Skeletal System
Questions Received:
Responses:
Can you please give me some information on costoclordritis?
5th April 2000
We believe you may be referring to costochondritis - inflammation of the costal cartilages that link the ribs with the sternum. The trigger for the inflammatory change can be trauma (accidental or operative), infection, lymphoma, or Tietze’s syndrome (Heckenkamp, Helling, and Rehm, 1997; Cocco et al, 1999; Krohn-Grimberghe et al, 1999).
Tietze's syndrome usually presents as a tender, non-suppurative swelling in the upper costosternal region. It is benign in nature, self-limiting, and of unknown etiology (Aeschlimann and Kahn, 1990).
Costochondritis of the chest wall has become more prevalent as a result of the increasing use of intravenous drugs such as heroin, and may involve micro-organisms such as Pseudomonas aeruginosa and Candida albicans (Gimferrer et al, 1986; Meyer and White, 1998).
References
Aeschlimann, A., and Kahn, M.F. (1990) Tietze's syndrome: a critical review. Clinical and Experimental Rheumatology, 8(4), 407-412 (Jul-Aug).
Cocco, R., Galieni, P., Bellan, C., and Fioravanti, A. (1999) Lymphomas presenting as Tietze's syndrome: a report of 4 clinical cases. [Article in Italian] Ann Ital Med Int, 14(2):118-23 (Apr-Jun).
Gimferrer, J.M., Callejas, M.A., Sanchez-Lloret, J., Carranza, M., Catalan, M., Freixinet, J., and Letang, E. (1986) Candida albicans costochondritis in heroin addicts. Annals of Thoracic Surgery, 41(1), 89-90 (Jan).
Heckenkamp, J., Helling, H.J., and Rehm, K.E. (1997) Post-traumatic costochondritis caused by Candida albicans. Aetiology, diagnosis and treatment. Scandinavian Cardiovascular Journal, 31(3):165-7
Krohn-Grimberghe, B., Kurzeja, R., Wagner, J., and Kaiser, H.E. (1999) Pleomorphic T-cell lymphoma with chondropathia tuberosa; a case report and review. Anticancer Research, 19(3B), 2221-2228 (May-Jun).
Meyer, C.A., and White, C.S. (1998) Cartilaginous disorders of the chest. Radiographics, 18(5), 1109-1123 (Sep-Oct).
What does ‘inflammatory bones’ mean?
18th March 2000
One possible interpretation is osteomyelitis (osteo: bone, myelos: marrow, -itis: inflammation) which is a local or generalised infection of bone and bone marrow. It is usually caused by bacteria introduced by trauma or surgery, by direct extension from a nearby infection, or via the bloodstream (Anderson et al, 1994).
Gunta (1998) makes the following points about osteomyelitis:
Bone infections occur because of the direct or indirect invasion of the skeletal circulation by micro-organisms, most commonly the bacterium Staphylococcus aureus
Tuberculosis of the bone, which is characterised by bone destruction and abcess formation, is caused by spread of infection from the lungs or lymph nodes
Osteomyelitis can be an acute or chronic disease: acute osteomyelitis is seen most often as a result of entry of the bone by a foreign object, while chronic osteomyelitis is a long term process that can recur spontaneously at any time throughout a person's life
The incidence of all types of bone infection has been dramatically reduced since the advent of antibiotic therapy
Iatrogenic infections of the bone and marrow are introduced inadvertently during surgery or other treatments.
References
Anderson, K.E., Anderson, L.E., and Glanze, W.D. (editors) (1994) Mosby's medical, nursing, and allied health dictionary (5th edition). St. Louis: Mosby-Year Book, Inc. (p 1168).
Gunta, E.K. (1998) Alterations in skeletal function: trauma and infection. In: Pathophysiology: concepts of altered health states (5th edition), edited by L. Stead, C. Vaughn and T. Gibbons. Philadelphia: Lippincott-Raven (Chapter 45, p 1092).
Can you tell me anything about the tumor known as fibrocartilaginous mesenchymoma as I have been fighting against this tumor for the last 7 years?
28th January 2001
This is a rare condition, and less than 20 cases have been described in the medical literature to this time. The first published review was made by Dahlin and colleagues in 1984 when they described five cases of bone tumours that were distinctive in terms of their clinical behaviour and radiographic and morphologic features. The tumours were relatively non-malignant, and the authors gave them the name fibrocartilaginous mesenchymoma (Dahlin et al, 1984).
The tumours appear during childhood and young adulthood (age range 9 to 25 years, Bulychova et al, 1993). They most commonly develop in the shafts of long bones such as the fibula or humerus, but they have also been reported in the spine (Gibson et al, 1994) and ilium (Sumner et al, 2000). The radiographic, computed tomography, and magnetic resonance imaging appearances of these tumours have been described (Sumner et al, 2000).
When examined by microscopy, the tumours are seen to consist of islands of hyaline cartilage in a matrix of fibrous connective tissue. Some of the cartilage may be converted into bone by the process of endochondral ossification (Cozzutto and Cornaglia-Ferraris, 1991; Bulychova et al, 1993). Although the tumour cells tend to infiltrate adjacent bony tissue, there have been no reports of spreading of the tumour cells to other parts of the body (metastasis). Treatment is usually by surgical removal of the tumour.
References
Bulychova, I.V., Unni, K.K., Bertoni, F., and Beabout, J.W. (1993) Fibrocartilagenous mesenchymoma of bone. American Journal of Surgical Pathology, 17(8), 830-836 (Aug).
Cherradi, N., Jelthi, A., Alhamany, Z., Miri, A., and Forest, M. (1999) Fibrocartilaginous mesenchymoma of bone. A case report. [Article in French] Clinical and Experimental Pathology, 47(5), 249-255.
Cozzutto, C., and Cornaglia-Ferraris, P. (1991) Fibrocartilaginous mesenchymoma of bone. Pathology, Research and Practice, 187(2-3), 279-283 (Mar).
Dahlin, D.C., Bertoni, F., Beabout, J.W., and Campanacci, M. (1984) Fibrocartilaginous mesenchymoma with low-grade malignancy. Skeletal Radiology, 12(4), 263-269.
Gibson, J.N., Reid, R., and McMaster, M.J. (1994) Fibrocartilaginous mesenchymoma of the fifth lumbar vertebra treated by vertebrectomy. Spine, 19(17), 1992-1997 (Sep 1).
Sumner, T.E., Ward, W.G., Kilpatrick, S.E., and Opatowsky, M.J. (2000) Fibrocartilaginous mesenchymoma of bone: case report and review of the literature. Pediatric Radiology, 30(5), 315-317 (May).
My husband and children have a bone disorder that seems to be very rare. I have been told the name of it is Madelung, however I am not sure of this. It is characterized by short bones in the forearms and in the lower leg. The average height in the family is 5' 3" or so. There is one sister in the family who is only 4' 10". One of the bones in the wrist does not seem to connect to the hand completely and thus are very weak.
We cannot seem to find any info on this disorder. As far as I have seen, no one other than this family has ever had or even heard of it. I would appreciate any information you can provide.
13th July 2001
There are several names for this condition: Madelung's Disease (or Deformity), Multiple Symmetrical Lipomatosis (MSL), Benign Symmetric Lipomatosis (BSL), and Lanois-Bensaude Syndrome. It may help you to search the Internet for information under these different names. Because of its rarity, many doctors have not heard of the condition. The highest incidence has been reported in males, particularly those with an alcoholic background, but cases also occur in men with a non-alcoholic background and in women. The condition tends to manifest itself more noticeably during mid life, although in some cases the skeletal features become apparent during childhood.
Madelung’s disease is characterized by two main features: changes in skeletal development of the sorts you have described, and the symmetrical development of fatty masses around the face, back of the head, neck, upper arms, abdomen, back and upper leg in a very specific pattern. The Madelung deformity may be present at birth due to an abnormal fibrous band between the bones of the forearm (radius and ulna), or it may occur at a later stage following trauma to the distal radius. The disorder in development of the radius results in an increased bowing of the radius, a short forearm, dorsal dislocation of the ulnar head and a "V" shaped row of carpal bones in the wrist. The condition may be painful and may result in damage to the extensor tendons crossing the back of the wrist.
Other physical symptoms include extreme fatigue and muscle aches, increased or reduced sensitivity to touch or minor trauma, and strange sensations (for example the sensation of something crawling over the skin or hot liquid running down an extremity). There may be autonomic nervous system manifestations such as unusual flushing and sweating (particularly after eating), wide fluctuations in blood pressure and heart rate, adult onset asthma, glucose intolerance, gastrointestinal problems (particularly nocturnal diarrhoea), and foot problems such as ulcers on the plantar surface of the foot.
Linear growth of the skeleton is a multifactorial
process involving environmental, hormonal and genetic factors. In 1997 a gene
was identified that helps to regulate growth of the skeleton, particularly the
rate at which the growth plates of cartilage within the long bones are
transformed into bone (Blaschke and Rappold, 2000; Ogata, Matsuo, and Nishimura,
2001). The gene is called SHOX, and it may be involved in the development of
Madelung’s deformity. It appears that if there is insufficient expression of
SHOX, the person’s stature tends to be reduced and Madelung’s deformity arises
(Ogata, Matsuo, and Nishimura, 2001). By contrast, SHOX overexpression usually
leads to long limbs and tall stature resulting from continued growth into the
late teens in subjects with gonadal dysgenesis. It is currently thought that
SHOX functions as a repressor for growth plate fusion and skeletal maturation in
the distal limbs and thus counteracts the skeletal maturing effects of
oestrogens.
Given the range of clinical features associated with Madelung’s disease, and the
unfamiliarity of most doctors with the condition, there is a tendency to treat
each manifestation of the condition separately. This may lead to unsatisfactory
treatment results. Since the laboratory tests tend to fall within normal ranges,
the affected person may begin to feel demoralised in the absence of an
identifiable cause and appropriate treatment.
Operative techniques are being developed to correct the deformity as early as possible (Lacher, Sennwald, and Frey, 1995). The aim of early surgery is to reduce complications such as limitation of movement and rupture of wrist and finger extensor tendons at a later age. Carter and Ezaki (2000) have described a new surgical technique that is performed by way of an anterior incision at the wrist: the release of the aberrant anterior ligamentous structure is performed simultaneously with a dome shaped osteotomy of the radius. The fragments are aligned correctly, stabilised with temporary pin fixation, and the arm placed in a long cast until the bone has healed.
The fatty deposits can be removed surgically either by dissection or liposuction (Constantinoiu et al, 1996; Smith et al, 1998). The aesthetic and functional results can be excellent, although there is a tendency for the deposits to recur. Surgical intervention is complicated by the tendency of these lipomas to spread between structures around them - they do not have well-defined capsules in the way that lipomas generally do - and by being richly supplied with blood vessels.
With a better understanding of the factors which regulate skeletal growth, and the recent identification of a genetic mechanism linked with Madelung’s disease, it may become possible in the future to treat the condition more effectively. For example, hormonal intervention during childhood may serve to reduce development of the clinical features (Ogata, Matsuo, and Nishimura, 2001).
References
Blaschke, R.J., and Rappold, G.A. (2000) SHOX: growth, Leri-Weill and Turner syndromes. Trends in Endocrinology and Metabolism, 11(6), 227-230 (Aug).
Carter, P.R., and Ezaki, M. (2000) Madelung's deformity. Surgical correction through the anterior approach. Hand Clinics, 16(4), 713-721, x-xi (Nov).
Constantinoiu, S., Mocanu, A.R., Barla, R., and Pop, D. (1996) Madelung's cervicodorsal adipose hypertrophy (the Launois-Bensaude syndrome). [Article in Romanian] Chirurgia (Bucur), 45(6), 331-336 (Nov-Dec).
Lacher, G., Sennwald, G., and Frey, H.P. (1995) Use of the Ilisarow device for correction of extensive Madelung's deformity. [Article in German] Handchirurgie, Mikrochirurgie, Plastische Chirurgie, 27(4), 214-219 (Jul).
Ogata, T., Matsuo, N., and Nishimura, G. (2001) SHOX haploinsufficiency and overdosage: impact of gonadal function status. Journal of Medical Genetics, 38(1):1-6 (Jan).
Smith, P.D., Stadelmann, W.K., Wassermann, R.J., and Kearney, R.E. (1998) Benign symmetric lipomatosis (Madelung's disease). Annals of Plastic Surgery, 41(6), 671-673 (Dec).