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Volume 34, Issue 4, December 2023



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Mediterr J Rheumatol 2021;32(1):91
A Rare Grotesque Skeletal Deformity: Munchmeyer’s Disease
Authors Information

1. Department of Internal Medicine, Rheumatology and Clinical Immunology, Post Graduate Institute of Medical Education and Research, Chandigarh, India

2. Consultant Rheumatologist, Department of Rheumatology, Santokba Durlabhji Memorial Hospital, Jaipur, India

Debashish Mishra, Aadhaar Dhooria

Abstract
This paper has no abstract.

Article Submitted: 25 Aug 2020; Revised Form: 8 Dec 2020; Article Accepted: 10 Jan 2021; Available Online: 31 Mar 2021

https://doi.org/10.31138/mjr.32.1.91

This work is licensed under a Creative Commons Attribution 4.0 International License (CC-BY). 

©Mishra D, Dhooria A.

Full Text

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 latissimus 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.


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).
 


FOP is a rare disorder (1 in 2,000,000), caused by an autosomal dominant mutation in ACVR1 gene on chromosome 2q 23-24, encoding bone morphogenetic protein (BMP) type1 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. Pediatr 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.