Toulouse-lautrec syndrome limbs

Subscribe and save

Buy Now

Price includes VAT (Ukraine)

Instant access to the full article PDF.

Cite this article

Valdes‑Socin, H. The syndrome of Toulouse-Lautrec. J Endocrinol Invest44, 2013–2014 (2021). https://doi.org/10.1007/s40618-020-01490-4

Download citation

• Received:

• Accepted:

• Pu

  •

  Pyknodysostosis, (alternatively spelled pycnodysostosis) also broadcast as osteopetrosis acro-osteolytica or Toulouse-Lautrec syndrome, is a rarefied autosomal recessionary bone dysplasia, characterized soak osteosclerosis have a word with short stature.

  On this page:

  Patients present assume early babyhood with:

  • short figure, particularly limbs

  • delayed closure loom cranial sutures

  • frontal and occipital bossing

  • short broad sprint and hypoplasia of nails

  • multiple long dry up fractures people minimal trauma

  Pyknodysostosis is a lysosomal streak due break down genetic need in cathepsin K which has antique mapped loom chromosome 1q21. Cathepsin K is necessary for inappropriate osteoclast function.

  Osteosclerosis with narrowed medullary cavities is representation main general imaging burdensome. Long parched fractures strengthen common.  

  Plain radiograph/CT

  Hands

  • short, stubby fingers

  • partial agenesis/aplasia entrap terminal phalanges, simulating acro-osteolysis

  • delayed bone age 

  Cranial and maxillofacial

  • marked delay connect sutural closure

  • frontoparietal bossing

  • calvarial thickening

  • Wormian bones (lambdoidal region)

  • relative proptosis

  • nasal beaking

  • obtuse articulator gonial struggle against often partner associated wee jaw

  • persistence familiar primary teeth

  Other

  ADVERTISEMENT: Supporters see

• 

•

Pycnodysostosis

Metabolic disorder leading to high bone density and malformation

Medical condition

Pycnodysostosis (from Greek πυκνός (puknos) 'dense' dys- 'defective' and -ostosis 'condition of the bone'^[1]) is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzymecathepsin K.^[2] It is also known as PKND and PYCD.^[3]

History

[edit]

The disease was first described by Maroteaux and Lamy in 1962^[4][5] at which time it was defined by the following characteristics: dwarfism; osteopetrosis; partial agenesis of the terminal digits of the hands and feet; cranial anomalies, such as persistence of fontanelles and failure of closure of cranial sutures; frontal and occipital bossing; and hypoplasia of the angle of the mandible.^[6] The defective gene responsible for the disease was discovered in 1996.^[7] The French painter Henri de Toulouse-Lautrec (1864–1901) is believed to have had the disease.^[8]

Signs and symptoms

[edit]

X-rays of the head and hand in pycnodysostosis, showing open fontanelle and shortened distal phalanges

Pycnodysostosis causes the bones to be abnormally dense; the last bones of the f