case report

Fibrodysplasia Ossificans Profressiva: The Importance of the Early Recognition and a Dramatic Case Report

Patricia L.R. Delai1*, Clive Schneider Friedman2

1Consultant Doctor for the Brazilian FOP Association, Hospital Israelita Albert Einstein, Instituto de Ensino e Pesquisa, São Paulo-SP, Brazil

2Pediatric Dentistry, Schulich School of Medicine and Dentistry, London, Ontario, Canada

*Corresponding author: Patricia L.R. Delai, Consultant Doctor for the Brazilian FOP Association, Hospital Israelita Albert Einstein, Instituto de Ensino e Pesquisa, São Paulo-SP, Brazil

Received Date: 20 October 2022

Accepted Date: 24 October 2022

Published Date: 26 October 2022

Citation: Delai PLR, Friedman CS (2022) Fibrodysplasia Ossificans Profressiva: The Importance of the Early Recognition and a Dramatic Case Report. Ann Case Report. 7: 1007. DOI: https://doi.org/10.29011/2574-7754.101007

Abstract

Fibrodysplasia ossificans progressiva (FOP) is a rare, disabling genetic condition characterized by congenital malformations of the great toes and progressive heterotopic ossification (HO) in specific anatomic patterns. FOP is the most catastrophic disorder of HO in humans.

Fop is rare and affects 1:1, 4 million births [1].

FOP flare-ups are episodic; immobility is cumulative. A common mutation in activin receptor IA (ACVR1), a bone morphogenetic protein (BMP) type I receptor, exists in all sporadic and familial cases with a classic presentation of FOP. Approximately 97% of individuals with FOP have this recurrent mutation. Approximately 3% of affected individuals have a variant mutation in ACVR1, but all individuals with FOP have mutations in the ACVR1 gene.

Individuals with FOP appear normal at birth except for characteristic malformations of the great toes that are present in all classically affected individuals - 97% [2]. During the first decade of life, most children with FOP develop episodic, painful inflammatory soft tissue swellings (called flare-ups) [3]. These are often mistaken for tumors. Misdiagnosis is common and iatrogenic harm is high.

The FOP gene was identified in 2006 and until that year many people were already diagnosed with FOP just by the observation of its clinical features [4].

Since the recognition of the malformed big toes at birth can raise the possibility of the diagnostic of FOP at birth, the authors believe that this simple inspection of the toes at birth can decrease significantly the number of misdiagnosis and procedures that can do harm to the patient.

Keywords: Fibrodysplasia Ossificans Profressiva (FOP); Heterotopic ossification; Bone morphogenetic protein; Activin receptor I.

Case Report

M, female, Caucasian, was born and diagnosed with increased muscle tension. Since birth, she was under the care of a neurologist and a physiotherapist that prescribed and administered her physiotherapy and massages that according to the doctor would decrease the muscular tension of her body.

The patient’s mother noticed that her big toes looked different from "normal" at birth. When she brought this to the attention of the doctors, she was informed that it was just a hallux deviation, which was a normal characteristic of the girl’s body. She was told that there was no cause for concern.

When M was one month old the mother noticed that her head started to take a different shape and asked a neurologist and physiotherapist about it. Their opinion was that her sleeping position was the root cause and advised special pillows and physiotherapy.

After four months the patient was referred to a neurosurgeon who after a head scan, MRI and biopsy of a nodule on the scalp (Figure 1) said the patient had Desmoid Fibromatosis.


Figure 1: Place where the biopsy was performed.

An operation was performed to remove the bone with the tumor. The doctor transplanted the bone from the top of her head Figure 2.