LETTER TO JMG

Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14

F Brancati¹, E M Valente², G Tadini³, V Caputo¹, A Di Benedetto, C Gelmetti⁴, B Dallapiccola¹

¹ University of Rome "La Sapienza" and IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel, Rome, Italy
² IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel, Rome
³ Malattie Cutanee Ereditarie, Ist di Sc Dermatologiche, Osp Maggiore Policlinico, University of Milan, Italy
⁴ Dermatologia Pediatrica, Ist di Sc Dermatologiche, Osp Maggiore Policlinico, University of Milan

Correspondence to:
Correspondence to:
Dr Enza Maria Valente
Neurogenetics, CSS Mendel Institute, Viale Regina Margherita 261, I-00168 Rome, Italy; e.valente@css-mendel.it

Keywords: benign telangiectasia; capillary malformation; Rendu-Osler-Weber; linkage; CMC1

Abbreviations: CM, capillary malformation; HBT, hereditary benign telangiectasia; HHT, hereditary haemorrhagic telangiectasia

The first 150 words of the full text of this article appear below.

Telangiectases are characterised by an abnormal permanent dilatation of end vessels—mainly venules but occasionally also capillaries and arterioles—in the subpapillary plexus in the upper part of the dermis.¹ Hereditary benign telangiectasia (HBT; OMIM 187260) is a rare genetic skin disorder classified among the primary or idiopathic telangiectases.¹ Affected individuals present with widespread cutaneous plaque-like, punctate, radiating or arborising telangiectases, which usually appear in early childhood with a random distribution. The young lesions are small and red and tend to increase in size with age, becoming softer and salmon-pink, almost like normal skin.^2,3 Lesions are invariably asymptomatic but can be responsible for mild cosmetic disability. There is no bleeding diathesis or systemic vascular lesions. Thus HBT is considered the benign form of hereditary haemorrhagic telangiectasia (HHT or Rendu-Osler-Weber disease; OMIM 187300 and 600736).⁴ Several familial cases showing autosomal dominant inheritance have been described.^2–3,5–10 However, owing to the small size of these . . . [Full text of this article]

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This article has been cited by other articles:

• Cole, S G, Begbie, M E, Wallace, G M F, Shovlin, C L (2005). A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5. J. Med. Genet. 42: 577-582 [Abstract] [Full Text]