ACVR1 mutation causes inherited and sporadic FOP. The lesions in FOP are soft-tissue indurations which are tender and rubbery in consistency and are precipitated usually by trauma. Paraspinal muscles and limb girdles are usually involved. These can also affect the tendons, ligaments and fascia with some undergoing ossification. Hallux valgus deformity (usually present at birth), torticollis (sternocleidomastoid muscle involvement), joint immobilisation (due to ossification of periarticular area) and thorax deformity (anteroposterior and lateral) are the usual clinical presentations.
We, herein, report a case of FOP.
| Case Report|| |
A 6-year-old male child with height 106 cm (3rd percentile, −1.86 SD) and weight 18 kg (14th percentile, −1.08 SD) presented with a history dating back to when the child was 4 years old when he developed swelling over the occipital area which according to the parents was hard in consistency and simultaneous swellings diffusely over infrascapular regions bilaterally. They were initially painless. Fine-needle aspiration cytology (FNAC) was performed which revealed fibroblastic proliferation in the involved area, and the patient was diagnosed as diffuse fibromatosis. The child progressively developed torticollis toward right side and stiffening over the nape of neck and inability to flex the neck even to a mid-flexion range with painful movements. There was a hard nodular swelling over right occipital region, and there were multiple hard nodular prominences in the paraspinal, infrascapular and medial scapular regions which were tender. All the new lesions flared up after the initial FNAC. There was a characteristic hallux valgus present in both the feet, and X-ray and computed tomography (CT) scan showed heterotopic calcification involving the soft tissue of the nape of the neck, and all the nodular areas seen on clinical examination. There was an associated hypospadias with urethral opening located at the penile base [Figure 1], [Figure 2], [Figure 3], [Figure 4]. There was also a history of urinary incontinence. All the routine biochemical investigations including those for calcium metabolism (serum calcium, serum phosphorous, serum alkaline PO4, at 25-OH Vitamin D levels) were in normal limits, although alkaline phosphatase was on the higher side, which may be because of the growing age of the child. Parathyroid hormone levels were not done as the facility for the same was not available.
|Figure 2: Hypospadias and paraspinal and infrascapular nodules (heterotopic calcification).|
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|Figure 3: Heterotopic calcification in the paraspinal region seen on contrast-enhanced computed tomography chest.|
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| Discussion|| |
Our report makes a note of a very rare diagnosis which can be confused with certain conditions such as dystrophic calcification (e.g., calcinosis cutis), scleroderma, Raynaud phenomenon, motility disorders of oesophagus, sclerodactyly and telangiectasia (CREST syndrome); Ehlers–Danlos syndrome, panniculitis; some skin cancers; after trauma, metastatic calcification and iatrogenic calcification (extravasation of intravenous calcium chloride and calcium gluconate therapy).
FOP manifestations include abnormal great toe shape, long bones with exostoses and cervical vertebral fusion which is clearly evident in our case. The most characteristic manifestations are bony mass areas penetrating into muscles (paraspinal region being the prime area) as is evident in our case. The best method for detection of early FOP lesions is through a CT scan, which in our case did pick up the heterotopic calcification. There is an increased uptake of radiolabelled diphosphonate on bone scintigraphy before ossification can be demonstrated by radiographic examination, which was not done, in our case, as there was clinically evident calcification already present. Biopsy is generally not performed in FOP as the risk of developing lesions in areas of trauma is more frequent. The FNAC done initially was inadvertent, and there was a history from the parents that the disease activity did flare up after that. In flare-ups, bisphosphonates and corticosteroids are somewhat helpful. FOP can be diagnosed even during the neonatal period. The child's diagnosis in our case was missed till the age of 6 years. Genetic testing was not possible because of the non-availability of such tests in our setup. Early treatment of FOP helps avoid the aggravating factors, slows the progression of disease and provides the children with better quality of life. FOP patients might require oral surgical and anaesthetic procedures for control of oral pain. Minimally invasive surgical technique with appropriate anaesthetic management is always stressed. No effective medical therapy is known for FOP. Rituximab has been used in some cases.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]