STONEMAN SYNDROME

September 01, 2021

STONEMAN SYNDROME

STONEMAN SYNDROME:

Fibro dysplasia ossificans progressiva (FOP), commonly known as Stoneman syndrome or Munchmeyer disease, is an autosomal dominant connective tissue illness.

INTRODUCTION:

Abnormal ectopic ossification of the tendons, ligaments, skeletal muscles, and other soft tissues of the body characterizes the disorder. Smooth muscles do not play a role in this condition.

Bilateral hallux valgus deformity, monophalangic great toes, heterotopic ossification of muscles and connective tissues, short and broad femoral necks, pseudo exostoses, short first metacarpal/metatarsals, C2-C7 facet joint fusion, large posterior elements, and tall narrow vertebral bodies are all clinical features of this disorder.

The most prevalent cause of mortality in this illness is cardiac and respiratory failure, which occurs as a result of significant chest wall movement limitation.

Fibrous dysplasia most commonly affects a single bone. however, it can sometimes affect numerous bones. Adolescents and young adults are more likely to have single bone involvement. Symptoms usually appear before the age of 10 in people who have more than one afflicted bone.

ETIOLOGY:

Fibro dysplasia ossificans progressiva is caused by mutations in the ACVR1 (Activin A receptor type I) gene. This gene codes for a member of the bone morphogenetic protein (BMP) type I receptor family of proteins. The ACVR1 protein is found in skeletal muscle and cartilage, among other tissues.

Mutations in the ACVR1 gene have been shown to affect systems that govern the receptor's function. As a result, the receptor is activated when it is not supposed to be. The signs and symptoms of fibro dysplasia are caused by excessive receptor activity, which causes overgrowth of bone and cartilage. ossificans progressiva ossificans progressiva ossificans progress.

SIGNS AND SYMPTOMS:

Fibrous dysplasia can manifest with little or no symptoms, especially if the illness is moderate. Fibrous dysplasia that is more severe can lead to:

Bone pain is commonly described as a dull ache that ranges from mild to moderate.

Swelling

Deformity of the bones

Fractures of the bones, especially in the arms and legs

Leg bones' curvature

Fibrous dysplasia can affect every bone in the body, although the following are the most typically affected:

Kneebone (femur)

Shinbone is a bone in the shin (tibia)

Bone in the upper arm (humerus)

Skull

Ribs

Pelvis

Fibrous dysplasia is occasionally linked to a disease that impairs your endocrine system's hormone-producing glands. The following are examples of abnormalities:

Early adolescence

Hormone production that is too active

Skin with light brown dots

Increased bone pain may also be linked to menstrual cycle or pregnancy-related hormonal changes.

INCIDENCE:

fibro dysplasia ossificans progressiva (FOP) is an extremely rare condition that affects about one in every two million people globally. FOP strikes predominantly in the first two decades of life, and it has no ethnic, racial, gender, or geographic predisposition.

DIAGNOSIS:

The presence of three important criteria congenital deformity of the great toes, progressive heterotopic endochondral ossification, and disease progression in well-defined anatomical and temporal patterns, is commonly used to diagnose FOP. During flare-ups, laboratory testing may reveal a little increase in the erythrocyte sedimentation rate.

Imaging tests like radiography and computed tomography can reveal the heterotopic bones and help confirm the diagnosis.

TREATMENT:

Currently, there is no cure for FOP. There is also no one-size-fits-all approach to treatment. Because existing treatments are ineffective for all patients, the primary goal is to manage symptoms and inhibit bone development wherever possible.

The treatment decisions made to manage pain and other symptoms associated with FOP will be based on the specific needs of each patient. The following treatment is given in order to improve the quality of life of patient.

high-dose Prednisone or another corticosteroid during a flare-up.

Drugs like Rituximab (typically used to treat rheumatoid arthritis)

iontophoresis, which uses an electric current to deliver medicine through the skin.

muscle relaxants or injections of a local anesthetic

non-steroidal anti-inflammatory drugs (NSAIDs)

bisphosphonates which usually protect the bone density.

REFERENCES:

1) M. Dhivakar, Anjali Prakash, Indian journal of musculoskeletal radiology, vol 2(1) page no 69-72, 2020-06-29.

2) MedlinePlus Fibro dysplasia ossificans progressiva: causes.

3) Mayo clinic Fibrous dysplasia: signs and symptoms.

4) Zakir Ali Shah, Sascha Rausch, journal of medical case reports ,13 article number: 364 (2019).

5) Very well health an Overview of fibro dysplasia Ossificans Progressiva (updated on January 30 ,2020)