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Clinical History

A 38-year-old woman with no history of trauma consulted her physician complaining of a lifelong generalized pain, with limited mobility of her right upper limb and a deformity of the right elbow. No contralateral or lower limbs abnormalities. Laboratory tests (serum levels of calcium, phosphate, parathyroid hormone, Vit.D) were normal.

Imaging Findings

New bone formation with a reticular pattern is observed around the upper right limb (from shoulder to the forearm), affecting the skin, subcutaneous cellular tissue, tendons and muscles(figure 1). Contralateral limb had no abnormalities (figure 2). There is also deformity of the distal humerus, ulna and radius, and a luxation of the radius with neo-articulation of the radius to the humerus (figure 3).
Bone scintigraphy showed uptake in the upper right limb and parasternal right region.
Genetic test was positive for GNAS mutation, which helped achieve the diagnosis.

Discussion

Progressive osseous heteroplasia (POH) is a very rare genetic disorder characterized by dermal ossification during infancy with progressive heterotopic ossification of skeletal muscle and deep connective tissue [1, 2, 3]. It is caused by an inactivating mutation in the GNAS gene, which regulates osteogenesis [1]. Albright hereditary osteodystrophy (AHO), osteoma cutis and fibrodysplasia ossificans progressiva (FOP) are also related to GNAS mutation. POH can be distinguished from other GNAS associated disorders by the progression of heterotopic ossification from skin and subcutaneous tissue into skeletal muscle, the absence of a distinctive habitus associated with AHO (obesity, short stature, shortened fourth and fifth metacarpals, rounded facies, and often mild mental retardation), and the presence of normal endocrine function [1, 2].
POH begins during infancy with the formation of islands of heterotopic bone in the dermis that coalesce into plaques which gradually involve the subcutaneous fat, skeletal muscle, and deep connective tissues. Extensive ossification of the deep connective tissues results in ankylosis of affected joints and growth retardation of involved limbs[1].
Bone scintigraphy shows pathological increase uptake in the regions of calcified soft tissue.
Radiologically, the calcified plaques show a reticular pattern and follow an anatomic progression from proximal to distal (unlike in FOP), and from the subcutaneous tissue into the deep muscle. Characteristically, heterotopic bone formation is unilateral [1].
Diagnosis is provided by the clinical history, the absence of somatic abnormalities, the presence of normal laboratory tests, the typical radiological findings, and the genetic test (GNAS mutation)[1, 2].
There is no specific treatment. Surgical resection can lead to recurrences. Some researchers investigated the results of bisphosphonate therapy but more long-term studies are needed in this area [1]. Our patient is on treatment for chronic pain.

Written informed patient consent for publication has been obtained.

Differential Diagnosis List

Progressive osseous heteroplasia

Albright hereditary osteodystrophy

Fibrodysplasia ossificans progressiva

Final Diagnosis

Progressive osseous heteroplasia

Liscense

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Figures

Rx AP right humerous

Rx AP left humerous

AP and LAT radiography of right elbow

Medical Imaging Analysis Report

I. Radiological Findings

Based on the provided X-ray images of the right upper limb and right elbow joint, the following observations are noted:

Multiple abnormal calcifications or ossifications can be seen in the soft tissues of the shoulder joint and proximal humerus, appearing in patchy, cord-like, and reticular distributions, with some extending into the deeper soft tissues.
At the elbow joint, a distinct ossification shadow is visible. Irregular calcifications are also present in the deep tissues around the joint, accompanied by localized joint deformity and involvement of the joint space.
No obvious bony destruction or signs of pathological fracture are observed in the overall bone structure.
The morphology and distribution of the calcifications in the affected areas suggest heterotopic ossification within the soft tissues, rather than mere deposition of calcium salts.

These findings correlate with the patient's long-term limited mobility, indicating a pathological process of progressive heterotopic ossification in the soft tissues.

II. Potential Diagnoses

Progressive Osseous Heteroplasia (POH)
This disease is caused by a rare mutation in the GNAS gene. It is characterized by heterotopic ossification within the skin, subcutaneous, and deeper soft tissues. Patients typically do not show other systemic abnormalities, and standard laboratory tests (such as serum calcium, phosphorus, and parathyroid hormone) are generally normal.
Fibrodysplasia Ossificans Progressiva (FOP)
Although FOP also presents with heterotopic ossification, it commonly features characteristic toe or finger deformities and tends to progress in a cranial-to-caudal pattern. Radiologically, its distribution may differ; clinically, it often shows earlier progressive hardening and deformities in different regions of the body.
Idiopathic or Post-Traumatic Tendon/Muscle Calcification (e.g., Myositis Ossificans)
Myositis ossificans is commonly associated with a history of trauma or infection and is usually more localized. In this case, there is no clear history of trauma, and the lesions are diffuse and progressive, involving multiple tissue layers, which makes this diagnosis less likely.
Albright’s Hereditary Osteodystrophy (AHO)–Related Changes
AHO is also linked to GNAS mutations and may present with short metacarpals (especially the fourth and fifth), obesity, round face, and potential endocrine dysfunctions. These clinical features do not match this patient’s presentation.

III. Final Diagnosis

Considering the patient’s lifelong history of widespread pain, deformity of the right upper limb, restricted joint mobility, radiographic evidence of progressive heterotopic ossification in soft tissues, and normal basic laboratory results (calcium, phosphate, parathyroid hormone, vitamin D), the most likely diagnosis is:

Progressive Osseous Heteroplasia (POH)

Subsequent genetic testing (GNAS gene mutation) may provide direct confirmation of the diagnosis.

IV. Treatment and Rehabilitation Plan

Currently, there is no definitive cure for this condition. Main treatment and rehabilitation strategies include:

Medications and Conservative Management
- Pain Management: Nonsteroidal anti-inflammatory drugs (NSAIDs) or other analgesics may be prescribed to control chronic pain.
- Regulation of Bone Metabolism: Although bisphosphonates have been explored in some studies, their long-term efficacy remains unclear.
Surgical Intervention
If heterotopic ossification severely impairs joint function or quality of life, surgical removal may be considered. However, recurrence is common post-surgery, and careful assessment of risks and benefits is advised.
Rehabilitation and Exercise Prescription
- Goal: Maintain or improve joint range of motion as much as possible, minimize muscle contractures, and enhance functional independence.
- Principle of Gradual Progression (FITT-VP):
  • Frequency: Rehabilitation exercises 3-5 times per week.
  • Intensity: Focus on low-to-moderate intensity activities; avoid high-intensity or large-range stretching to prevent further soft tissue damage or ossification.
  • Time: Each session 20-30 minutes, gradually increasing to 30-45 minutes.
  • Type: Passive or active range-of-motion exercises, mild strength training (e.g., with resistance bands or light dumbbells), and water-based exercises to reduce stress on joints.
  • Volume & Progression: Increase training volume gradually based on tolerance of joint mobility and pain. Additional exercises and mild resistance can be introduced in phases.
- Supportive Measures:
  • Physical therapy modalities such as heat therapy and ultrasound therapy to alleviate muscle tension, improve local circulation, and reduce pain.
  • For significantly restricted joint mobility, stretching within a safe range should be done under the guidance of a rehabilitation professional or physical therapist with close monitoring.

Disclaimer: This report is a reference analysis based on the provided medical history and imaging information. It does not replace an in-person consultation or professional medical advice. If you have further questions or experience worsening symptoms, please seek medical attention promptly.

Human Doctor Final Diagnosis

Progressive osseous heteroplasia

AI Doctor