Unilateral nevoid telangiectasia: a rare disease?

Unilateral nevoid telangiectasia is a rare congenital or acquired disorder. The majority of the authors propose that it is probably related to elevated estrogen receptors, although other authors advocate different theories. We report the occurrence of lesions clinically compatible with this diagnosis in a child and two adults. Only one of the patients had a background of estrogen elevation. The other two patients were healthy. We stress the occurrence of this disease in a rare idiopathic form and point out to the relative elevated incidence of it, because the patients discussed in this article were observed for a short period of time.

Introduction

Unilateral nevoid telangiectasia (UNT) is a rare, usually acquired condition described for the first time by Blaschko in 1899[1] and counted among the primary telangiectases.

The exact pathogenesis still remains unknown[1] although some authors believe in a strong association with a hyperestrogenic state. Endothelial cells possess estrogen receptors, and estrogens are felt to play a role in angiogenesis.[2] Indeed UNT is commonly reported in association with puberty, pregnancy, the use of oral contraceptives, hormonal therapy, chronic alcoholism with or without cirrhosis, chronic liver diseases, hepatitis B and C infections, portal hypertension, carcinoid syndrome with liver metastases, and hyperthyroidism.[1] However, there have been reported cases in otherwise healthy individuals, especially male patients.[3] Independently of the underlying mechanism, there seems to be a somatic mosaicism, which becomes obvious in environments with excess of the feminine hormone[1] [Figure 1]. Other theories claim that hyperestrogenemic states or estrogen receptor abnormalities may not play a major role in the pathogenesis of UNT, especially in adult male patients.[3] These theories propose hemodynamic disturbances, neural alterations, angiogenic factors, and aberrations in perivascular supportive connective tissue as causative agents.[4]

Figure 1

Scheme of estrogen-related theory

Case Reports

Case 1

A 9-year-old boy presented with a 1-year history of multiple, scattered, asymptomatic red spots, distributed in a linear and unilateral pattern that involved his right upper extremity (C6, C7, and C8 dermatomes). On closer inspection, blanchable telangiectases were evident surrounded by a pale ring [Figure 2]. Neither his parents nor his older brother had similar cutaneous findings. Laboratory results revealed no abnormalities in complete blood cell count, serum chemistry panel and liver function test. Testosterone and estrogen levels were within normal limits and antibodies to hepatitis A, B, and C were absent.

Figure 2

Involvement of the dorsum of the hand. Characteristic anemic halo (red ring)

Case 2

A 33-year-old man presented with an erythematosus eruption with months of evolution. On physical examination, there were multiple, blanching, scattered, discrete 1 - 3 mm telangiectases with a peripheral anemic halo involving the right lateral inferior portion of his neck, his right shoulder, and right chest [Figure 3]. The rest of the skin, scalp, genitalia, nails, and mucous membranes were clear of lesions, and there was no associated physiological or pathological condition. He denied any alcohol consumption, and laboratory tests were normal (chemistry, hormone, and infectious panel). A skin biopsy was performed, which revealed thin wall dilated capillaries in the papillary and reticular dermis.

Figure 3

Telangiectases distributed along C4, C5, C6, and T1 dermatomes

Case 3

A 35-year-old woman was referred to dermatology with telangiectatic, scattered, pinpoint, erythematosus, and smooth papules over her anterior left chest [Figure 4]. She had delivered a child 2 weeks before and reported that the lesions began during the last 6 months of her pregnancy. She had another 4-year-old child and referred similar cutaneous findings during the last months of her previous pregnancy, which disappeared a few months after delivery. She was otherwise healthy.

Figure 4

Dilated capillaries in the papillary and reticular dermis

Discussion

Blaschko first description of UNT dates from 1899.[1] Since then many alternative designations have been proposed. Nowadays, however the two terms most frequently used are “Unilateral nevoid telangiectasia” and “Unilateral dermatomal superficial telangiectasia,” this last one described by Wilkin in 1978.[4]

Although it is thought to be a rare condition with only fewer than 100 reported cases,[5] we believe that it is more common. However, until today, there is no published article concerning this issue in our country.

Unilateral nevoid telangiectasia may be congenital or acquired. The rare congenital form occurs more frequently in males in an autosomal dominant fashion and appears during or shortly after the neonatal period. On the other hand, the acquired form occurs almost exclusively in young female patients associated with physiologic conditions. Clinically, UNT is characterized by multiple, unilateral, linearly arranged, blanching telangiectases in a dermatomal (most frequently involving the third and fourth cervical dermatomes) or Blaschkoid pattern. Predilection sites are the face, neck, shoulder-arm region, and thorax.[6] A pale ring, referred as an anemic halo, may be observed surrounding the telangiectases. Why the pathology is distributed in a strict unilateral manner is unclear; however, it is thought that a localized increase in estrogen receptors caused by a chromosomal mosaicism, that is unmasked at times of relative estrogen excess, accounts for the distribution that follows Blaschko's lines.

Histologically, there are multiple, dilated, thin-walled vessels lined by plump endothelial cells in the papillary and upper reticular dermis, characteristic of UNT.[1] No signs of endothelial cell proliferation or neo-angiogenesis are seen.

Other laboratory findings recently described are the functional impairments at the blood vessel level in laser Doppler image.[6] This method is able to record subclinical functional defects before they become clinically evident. Lastly, capillaroscopy showed morphologically altered vascular structures with megacapillaries in the fingers’ nail grooves.[6]

UNT typically persists but rarely, in acquired cases, resolves spontaneously if the eliciting factor is removed. Treatment begins with cosmetic camouflage. The use of pulsed dye laser has been a useful alternative in aesthetic improvement of the condition;[1] however, none of the two adult patients or the parents of the child presented in this article accepted to be submitted to such treatment, advocating the lack of symptoms of the disease and the minor aesthetic disarrangement.

Conclusion

The three patients described in this article were observed in a short period of time (3 months), which emphasizes the theory advocated by some authors,[7] that UNT is not a rare condition, but is only subdiagnosed and subreported in the literature, perhaps due to its asymptomatic character. The occurrence of two idiopathic cases points out to the importance of this subtype, with few reported cases to date, and raises again the question whether estrogen receptors do play a significant role in the pathogenesis of this disorder.