HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Familial chilblain and late contractural arachnodactyly: a novel association?

Abstract
We report an Italian family suffering from chilblain. Seven members over three generations affected, two of them presenting association with late contractural arachnodactyly. Inflammatory cutaneous lesions following exposure to cold or drop in temperature are called chilblain. Arachnodactyly is an hallmark of hereditary connective tissue disorders such as Marfan's syndrome and Beals' syndrome. The latter, showing joint congenital contractures, is called indeed congenital contractural arachnodactyly. We speculate that an underlying alteration in connective tissue could lead to the association between chilblain lesions and contractural arachnodactyly.
AuthorsMatteo Piga, Alessandra Vacca, Alberto Cauli, Giovanni Porru, Alessandro Mathieu
JournalJoint bone spine (Joint Bone Spine) Vol. 76 Issue 2 Pg. 205-8 (Mar 2009) ISSN: 1778-7254 [Electronic] France
PMID19124263 (Publication Type: Case Reports, Journal Article)
Topics
  • Adolescent
  • Arachnodactyly (genetics, pathology)
  • Chilblains (congenital, genetics, pathology)
  • Contracture (congenital, genetics, pathology)
  • Family Health
  • Female
  • Humans
  • Male
  • Marfan Syndrome (genetics, pathology)
  • Middle Aged
  • Mothers
  • Pedigree

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: