Answers
1) Examination of the lower limb
On inspection, the lower limb is slightly externally rotated with the right hip is slightly abducted and the right knee is in flex position. There are presence of multiple nodular lesion (or may confidently said that it is neurofibromata) on both leg which is rounded, well defined margin and no ulcer around the lesion.
The right thigh is very huge as compared to the right thigh. There is presence of the dilated vein on the swelling. I can see that there is a dressing at the medial aspect of the thigh.(**I would like to remove the dressing to look underneath it.) There are no skin discoloration, scar or ulcer seen.
Next i would like to examine the swelling
a) start with palpation to know whether there is temperature changes or tenderness (do not go straight to the swelling but rather start it from the distal part and ascend to the proximal part.)
b) palpate the swelling for it borders, consistency, margin and it's location and attachment
- pinch the skin to look for attachment to skin
- Ask patient to flex the knee and adduct the thigh against force elicit by your hand. Your another hand palpating the mass to determine the origin of the swelling. It will increase in size if intramuscular or fix to the fascia and reduce in size if located below the muscle.
-Try to move the swelling up and down and side to side. mass originate from muscle can move sideway but not up and down.
c) Examine range of motion for this patient (joint above and below. In this case knee and hip)
d)I would like to complete the examination by checking the neurovascular system of this patient lower limb as well as inguinal lymph node.
e) Auscultate the swelling for bruit
2) Other system to examine
- To look for other sign of neurofibromatosis. remeber the mnemonic CAFE SPOT by Chew Nee Kong
-Cafe au lait spot
-Axillary freckling
-Fibromata
-Eye (Lisch nodule or iris hamartoma)
-Skeletal (bowing of bone, dysplasia, scoliosis)
-Pedigree- from history not Physical examination
-Optic tumor
To look for sign of metastesize
-Examine the lung for crepitition, pleural effusion
-Abdomen for hepatomegally
-Spine tenderness for bone metastesize
-Mental status and cranial nerve.
3) Differential diagnosis
- Starting with the most likely diagnosis which is Neurofibrosarcoma
other differential diagnosis
- Bone tumor (Benign vs malignant)
- Other soft tissue tumor (liposarcoma, lipoma, fibrosarcoma, rhabdomyosarcoma, giant cell tumor, Leiomyosarcoma)
- Infection (Filariasis)
- Trauma (bone fracture, malunion of the femoral fracture, infected hematoma)
- vascular (deep vein thrombosis, hemangioma)
- Lymphatic system ( chronic lymphedema, lymphangiosarcoma)
4) Management to this patient
a) Blood investigation
- FBC for total white count and Hb level
- LFT for ALP level and protein level
- Baseline RFT as this patient may require Chemotherapy
- D Dimer for Deep vein thrombosis
b) Imaging investigation
- Plain radiograph of the hip and femur (AP and lateral view) as this will give clue on the origin of the mass
- Ultrasound of the right leg to look for the nature of the swelling and proceed with Duplex ultrasound to access patency of the deep venous system
- MRI of the right limb to look at the extension of the swelling
c) Biopsy of the swelling
d) Staging and metastesize
- CXR for screening of the lung metastesize
- CT Brain, Thorax and abdomen
- Plain radiography of the spine. If indicated, do the bone scan.
e) Depending on the assesment, this patient may be treated with resection (local vs radical), radiotherapy, chemotherapy.