Case Report: Occupational therapy in a patient with an overgrowth syndrome that restricts movement

Patient information

Our patient is a man aged 59 years, and is currently employed in an office, who suffers from an asymmetric overgrowth of the lower limbs. This pathology is benign and localized. The abnormal growth process of the left leg began at the age of 18 months and led to the amputation of the distal phalanx of the second finger, which was repeated for recurrence at the age of 4 years. At 35 years the patient underwent subtotal amputation of the first finger and the removal of calcification of the back of the left foot. At the age of 40, he underwent surgical revision of the first finger and amputation of the distal third and fourth finger phalanges.

Over the years, cerebriform connective tissue nevi (CCTNs) has developed on the left upper limb and has undergone surgical treatment of the suspected malignant nevi.

Clinical findings

The patient’s speech is fluent and his understanding complete. He presents with good personal and social fulfillment (there are no malformations that can disturb the aesthetic appearance of the face). General conditions of the patient are good, from the diagnostic tests performed (medical visit, E.K.G., ultrasonography, spirometry) there are no alterations of the cardio-circulatory system, pulmonary or sensory apparatus. Laboratory tests are normal.

Currently the patient presents with malformations of the lower left limbs (hip, knee and ankle), evident on the articular and periarticular level, where there are diffuse exostoses. At the hip level, the exostotic formations do not result in reductions of the joint range of motion (ROM). More serious is the situation proceeding distally, where the knee malformations reduce the ROM in a range between 27 and 90 degrees in flexion-extension. At the level of the medial tibial segment a bone exostosis is found on the deep planars, ~4 cm of diameter (Figure 1, Figure 2).

Figure 1. At the level of the medial tibial segment, bone exostosis can be observed on the deep planars, ~4 cm of diameter.

Figure 2. Amputation of the distal phalanges of the first, second, third and fourth fingers, repeated due to recurrence.

In 1989 the tibial area was the site of surgical removal of an intra and extra capsular fibrolipomatous bulk, about 5 cm in diameter, excision of an intra-articular mobile body, medial transposition of the patellar tendon with insertion of metal plaque and transposition of the tendon insertion of the vast medial. The ankle condition appeared even more severe, with full ankylosis in plantar flexion of 32 degrees. Both the ankle and the foot appeared to be twice the size of the contralateral limb for bone hyperplasia and connective tissue (Figure 3, Figure 4).

Figure 3. Malformations of the left lower limbs, (hip, knee and ankle), evident at the joint and periarticular level, where diffused exostoses are present.

Figure 4. Complete ankylosis of the plantar flexion of 32 degrees.

Movement of the patient. The patient has a gait abnormality (limp, asymmetrical, slower than normal), which currently does not require aids on level ground. Uphill movement causes bending of the torso with increased effort, therefore where the risk of falling increases (e.g. while descending the stairs) support with a stick is required.

The patient, due to the high risk of falling while using the stairs, has to be highly concentrated and a handrail is required. The deficit is increased by the sharp decrease in proprioceptive and exteroceptive sensitivity of the left foot plantar, which is housed in custom-made orthopedic footwear.

The impairment of walking leads to functional overload of the lower right limb with episodes of low back pain and homolateral coxalgia.

Diagnostic assessment

Our patient reported that based on the clinical characteristics, a diagnosis of proteus syndrome was issued at 18 months.

However, a recent genetic study performed in the patient at the age of 54 years highlighted the absence of the characteristic mutation present in proteus syndrome, suggesting a different diagnosis. The detection of the PIK3CA gene mutation (c.3140A> G), together with the clinical aspects of the patient, suggests a diagnosis of fibro-adipose hyperplasia syndrome (FHS), characterized by a congenital, progressive and localized overgrowth of fibrous and adipose tissue and bone. The FHS is part of the broader category of syndromes termed PIK3CA-related overgrowth spectrum (PROS), which includes LOVES, FHS, macrodactyly and megalocephaly syndrome. To date, the only treatment expected to slow down uncontrolled tissue growth is surgical resection. The aim of genetic research is to use ‘target therapies’, such as molecular inhibitors of the PI3K/AKT /mTOR pathway, currently used in oncology, which may slow down if not reverse the characteristic hyper-growth of these syndromes. Objective assessment of neuromuscular function can help the occupational medicine specialist to better evaluate global impairment and the presence of symptoms⁵.

Workplace intervention

We performed no therapeutic intervention since no health issue was present at the clinical evaluation. However, since the patient’s job had recently changed from administrative tasks to an activity characterized by more frequent contact with the public (more standing up and moving around for the worker), we ergonomically evaluated and adjusted the patient’s workplace.

The patient’s work environment consists of an office on the second floor where the patient carries out activities on a PC connected to the administration of the library where he works. His work chair is comfortable, allows height adjustment and an inclination of the backrest; the desk is spacious, ergonomically organized and allows comfortable housing of the legs of the subject. To allow the comfortable support of the foot, a stool was provided to the patient.

Movements at the workplace are very limited and of short duration; however, given the limitations of the patient’s movement, the use of the stairs must be limited and the use of a dedicated elevator is required. Therefore, to allow travel to and from the workplace, the patient was reserved a flat parking space, and an elevator located at the parking level to his workstation was provided, as well as to the entire library area and related offices.

The main occupational concern that could create critical issues with patients with this type of syndrome with restricted movement would be in the event of an emergency exodus, e.g. fire. Therefore, various measures and simulations were put in place to assess and reduce the risk for this patient in an event such as this.

For our patient, the maximum distance between a safe place to go to in event of an evacuation (as determined by the fire department, which was on a level) and the patient’s workstation or other places of work the patient occasionally frequented, such as reading room and book store, was <30 meters. A simulation was carried out at the patient’s workplace by the patient to assess the time taken for arrival at the safe place from the usual workstation (30 seconds) and from a more distant location (45 seconds), which seem to be acceptable times for the worker to keep in safe.

The presence of an automatic fire detection and extinguishing system may constitute a risk element for our patient as it maked the floors more slippery, increasing the risk of falls. Therefore, a training plan aimed at emergency evacuation and a specific exercise was planned for the entire staff. In addition, two work colleagues were trained specifically for the assistance of the patient, and a tested evacuation and transport chair (model PRO-SKID by SPENCER) was purchased to descend the external fire escape stairs.

Follow-up and outcomes

We assessed the outcomes of the change in workstation at 6 months. The patient reported increased work comfort and a regular use of the elevator located at the parking level to reach his workstation. He reported no falls during the last 6 months and no accidents have occurred.