HUM-MOLGEN DIAGnostics/Clinical Research


2 March 1998
DIAGNOSIS OF FAMILIAL RECTAL PAIN 

We have recently started doing linkage study on familial rectal pain in our department.

Hayden & Grossman (1959) first described a syndrome which included episodic severe pain of the submandibular, ocular and rectal areas with flushing of the surrounding skin. Autosomal dominant inheritance was apparent, and a number of families have subsequently been reported. The clinical features suggest that the cellular phenotype involves both autonomic and nociceptor neurones but the molecular basis of the disorder is entirely unknown. Intestinal 'neuronal dysplasia' has been reported on rectal biopsy in one family.

If you have any patients in your care who might be willing to participate in our study please contact us.

Thank you


Caroline Fertleman
Department of Paediatrics
UCL Medical School
The Rayne Institute
5 University Street
London
WC1E 6JJ
Tel 0171 209 6663
Fax 0171 209 6103
email: c.fertleman@UCL.AC.UK