Evidence for clinical and genetic heterogeneity in hereditary benign telangiectasia - 19/08/11
Correspondence to: Abraham Zlotogorski, MD, Department of Dermatology, Hadassah-Hebrew University Medical Center, PO Box 12000, Jerusalem 91200, Israel.Abstract |
Background |
Telangiectases are abnormal dilatations of end vessels in the subpapillary plexus of the papillary dermis. Hereditary benign telangiectasia (HBT) (OMIM 187260) is a genetic skin disorder, characterized by multiple cutaneous telangiectases appearing in the first years of life in various locations. Several familial cases of HBT have been described displaying autosomal dominant inheritance. In some of the described pedigrees, telangiectases are limited to sun-exposed areas, whereas in others lesions are randomly distributed over the body. The disorder has been previously mapped to a 7Mb interval on chromosome 5q14 (CMC1 locus) in an Italian pedigree with randomly distributed telangiectases.
Objectives |
A large pedigree of HBT with photodistributed lesions is described. We sought to determine whether photodistributed HBT is linked to the CMC1 locus.
Methods |
In all, 35 family members were examined. DNA was extracted from blood and saliva samples. Linkage analysis to CMC1 locus on chromosome 5q14 was screened by using 3 polymorphic markers.
Results |
In all, 23 family members were found to have variable numbers of cutaneous radiating macular telangiectases, measuring 1 to 3 cm and distributed over the face, back of the hands, and forearms. HBT in this family is inherited in an autosomal dominant pattern with incomplete penetrance. Linkage to the CMC1 locus was excluded.
Limitation |
Only one family, although very large, was studied in this project.
Conclusions |
Clinical and genetic heterogeneity is evident in HBT. Photodistributed HBT is not related pathogenically to capillary malformations or to randomly distributed hereditary telangiectases and should be recognized as a separate entity.
Le texte complet de cet article est disponible en PDF.Abbreviations used : OMIM, cM, LOD, HBT, PCR, GTP, GDP
Plan
| Supported by the Authority for Research and Development, Hebrew University of Jerusalem (Dr Zlotogorski). |
|
| Conflicts of interest: None declared. |
|
| Reprints not available from the authors. |
Vol 57 - N° 5
P. 814-818 - novembre 2007 Retour au numéro
Article précédent
- Randomized trial of pimecrolimus cream versus triamcinolone acetonide paste in the treatment of oral lichen planus
- Farzam Gorouhi, Amirreza Solhpour, Jalil Momen Beitollahi, Shahla Afshar, Parastoo Davari, Pantea Hashemi, Mansour Nassiri Kashani, Alireza Firooz
- Dietary glycemic index and glucose, insulin, insulin-like growth factor-I, insulin-like growth factor binding protein 3, and leptin levels in patients with acne
- Yesim Kaymak, Esra Adisen, Nilsel Ilter, Aysun Bideci, Demet Gurler, Bulent Celik
Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.
Déjà abonné à cette revue ?