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0mediterranean journal 32
of RHEUMATOLOGY 2021
©Mishra D, Dhooria A.
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CLINICAL IMAGE
A Rare Grotesque Skeletal Deformity: Munchmeyer's Disease
Debashish Mishra1 , Aadhaar Dhooria2
department of Internal Medicine, Rheumatology and Clinical Immunology, Post Graduate Institute of Medical Education and Research, Chandigarh, India, 2Consultant Rheumatologist, Department of Rheumatology, Santokba Durlabhji Memorial Hospital, Jaipur, India
Mediterr J Rheumatol 2021;32(1):91 https://doi.org/10.31138/mjr.32.1.91
Article Submitted: 25 Aug 2020; Revised Form: 8 Dec 2020; Article Accepted: 10 Jan 2021; Available Online: 31 Mar 2021
Keywords: Fibrodysplasia, myositis, ossificans, genetic, musculoskeletal
Fibrodysplasia ossificans progressiva (FOP), or Munchmeyer's disease, is a rare deforming skeletal anomaly caused by intramuscular ossification. Here, we present the clinical images of a patient with this rare grotesque deforming disease.
A 20-year-old gentleman presented to our clinic with inability to open his mouth and difficulty in eating. Progressive deformities had been noticed starting at the age of two and a half months, following intramuscular tetanus immunisation. At present, patient was unable to abduct his arms or stand straight. Examination revealed a hard sheet-like structure binding his arms to the chest and kyphoscoliosis (Figure 1A) and shortened great toes (Figure 1B). Hip movements were limited. A hard submandibular swelling was noted, grossly limiting jaw movements. Radiographs revealed ossification of latis-simus dorsi bilaterally (Figure 1C) and monophalangic great toes, confirming a diagnosis of FOP. Patient and family was counselled about the disease, aggravating factors, and avoidance of intramuscular injections.
FOP is a rare disorder (1 in 2,000,000), caused by an autosomal dominant
Corresponding Author:
Aadhaar Dhooria
Consultant Rheumatologist
Department of Rheumatology, Santokba
Durlabhji Memorial Hospital
Jaipur, India 302015
Tel.: +91 896 854 6315
E-mail: aadhaardhooria@gmail.com
mutation in ACVR1 gene on chromosome 2q 23-24, encoding bone morphogenetic protein (BMP) typel receptor.1 There is no proven treatment yet, except for several trials with nitrogenous bisphosphonates,2 and few ongoing ones with drugs like palovarotene (MOVE), garetosmab, (LUMINA-1), rapamycin, and saracatinib (STOPFOP group). Avoidance of any sort of trauma is primary to prevent disease progression.
CONFLICT OF INTEREST
The authors declare no conflict of interest.
REFERENCES
1. Pignolo RJ, Shore EM, Kaplan FS. Fibrodysplasia Ossificans Progressiva: Diagnosis, Management, and Therapeutic Horizons. Pe-diatr Endocrinol Rev 2013;10(2):437-48.
2. Dua T, Kabra M, Kalra V. Familial fibrodysplasia ossificans progressiva: trial with etidronate sodium. Indian Pediatr 2001;38(11):1305-9.
Figure 1. Clinical photograph showing kyphoscoliosis (A) and short first toe in both feet (B) and radiograph showing ossification of right latissimus dorsi muscle (C).
Cite this article as: Mishra D, Dhooria A. A Rare Grotesque Skeletal Deformity: Munchmeyer's Disease. Mediterr J Rheumatol 2021;32(1):91
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