LYMPHEDEMA FOLLOWING BREAST CANCER TREATMENT: SURGICAL APPROACH

Breast cancer-related upper extremity lymphedema can be a complication with a reported incidence of about 1 in 5 (but almost 1 in 2 when complete axillary lymph node dissection was done).

Lymphedema may rise immediately after surgery but most often occurs after a latent period. The causes are still not full understood, but obesity and radiotherapy are risk factors. Increased volume and weight of the affected limb and  are the main signs. Although physically not much disabling, the condition may be an emetional and psychological burden, as the patient may develop sensations of funtional handicap as well as aesthetical concerns.

CURRENT TREATMENTS FOR OCULO-PHARYNGEAL MUSCOLAR DYSTROPHY

The gene was identified, but many questions about the pathogenic mechanisms leading to the development of the oculo-pharyngeal muscular dystrophy remain so far unanswered, as well as the only treatments available are still surgical. In fact, not few in vitro and animal experiments have been made in the ambition to isolate a useful drug, but concrete results haven’t been reached, despite some encouraging evidences.

Some of the tested molecules are: trehalose, intracellular antibodies, some anti-inflammatory drugs and doxycycline. The results of an experimental autotransplantation of cells extracted from patients “healthy” muscles fibers are still awaited.

Therefore we can say that medical treatment for oculo-pharyngeal dystrophy currently doesn’t exist. However, guidelines and suggestions regarding lifestyle have been outlined.

In particular, it seems worth to recommend a diet rich in protein, especially when severe dysphagia leads the patient to avoid certain foods such as meat. Patients should be further reassured about the risk of choking, which is actually very low, while they should be advised about the importance of quickly contact their doctor if they develop productive cough and fever, given the high risk of dangerous (mortal) ab ingestis pneumonia (i.e. penumonia due to the aspiration of food).

Work out to maintain a good cardiovascular shape is recommended too, even if patients should not be encouraged to engage in extreme activities.

Many patients in advanced stages of disease may experience the need to walk with the aid of a cane, but only a few will actually require a wheelchair, mostly just to cover long distances.

It is also essential to prevent falls that could lead fractures.

Moderately to severely affected patients may be referred to surgery to correct the ptosis and to treat dysphagia (remember that the disease is highly variable and not all patients are equally affected).

Two surgical procedures can be performed to correct the ptosis and both give good results: 1) the resection of the levator palpebrae aponeurosis and 2) the frontal suspension of the eyelid. The resection of the levator palpebrae aponeurosis is relatively easy to perform, but it usually needs to be repeated once or twice.

The eyelid suspension is performed by the use of a synthetic thread (or derived from the muscle fascia) that is inserted as a sling into the tarsal plate of the upper eyelid and therefore attached at its ends to the frontalis muscle (which is rather preserved in oculo-pharyngeal dystrophy). The main advantage of this type of intervention lies in the fact that it is permanent and does not require to be repeated, though, when the wire is made from a fascia, it needs to be performed under general anesthesia.

Surgery for dysphagia should be reserved to severe cases experiencing marked reduction in body weight and episodes of choking or pneumonia. In most cases, the symptoms are relieved by cricopharyngeal myotomia, although dysphagia unfortunately tends to recur in the years. Interventions for the upper oesophagus dilatation by the use of promptly dissolving solids (bougies, i.e. candles) or by the injection of botulinum toxin are still in an experimental phase.

Oculo-pharingeal dystrophy is transmitted in accordance with autosomal dominant inheritance models (or rarely autosomal recessive). The mutations have been identified on the PABPN1 gene.

References

Abu-Baker A, Rouleau GA.Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies. Biochim Biophys Acta. 2007 Feb;1772(2):173-85. PMID: 17110089

Brais B. Oculopharyngeal muscular distrophy: a polyalanine myopathy. Curr Neurol Neurosci Rep. 2009; 9(1):76-82. PMID: 19080757

Urtizberea JA. Oculopharyngeal muscular dystrophy. Orphanet Encyclopedia, february 2004. URL: www.orpha.net, retrieved on 15th Sep 2010.

PRUNE-BELLY SYNDROME: TREATMENT UPDATES

Prune-belly syndrome is a rare disease whose incidence is estimated in 1 case every 35.000/50.000 live births. The syndrome affects almost exclusively males and is characterized by congenital absence (aplasia) of the muscles of the abdominal wall, cryptorchidism (undescended testes in the abdominal cavity) and abnormalities of the urinary tract.

Several attempts have been made to surgically reconstruct the abdominal wall (abdominoplasty).

Randolph and colleagues (1977) had tried a U-shaped transverse incision with the following excision of the exciding lower abdominal flap and advancement of the band and the muscle. This technique, however, besides being difficult to perform, has proved ineffective, requiring numerous revisions over time.

Ehrlich and colleagues (1986), instead, had described a technique characterized by overlapping fasciomuscular flaps in a "double-breasted" way. This technique was subsequently amended by Monfort (Monfort intervention) with results considered to be aesthetically better: the action involves bilateral vertical incision of the fascia with removal of the wall in excess and subsequent progress and reunion of longitudinal strips (the navel is preserved). Another operation is the one described by Ger and Coryllos (2000), who proposed the reconstruction of the muscles through the transposition of the rectus femoris.

Another, newer technique has however been described by Firlit. It consists in recasting the abdominal wall in an extraperitoneal way, namely not to affect the band and/or enter the peritoneal cavity, thereby reducing the possibility of complications and adhesions. According to the authors, this technique seems to give noticeable and lasting results from the aesthetic point of view. Since 2005, Firlit technique has also been performed laparoscopically (i.e. opening the abdomen) with even fewer complications and further improvement of aesthetic results. Dr. Israel Franco is one of authors describing this technique.

References

Levine E, Taub PJ, Franco I. Laparoscopic-assisted abdominal wall reconstruction in prune-belly syndrome. Ann Plast Surg. 2007 Feb;58(2):162-5. PMID: 17245142.

Franco I. Laparoscopic assisted modification of the firlit abdominal wall plication. J Urol. 2005 Jul;174(1):280-3. PMID: 15947667.

Furness PD 3rd, Cheng EY, Franco I, Firlit CF. The prune-belly syndrome: a new and simplified technique of abdominal wall reconstruction. J Urol. 1998 Sep;160(3 Pt 2):1195-7; discussion 1216. PMID: 9719308.

Woodard JR. Prune-belly syndrome: a personal learning experience. BJU Int. 2003 Oct;92 Suppl 1:10-1. PMID: 12969002

Bukowski TP, Smith CA. Monfort abdominoplasty with neoumbilical modification. J Urol. 2000 Nov;164(5):1711-3. PMID: 11025757

HINTS ON THE TREATMENT OF MACRODYSTROPHIA LIPOMATOSA

Macrodystrophia lipomatosa is a rare disease that may lead to lower limb lenght discrepancy.

Lower limb lenght discrepancies are usually addressed through a surgical procedure called “epiphysiodesis”. Epiphysiodesis consists in fixing bone ends to the central part of the bone by the use of osteosynthesis. The aim is to stop the activity of the growth plate lying in the middle.

Various types of metallic devices can be used for the osteosynthesis, which can be performed “open air” (opening the leg) or by means of endoscopy. Two major interventions on macrodystrophia lipomatosa patients are described in the literature: staple epiphysiodesis according to Blount technique and PETS (percutaneous epiphysiodesis using transphyseal screws).

Two big reviews analysing large pools of patients treated by either the first or the second intervention have been published (respectively: PMID 19797579 and PMID 17717460).

According to authors, proximal tibial and combined distal femoral and proximal tibial staple epiphysiodeses, even if done well technically, lead to clinically relevant shifts in the mechanical axis of the lower extremity more than half of the time. Distal femoral staple epiphysiodesis may still be a safe option for the treatment of limb-length discrepancy. In summary: caution is adviced when utilizing proximal tibial staple epiphysiodesis to treat limb-length inequality. Moreover, it’s of note that, although referring to old cases published in the seventies, adverse effects of the staple epiphysiodesis intervention such as reactions to metal, hypercorrection (excessive correction of the defect), premature growth plate closure, peroneal nerve paresis, knee joint laxity and infections have been reported.

Conversely, PETS reported complications were minor and were related to incorrect placement of screws or minor hardware irritation. According to author, percutaneous screw epiphysiodesis is a reliable, minimally invasive method with reliable results in both length and angular correction, with minimal morbidity, and with an acceptable complication rate.

In our opinion, due to the rarity of the condition and the possible complexity of the intervention, it might be useful to ask more than one surgeon for counselling.

References

Gorman TM, Vanderwerff R, Pond M, MacWilliams B, Santora SD.Mechanical axis following staple epiphysiodesis for limb-length inequality. J Bone Joint Surg Am. 2009 Oct;91(10):2430-9. PMID 19797579

Khoury JG, Tavares JO, McConnell S, Zeiders G, Sanders JO. Results of screw epiphysiodesis for the treatment of limb length discrepancy and angular deformity. J Pediatr Orthop. 2007 Sep;27(6):623-8. PMID 17717460

HINTS ON THE TREATMENT OF DYSPLASIA EPIPHYSEALIS HEMIMELICA

Dysplasia epiphysealis hemimelica (DEH, also known as Trevor disease) is a rare developmental disorder characterized by a benign overgrowth of the epyphisealis joint cartilage. The distal femur, proximal tibia, talus, navicular and medial cuneiform bones are most commonly involved. One single limb is usually affected, showing multiple sites of overgrowth (the bilateral involvement is exceptional). The disease mostly appears in the first decade of life (but onset has been described even in the elderly). DEH is thought to have an incidence of 1 in one million and it isn't hereditary, being its cause still unknown. Symptoms mainly consist in firm swelling or lump, usually (but not always) without pain. Malignant transformation has not been reported. For asymptomatic patients an invasive treatment may not be indicated, whereas simple periodic visits are suggested. Nevertheless, a major issue may arise from the lenght discrepancy of the lower limbs, which may not be easily addresses by the surgeon. In the extra-articular forms presenting a clear cleavage plan the lesion total exerisis is usually enough to relieve the pain, while in intra-articular forms an osteotomy may be needed to correct the deformity. Some cases of ankle localization at the talus have been reported to need an arthrodesis (a joint fixation).
Click here for DEH X-ray images at http://emedicine.medscape.com.

References

Acquaviva A, Municchi G, Marconcini S, Mazzarella F, Occhini R, Toti P, Mazzei MA, Volterrani L. Dysplasia epiphysealis hemimelica in a young girl: role of MRI in the diagnosis and follow-up. Joint Bone Spine. 2005 Mar;72(2):183-6.

Connor JM, Horan FT, Beighton P. Dysplasia epiphysialis hemimelica. A clinical and genetic study. J Bone Joint Surg Br. 1983 May;65(3):350-4.

Freihaut RB, O'Keane JC, Stephens MM. Dysplasia epiphysealis hemimelica with associated osteochondral lesion of the talus: a case report and review of the literature. Foot Ankle Int. 2007 Jun;28(6):727-30.

Glick R, Khaldi L, Ptaszynski K, Steiner GC. Dysplasia epiphysealis hemimelica (Trevor disease): a rare developmental disorder of bone mimicking osteochondroma of long bones. Hum Pathol. 2007 Aug;38(8):1265-72. Epub 2007 May 8.

Golli M, Jellali MA, Hmida B, Jazaerli N, Younes M, Salem R, Hafsa C, Zrig A, Bergaoui N. [Dysplasia epiphysealis hemimelica: a rare cause of ankle pain in children].Arch Pediatr. 2009 Oct;16(10):1374-7. Epub 2009 Aug 15.

Karam AR, Birjawi GA, Saghieh S, Tawil A, Khoury NJ. Generalized dysplasia epiphysealis hemimelica with contralateral sacro-iliac joint involvement. Skeletal Radiol. 2008 Dec;37(12):1147-52. Epub 2008 Sep 23.

Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. MIM Number: 127800 (last edited 25 Jun 1994)