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Case: Pycnodysostosis

Reported by Marthinus Roos, Elgin, Scotland

Please advise me on the management of this 56 year old male, suffering from pycnodysostosis. He is mainly wheelchair bound, but transfers with the aid of crutches.

Approximately 15 years ago he presented with a draining sinus at the MP joint of his big toe, which was treated with long-term antibiotics. This sinus started draining again about two months ago, but stopped after a few weeks on antibiotics.

Current Problem

Draining sinus on pulp of thumb. This was painful just over a year ago. The skin overlying the sharpened, palpable tip of the phalanx (see attached X-ray) was sore, especially when using his crutch with that hand. It subsided slowly whist only being observed. At that time I was worried about the tip of the phalanx (which was palpable proximal to the bulk of the pulp, as the terminal tuft has resorbed).

Two weeks ago he presented, with (yes, you guessed it)a sinus over the tip of this phalanx, where the skin seemed to have broken down, draining only a little (still awaiting culture results). The patient is very worried about surgery (I am thinking of a debridement with rounding off of the tip of the phalanx), as it will make him bed-bound for the duration of the recovery (which I suspect might be lengthy) as he will not be able to use his crutch

Follow Up

This patient was previously reported in the literature (Mills KL, Johnston AW. Pycnodysostosis. J Med Genet 1988 Aug;25(8):550-3).

Patient is of normal intelligence (he e-mailed me some of the images), transfers from wheelchair to bed, using crutches.

Thumb developed draining sinus over tip of terminal phalanx (sharp tip of phalanx eroded through skin due to increased pressure when taking weight on crutch). Healed with self-applied topical antibiotics!

Previous draining sinus over MP joint R big toe. It healed with only antibiotics. This has been quiescent for 10 years

Does anybody have experience with similar problems in Pycnodysostotic patients? If so, please let me have your thoughts.


From: Rajeev Dubey
Date: 29 May 2000 - 20:59 BST

Dear Colleague,
You can try a well-padded pop cast, rather than go for surgery. If you want some surgery, Syme's amputation is the best one.

Rajeev Dubrey

From: Christian Veillette
Date: 30 May 2000 - 00:43 BST

A quick look at OMIM (Online Mendelian Inheritance in Man) gives an explanation of PYCNODYSOSTOSIS Includes articles of relevance. May be of some help. OMIM is an excellent resource and worth a look for all those weird and wonderful genetic diseases.

Christian Veillette
University of Toronto

From: Myles Clough ( )
Date: 30 May 2000 - 07:12 BST

> Please advise me on the management of this 56 year old male, suffering
from Picnodysostosis. (M.Roos)

Is there anything about the genetics of this condition that indicates particular susceptibility to bone infections? Or difficulty in treating one? If this patient didn't have Pyknodysostosis what would we do? Do any of the physiotherapists on the list have any suggestions about the problem of mobilizing him while he is recovering from the surgery on his thumb? Would a gutter crutch be helpful? If you think that his mode of ambulation was putting so much stress on the hand and thumb that it promoted the current problem a gutter crutch might be a good long term idea.

Do you have positive cultures?

Myles Clough
Orthopaedic Surgeon, Kamloops, BC, Canada

From: Choon Siew Kit, David
Date: 30 May 2000 - 08:05 BST

Pyknodysostosis is probably quite similar to osteopetrosis. If so, I would treat as if he were just another patient and ignore the metabolic defect. As Miles suggests,there is possibly another cause for the infection such as
pressure from his difficulty with ambulation (not clear why he cannot walk - is it because of his sinus only?) or other predisposition such as occupation or other diseases such as diabetes. Or is it because he has infection with an exotic organism such as in melioidosis (Pseudomonas/Burkholderia pseudomallei). The possibililties are many.

David Choon
University Malaya
E-mail: ( )

From: Dr. Vinod Naneria

A little more about picnodysostosis. As there should be no medullary canal formation, the susceptibility to infection becomes high (poor medullary blood supply). In this way it is more like osteopetrosis, where osteomyelitis of mandible is very common following any tooth infection.

Dr.Vinod Naneria, Orthopaedic Surgeon
Choithram Hospital & Research Centre, Indore, India

From: Chris Vertullo
Date: 3 Jun 2000 - 08:40 BST

Henri Toulouse-Lautrec, the French artist, had Pyknodysostosis.

Chris Vertullo
E-mail: ( )

From: Myles Clough ( )
Date: 4 Jun 2000 - 22:14 BST

Some of the articles I found indicated there was considerable controversy over whether this was the case or not (? Toulouse-Lautrec having the condition).

Myles Clough
Orthopaedic Surgeon, Kamloops, BC, Canada

Editor's Comment
Looking through the abstracts of the literature available in Medline, it was noticeable how many papers there are about dental infections in pycnodysostosis. The genetic defect is nonsense or missense of the Cathepsin K gene. Is Cathepsin K involved in immune or inflammatory reactions? It is certainly involved in osteoclast activity. Vinod Naneria suggested that the high incidence of bone infection in this condition (and osteopetrosis) was due to loss of the medullary canal and loss of the medullary blood supply. Is this generally accepted?

Myles Clough
Orthopaedic Surgeon, Kamloops, BC, Canada


Lazner F, Gowen M, Pavasovic D, Kola I. Osteopetrosis and osteoporosis: two sides of the same coin. Hum Mol Genet. 1999;8(10 REVIEW ISSUE):1839-46.

Alibhai ZA, Matee MI, Chindia ML, Moshy J. Presentation and management of chronic osteomyelitis in an African patient with pycnodysostosis.
Oral Dis. 1999 Jan;5(1):87-9.

Iwu CO. Bilateral osteomyelitis of the mandible in pycnodysostosis. A case report. Int J Oral Maxillofac Surg. 1991 Apr;20(2):71-2.

O'Connell AC, Brennan MT, Francomano CA. Pycnodysostosis: orofacial manifestations in two pediatric patients. Pediatr Dent. 1998 May-Jun;20(3):204-7.

Darcan S, Akisu M, Taneli B, Kendir G. A case of pycnodysostosis with growth hormone deficiency. Clin Genet. 1996 Nov;50(5):422-5.

Soliman AT, Rajab A, AlSalmi I, Darwish A, Asfour M. Defective growth hormone secretion in children with pycnodysostosis and improved linear growth after growth hormone treatment. Arch Dis Child. 1996 Sep;75(3):242-4.

Beguiristain JL, Arriola FJ, Leyes M. Lumbar spine anomalies in a pycnodysostosis case. Eur Spine J. 1995;4(5):320-1. Review.

Edelson JG, Obad S, Geiger R, On A, Artul HJ. Pycnodysostosis. Orthopedic aspects with a description of 14 new cases. Clin Orthop. 1992 Jul;(280):263-76.

Greenspan A. Sclerosing bone dysplasias--a target-site approach. Skeletal Radiol. 1991;20(8):561-83. Review.

Floman Y, Gomori JM, Fast A. Isthmic spondylolisthesis in pycnodysostosis. J Spinal Disord. 1989 Dec;2(4):268-71.

Mills KL, Johnston AW. Pycnodysostosis. J Med Genet. 1988 Aug;25(8):550-3.

Kumar A. Pycnodysostosis. Case report. Int Orthop. 1988;12(3):261-3.

Lyritis G, Rapidis A, Dimitracopoulos B. Orthopaedic problems in patients with pycnodysostosis. Prog Clin Biol Res. 1982;104:199-204.

Beighton P, Hamersma H. The orthopaedic implications of the sclerosing bone dysplasias. S Afr Med J. 1980 Oct 11;58(15):600-4.

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