Alternative titles; symbols
SNOMEDCT: 238763007, 238764001; MONDO: 0008534;
Cytogenetic location: 5q14 Genomic coordinates (GRCh38) : 5:77,600,001-93,000,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 5q14 | Telangiectasia, hereditary benign | 187260 | Autosomal dominant | 2 |
Ryan and Wells (1971) described 7 kindreds in each of which several persons had widespread telangiectases. The areas affected were predominantly the face, upper limbs, and upper trunk. The telangiectases were venular and associated with upper dermal atrophy. Wells and Dowling (1981) reported 3 affected families with an autosomal dominant pattern. Person and Longcope (1985) described a 21-year-old man with hereditary benign telangiectasia whose mother and 1 of his 2 sisters were similarly affected. No mucosal lesions or history of hemorrhagic problems were elicited. The authors noted that the disorder, also known as generalized essential telangiectasia, occurs more frequently in women. Person and Longcope (1985) could not demonstrate estrogen or progesterone receptors in the skin lesions of their proband. They were prompted to look for receptors because of the finding of a considerable increase in such receptors in the lesion of unilateral nevoid telangiectasia (Uhlin and McCarty, 1983), a segmental disorder seen in women at puberty, during pregnancy, or while taking contraceptives, but also observed in men with hepatic cirrhosis.
Brancati et al. (2003) reported a large family from northern Italy in which 13 members over 3 generations had autosomal dominant hereditary benign telangiectasia. Age at onset could not always be determined, but some parents noted macular telangiectases in their sons during the first months of life. There was a large variability in size (1 x 1 to 6 x 4 cm) and number (1 to greater than 10) of telangiectases observed among affected family members, but lesions invariably became paler with increasing age. Histologic examination showed normal epidermis and dilatation of the smallest blood vessels of the upper part of the dermis.
In a large family with HBT from northern Italy, Brancati et al. (2003) found linkage to a 7-Mb region on chromosome 5q14 (maximum lod score of 5.27 at marker D5S641). The authors noted that the linked interval in this family coincided with the CMC1 locus (163000), suggesting that HBT and capillary malformations may be variable clinical presentations of the same disorder.
Brancati, F., Valente, E. M., Tadini, G., Caputo, V., Di Benedetto, A., Gelmetti, C., Dallapiccola, B. Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14. J. Med. Genet. 40: 849-853, 2003. [PubMed: 14627680] [Full Text: https://doi.org/10.1136/jmg.40.11.849]
Person, J. R., Longcope, C. Estrogen and progesterone receptors are not increased in generalized essential telangiectasia. (Letter) Arch. Derm. 121: 836-837, 1985. [PubMed: 4015128]
Ryan, T. J., Wells, R. S. Hereditary benign telangiectasia. Trans. St. John's Hosp. Derm. Soc. 57: 148-156, 1971.
Uhlin, S. R., McCarty, K. S. Unilateral nevoid telangiectasia syndrome: the role of estrogen and progesterone receptors. Arch. Derm. 119: 226-228, 1983. [PubMed: 6824361] [Full Text: https://doi.org/10.1001/archderm.119.3.226]
Wells, R. S., Dowling, G. B. Hereditary benign telangiectasia. Brit. J. Derm. 84: 93-94, 1981.