Hereditary benign telangiectasia

Author: Eenass Natafji, Dermatology Registrar, Royal Infirmary of Edinburgh, Scotland; Chief Editor: Dr Amanda Oakley, Dermatologist, Hamilton, New Zealand, September 2015.

Synonyms:

Benign hereditary telangiectasia, MIM 187260

Categories:

Vascular disorder, Genetic disorder

Subcategories:

Genetics of hereditary benign telangiectasia, Clinical features of hereditary benign telangiectasia, Histology of hereditary benign telangiectasia, Differential diagnosis of hereditary benign telangiectasia, Treatment of hereditary benign telangiectasia

ICD-10:

L98.8, Q82.9

ICD-11:

LC50.Y

SNOMED CT:

238764001

What is telangiectasia?

The term telangiectasia refers to a skin condition composed of fine red blood vessels: these are called telangiectases.

Cutaneous telangiectases are caused by permanent dilatation of small blood vessels resulting in small, red linear markings in the skin and mucous membranes. They can be primary or secondary.

Primary telangiectases are caused by idiopathic capillary dilatation (unknown cause).
Secondary telangiectases occur as a feature of a cutaneous or systemic disease process.

What is benign hereditary telangiectasia?

Benign hereditary telangiectasia is a primary telangiectatic disorder. It has varying clinical patterns.

What causes benign hereditary telangiectasia and who is at risk?

The precise cause of benign hereditary telangiectasia is unknown.

It is inherited in an autosomal dominant pattern. This means it is passed on from one parent to roughly half of their children, therefore multiple family members may be affected.
Telangiectases tend to appear in the first years of life, often between the ages of 2 and 12 years. They are rarely present at birth.
Telangiectases are often more noticed by women, but the disorder is not thought to be more common in women.
The telangiectases may also become more prominent during pregnancy.
They are often distributed on light-exposed sites, implying sunlight may play a role.

What are the clinical features of benign hereditary telangiectasia?

Individuals with benign hereditary telangiectasia tend to present with numerous telangiectases.

They are often widely distributed over the face, neck, upper trunk, dorsal, hands and, less frequently, knees.
The telangiectases may be macular, plaque-like, arborising, reticulated, punctate, mottled, spiderlike and linear.
Punctate telangiectases may be surrounded by pale halos (steal phenomenon).
Some lesions may be indistinguishable from spider telangiectasis.
Early telangiectases can be small and erythematous. They often increase in size and may become paler with age.
The mucosal membranes are not affected with the exception of the vermilion border of the lips.
There is no systemic involvement or bleeding, in contrast to hereditary haemorrhagic telangiectasia.
The telangiectases are invariably asymptomatic and cause only mild cosmetic concern.

Benign hereditary telangiectasia

How is benign hereditary telangiectasia diagnosed?

Benign hereditary telangiectasia is a clinical diagnosis. Histological examination of lesional skin shows dilatation of the sub-papillary venous plexus with associated upper dermal atrophy.

What are the differential diagnoses for telangiectasias?

The most important condition to rule out is hereditary haemorrhagic telangiectasia (Osler-Rendu-Weber syndrome). The differential diagnoses of primary telangiectasias in children also include:

What is the treatment and outcome of benign hereditary telangiectasia?

Due to the lack of systemic involvement, benign hereditary telangiectasia has an excellent prognosis and medical intervention is not usually required.

When treatment is requested for cosmetic reasons, the following treatments may be considered.

Related information

References

Wells RS, Dowling GB. Hereditary benign telangiectasia. Br J Dermatol. 1971; 84(1): 93–4.
Puppin D, Rybojad M, Morel P. Hereditary benign telangiectasia: two case reports. J Dermatol. 1992; 19(6): 384–6.
Nakajima I, Okuyama R, Terui T, Tagami H, Aiba S. The first report of non-hereditary benign telangiectasia. J Eur Acad Dermatol Venereol. 2006; 20(10): 1329–31.
Purcell E, Condon C. Intense pulsed light therapy in the management of hereditary benign telangiectasia. Br J Plast Surg. 2004; 57(5): 453–5.
Arévalo NY, Martínez del Sel J, Donatti L, Dahbar M, Cabrera H, Allevato M. Hereditary benign telangiectasia: punctate telangiectasia surrounded by anemic halo. JAMA dermatology. 2013; 149(5): 633–4.
Gold MH, Eramo L, Prendiville JS. Hereditary benign telangiectasia. Pediatr Dermatol. 1989; 6(3): 194–7.
Molho-Pessach V, Agha Z, Libster D, Lerer I, Burger A, Jaber S, et al. Evidence for clinical and genetic heterogeneity in hereditary benign telangiectasia. J Am Acad Dermatol. 2007; 57(5): 814–8.
Textbook of Dermatology. Ed Rook A, Wilkinson DS, Ebling FJB, Champion RH, Burton JL. Seventh edition. Blackwell Scientific Publications.