CED
Clinical dermatology • Concise report
Clinical and Experimental Dermatology
An unusual presentation of generalized essential telangiectasia S. Yadav, S. Kaye and N. Wilson Royal Liverpool University Hospital, Liverpool, UK doi:10.1111/ced.12568
Summary
Generalized essential telangiectasia (GET) is a rare skin condition of unknown aetiology. We report a case of a 39-year-old man who presented to the ophthalmology department with reduced vision, and was diagnosed with generalized essential telangiectasia by indocyanine green and fluorescein angiography of his eyes. The patient was noted to have corneal neovascularization (which was responsible for his reduced visual acuity) and conjunctival telangiectases seen by angiography. Further examination by the dermatology department identified widespread telangiectases on the patient’s legs and trunk. Systemic causes and alternative diagnoses were excluded by further investigations, and the patient was eventually diagnosed with GET. Following discharge from the dermatology department, the patient presented with chest pain and required emergency surgery for a type A thoracic aortic dissection. Previous research has not identified an association between GET, corneal neovascularization and thoracic aortic aneurysm formation.
Generalized essential telangiectasia (GET) is a rare cutaneous disorder characterized by the development of widespread telangiectases without associated systemic disease.1 These lesions often start in the lower extremities, and gradually spread over time to involve the rest of the body.1 We report a case that was diagnosed incidentally by ophthalmic investigations.
Report A 39-year-old man presented to the ophthalmology department at the Royal Liverpool Hospital with a 5-year history of increasingly blurred vision. He had previously failed an assessment for laser eye surgery. A slit-lamp examination was performed, and the patient was noted to have corneal neovascularization in both eyes, which was presumed to be due to previous viral infection or limbal stem cell failure (Fig. 1a). This was responsible for his reduced vision, and also made him unsuitable for laser eye surgery. Prominent Correspondence: Dr Sohraab Yadav, St. Paul’s Eye Unit, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8XP, UK E-mail: [email protected] Conflict of interest: the authors declare that they have no conflicts of interest. Accepted for publication 7 August 2014
ª 2015 British Association of Dermatologists
conjunctival vessels were noted, along with a capillary haemangioma on the patient’s right upper lid. The rest of his eye examination was unremarkable. In an effort to reduce the corneal neovascularization, the patient was started on first-line treatment with steroid eye drops and ocular lubricants. However, the patient’s corneal neovascularization failed to improve with topical steroids, so further investigation with fluorescein and indocyanine green angiography was performed in order to plan more invasive treatment. These dyes are injected into the bloodstream, and are detected using a polarized camera. As well as showing the area of corneal neovascularization, these investigations identified widespread conjunctival and lid telangiectasia (Fig. 1b). Following the findings of multiple telangiectases, the patient was referred to the dermatology department for a formal diagnosis. During the dermatology review, the patient was noted to have numerous telangiectases on his arms, legs and trunk (Fig. 2). These lesions were not painful or symptomatic in any way, and blanched with pressure. The patient reported that the ankle lesions had appeared first, approximately 4 years before presentation, and that the central lesions were more recent. Multiple erythematous papules were also present, including a large lesion on his eyelid. This
Clinical and Experimental Dermatology (2015) 40, pp513–515
513
An unusual presentation of generalized essential telangiectasia S. Yadav et al.
(a)
(a)
(b) (b)
Figure 2 (a) Telangiectases were identified on the patient’s legs,
Figure 1 (a) Colour image of the right eye showing the pres-
ence of significant neovascularization of the temporal cornea along with prominent, telangiectatic conjunctival vessels. (b) Indocyanine green angiography image of the right eye. The extensive network of corneal new vessels is visible in the temporal cornea. Multiple telangiectatic vessels are identifiable and most clearly visible adjacent to the nasal cornea. A capillary haemangioma of the upper lid also demonstrated significant uptake of dye.
was excised surgically by the ophthalmology team along with the adjacent telangiectatic skin. Histology confirmed the lesion was a capillary haemangioma, with the adjacent skin demonstrating dilated thinwalled vessels in the papillary dermis, consistent with a diagnosis of GET. Haematological investigations including a full blood count, urea and electrolytes, clotting screen, thrombophilia screen, liver function tests and a vasculitis screen were normal, excluding systemic causes of telangiectases such as autoimmune and liver disease. Tests for a-galactosidase A levels were performed to excude Fabry disease due to the presence of conjunctival lesions, but the results of these were also normal. Specialist ophthalmic investigations for retinal and
514
Clinical and Experimental Dermatology (2015) 40, pp513–515
and seen most clearly on his ankles; (b) large telangiectases were also visible on the patient’s trunk, as shown here on the left shoulder.
optic nerve function, including electroretinography and electro-oculography, were normal. The patient had no relevant medical history and was otherwise completely healthy. There was no history of mucosal bleeding. Mucosal examination was normal, and close examination of skin lesions did not suggest hereditary haemorrhagic telangiectasia, which was excluded on this basis. The patient’s daughter had also been seen in the ophthalmology department for corneal neovascularization, but she did not have generalized telangiectasia. There was no other relevant family history, but the patient and his family have been referred for genetic testing. Following discharge from the dermatology clinic, the patient presented with chest pain to the emergency department 4 months later. He was diagnosed with a type A thoracic aortic dissection and underwent emergency surgery with a mechanical aortic root and ascending aorta replacement. Postoperatively, he developed atrial fibrillation, which required electrical cardioversion. He is currently undergoing cardiac rehabilitation.
ª 2015 British Association of Dermatologists
An unusual presentation of generalized essential telangiectasia S. Yadav et al.
GET is a rare disorder, and the diagnosis is considered only after systemic causes have been excluded.2 The skin lesions represent capillary dilatation within the superficial dermis, and so are readily blanched by external pressure.3 They usually start on the lower extremities, as they had done on our patient’s ankles, and progress proximally to involve the trunk and upper limbs.4 The lesions are usually asymptomatic, but mild symptoms such as pruritus and tingling have been reported.2 More severe symptoms such as bleeding should raise suspicion of alternative diagnoses such as hereditary haemorrhagic telangiectasia. The pathogenesis of this condition is unknown, but vitamin C deficiency may contribute to its development.3 It is most common in adult white women, typically presenting in the fourth and fifth decades of life.3 Effective treatment options are not yet available, but limited success has been reported with oral tetracycline antibiotics such as doxycycline, which are thought to act by inhibiting matrix metalloproteinases.3,5 Other drugs that may improve lesions include aciclovir and ketoconazole.6 Laser therapy with frequency-doubled neodymium:yttrium–aluminium–garnet (Nd:YAG) laser and flashlamp-pumped pulsed dye laser has also been shown to be effective in case reports.3 Recent evidence suggests that treatment with intense pulsed light may also be a beneficial and potentially safer alternative to laser therapy in some patients.7 Conjunctival and mucosal involvement is rare in GET.8 Our patient had conjunctival telangiectasia in association with corneal neovascularization. Possible explanations for the corneal neovascularization are chronic irritation caused by inflammatory eye conditions, previous eye infections and trauma.9 As our patient did not have any relevant ophthalmic history, he is currently undergoing further investigation for limbal stem cell deficiency, which may explain the new vessels in both corneas. To date, no previous reports have identified a link between corneal neovascularization and GET. Aortic dissection has been reported with hereditary haemorrhagic telangiectasia,10 but to our knowledge, has never been seen with GET. Our patient did not have any of the other typical gastrointestinal, respiratory or central nervous system manifestations of hereditary haemorrhagic telangiectasia. Another previously reported rare association of GET is ‘watermelon stomach’, a vascular disorder of the gastric mucosa, which was also absent in our patient.3 In conclusion, we report a unique case of GET with conjunctival telangiectases, corneal neovascularization and aortic dissection. This is the first documented case of use of ophthalmic angiography images to diagnose
ª 2015 British Association of Dermatologists
GET. This is also the first documented case of GET with conjunctival involvement in the presence of symmetrical corneal neovascularization and thoracic aortic dissection. Vigilance for any new symptoms or signs and thorough investigation is important for all patients diagnosed with GET.
Learning points GET is a diagnosis of exclusion. The condition is unusual, and conjunctival
involvement is rare. Treatment with tetracyclines and lasers may be
useful in a minority of patients. Patients may require ophthalmological investi-
gation.
References 1 McGrae JD Jr, Winkelmann RK. Generalized essential telangiectasia: report of a clinical and histochemical study of 13 patients with acquired cutaneous lesions. JAMA 1963; 185: 909–13. 2 Long D, Marshman G. Generalized essential telangiectasia. Australas J Dermatol 2004; 45: 67–9. 3 Karen JK, Mengden SJ, Kamino H, Shupack JL. Generalized essential telangiectasia. Dermatol Online J 2008; 14: 9. 4 Gordon Spratt EA, DeFelice T, O’Reilly K et al. Generalized essential telangiectasia. Dermatol Online J 2012; 18: 13. 5 Shelley WB. Essential progressive telangiectasia. Successful treatment with tetracycline. JAMA 1971; 216: 1343–4. 6 Shelley WB, Shelley ED. Essential progressive telangiectasia in an autoimmune setting: successful treatment with acyclovir. J Am Acad Dermatol 1989; 21: 1094–6. 7 Fernandez-Torres R, del Pozo J, de la Torre C, Fonseca E. Generalized essential telangiectasia: a report of three cases treated using an intense pulsed light system. Actas Dermosifiliogr 2010; 101: 192–3. 8 Ali MM, Teimory M, Sarhan M. Generalized essential telangiectasia with conjunctival involvement. Clin Exp Dermatol 2006; 31: 781–2. 9 Rolfsen ML, Frisard NE, Stern EM et al. Corneal neovascularization: a review of the molecular biology and current therapies. Expert Rev Ophthalmol 2013; 8: 167–89. 10 Hsi DH, Ryan GF, Hellems SO et al. Large aneurysms of the ascending aorta and major coronary arteries in a patient with hereditary hemorrhagic telangiectasia. Mayo Clin Proc 2003; 78: 774–6.
Clinical and Experimental Dermatology (2015) 40, pp513–515
515
Clinical dermatology • Concise report
Clinical and Experimental Dermatology
An unusual presentation of generalized essential telangiectasia S. Yadav, S. Kaye and N. Wilson Royal Liverpool University Hospital, Liverpool, UK doi:10.1111/ced.12568
Summary
Generalized essential telangiectasia (GET) is a rare skin condition of unknown aetiology. We report a case of a 39-year-old man who presented to the ophthalmology department with reduced vision, and was diagnosed with generalized essential telangiectasia by indocyanine green and fluorescein angiography of his eyes. The patient was noted to have corneal neovascularization (which was responsible for his reduced visual acuity) and conjunctival telangiectases seen by angiography. Further examination by the dermatology department identified widespread telangiectases on the patient’s legs and trunk. Systemic causes and alternative diagnoses were excluded by further investigations, and the patient was eventually diagnosed with GET. Following discharge from the dermatology department, the patient presented with chest pain and required emergency surgery for a type A thoracic aortic dissection. Previous research has not identified an association between GET, corneal neovascularization and thoracic aortic aneurysm formation.
Generalized essential telangiectasia (GET) is a rare cutaneous disorder characterized by the development of widespread telangiectases without associated systemic disease.1 These lesions often start in the lower extremities, and gradually spread over time to involve the rest of the body.1 We report a case that was diagnosed incidentally by ophthalmic investigations.
Report A 39-year-old man presented to the ophthalmology department at the Royal Liverpool Hospital with a 5-year history of increasingly blurred vision. He had previously failed an assessment for laser eye surgery. A slit-lamp examination was performed, and the patient was noted to have corneal neovascularization in both eyes, which was presumed to be due to previous viral infection or limbal stem cell failure (Fig. 1a). This was responsible for his reduced vision, and also made him unsuitable for laser eye surgery. Prominent Correspondence: Dr Sohraab Yadav, St. Paul’s Eye Unit, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8XP, UK E-mail: [email protected] Conflict of interest: the authors declare that they have no conflicts of interest. Accepted for publication 7 August 2014
ª 2015 British Association of Dermatologists
conjunctival vessels were noted, along with a capillary haemangioma on the patient’s right upper lid. The rest of his eye examination was unremarkable. In an effort to reduce the corneal neovascularization, the patient was started on first-line treatment with steroid eye drops and ocular lubricants. However, the patient’s corneal neovascularization failed to improve with topical steroids, so further investigation with fluorescein and indocyanine green angiography was performed in order to plan more invasive treatment. These dyes are injected into the bloodstream, and are detected using a polarized camera. As well as showing the area of corneal neovascularization, these investigations identified widespread conjunctival and lid telangiectasia (Fig. 1b). Following the findings of multiple telangiectases, the patient was referred to the dermatology department for a formal diagnosis. During the dermatology review, the patient was noted to have numerous telangiectases on his arms, legs and trunk (Fig. 2). These lesions were not painful or symptomatic in any way, and blanched with pressure. The patient reported that the ankle lesions had appeared first, approximately 4 years before presentation, and that the central lesions were more recent. Multiple erythematous papules were also present, including a large lesion on his eyelid. This
Clinical and Experimental Dermatology (2015) 40, pp513–515
513
An unusual presentation of generalized essential telangiectasia S. Yadav et al.
(a)
(a)
(b) (b)
Figure 2 (a) Telangiectases were identified on the patient’s legs,
Figure 1 (a) Colour image of the right eye showing the pres-
ence of significant neovascularization of the temporal cornea along with prominent, telangiectatic conjunctival vessels. (b) Indocyanine green angiography image of the right eye. The extensive network of corneal new vessels is visible in the temporal cornea. Multiple telangiectatic vessels are identifiable and most clearly visible adjacent to the nasal cornea. A capillary haemangioma of the upper lid also demonstrated significant uptake of dye.
was excised surgically by the ophthalmology team along with the adjacent telangiectatic skin. Histology confirmed the lesion was a capillary haemangioma, with the adjacent skin demonstrating dilated thinwalled vessels in the papillary dermis, consistent with a diagnosis of GET. Haematological investigations including a full blood count, urea and electrolytes, clotting screen, thrombophilia screen, liver function tests and a vasculitis screen were normal, excluding systemic causes of telangiectases such as autoimmune and liver disease. Tests for a-galactosidase A levels were performed to excude Fabry disease due to the presence of conjunctival lesions, but the results of these were also normal. Specialist ophthalmic investigations for retinal and
514
Clinical and Experimental Dermatology (2015) 40, pp513–515
and seen most clearly on his ankles; (b) large telangiectases were also visible on the patient’s trunk, as shown here on the left shoulder.
optic nerve function, including electroretinography and electro-oculography, were normal. The patient had no relevant medical history and was otherwise completely healthy. There was no history of mucosal bleeding. Mucosal examination was normal, and close examination of skin lesions did not suggest hereditary haemorrhagic telangiectasia, which was excluded on this basis. The patient’s daughter had also been seen in the ophthalmology department for corneal neovascularization, but she did not have generalized telangiectasia. There was no other relevant family history, but the patient and his family have been referred for genetic testing. Following discharge from the dermatology clinic, the patient presented with chest pain to the emergency department 4 months later. He was diagnosed with a type A thoracic aortic dissection and underwent emergency surgery with a mechanical aortic root and ascending aorta replacement. Postoperatively, he developed atrial fibrillation, which required electrical cardioversion. He is currently undergoing cardiac rehabilitation.
ª 2015 British Association of Dermatologists
An unusual presentation of generalized essential telangiectasia S. Yadav et al.
GET is a rare disorder, and the diagnosis is considered only after systemic causes have been excluded.2 The skin lesions represent capillary dilatation within the superficial dermis, and so are readily blanched by external pressure.3 They usually start on the lower extremities, as they had done on our patient’s ankles, and progress proximally to involve the trunk and upper limbs.4 The lesions are usually asymptomatic, but mild symptoms such as pruritus and tingling have been reported.2 More severe symptoms such as bleeding should raise suspicion of alternative diagnoses such as hereditary haemorrhagic telangiectasia. The pathogenesis of this condition is unknown, but vitamin C deficiency may contribute to its development.3 It is most common in adult white women, typically presenting in the fourth and fifth decades of life.3 Effective treatment options are not yet available, but limited success has been reported with oral tetracycline antibiotics such as doxycycline, which are thought to act by inhibiting matrix metalloproteinases.3,5 Other drugs that may improve lesions include aciclovir and ketoconazole.6 Laser therapy with frequency-doubled neodymium:yttrium–aluminium–garnet (Nd:YAG) laser and flashlamp-pumped pulsed dye laser has also been shown to be effective in case reports.3 Recent evidence suggests that treatment with intense pulsed light may also be a beneficial and potentially safer alternative to laser therapy in some patients.7 Conjunctival and mucosal involvement is rare in GET.8 Our patient had conjunctival telangiectasia in association with corneal neovascularization. Possible explanations for the corneal neovascularization are chronic irritation caused by inflammatory eye conditions, previous eye infections and trauma.9 As our patient did not have any relevant ophthalmic history, he is currently undergoing further investigation for limbal stem cell deficiency, which may explain the new vessels in both corneas. To date, no previous reports have identified a link between corneal neovascularization and GET. Aortic dissection has been reported with hereditary haemorrhagic telangiectasia,10 but to our knowledge, has never been seen with GET. Our patient did not have any of the other typical gastrointestinal, respiratory or central nervous system manifestations of hereditary haemorrhagic telangiectasia. Another previously reported rare association of GET is ‘watermelon stomach’, a vascular disorder of the gastric mucosa, which was also absent in our patient.3 In conclusion, we report a unique case of GET with conjunctival telangiectases, corneal neovascularization and aortic dissection. This is the first documented case of use of ophthalmic angiography images to diagnose
ª 2015 British Association of Dermatologists
GET. This is also the first documented case of GET with conjunctival involvement in the presence of symmetrical corneal neovascularization and thoracic aortic dissection. Vigilance for any new symptoms or signs and thorough investigation is important for all patients diagnosed with GET.
Learning points GET is a diagnosis of exclusion. The condition is unusual, and conjunctival
involvement is rare. Treatment with tetracyclines and lasers may be
useful in a minority of patients. Patients may require ophthalmological investi-
gation.
References 1 McGrae JD Jr, Winkelmann RK. Generalized essential telangiectasia: report of a clinical and histochemical study of 13 patients with acquired cutaneous lesions. JAMA 1963; 185: 909–13. 2 Long D, Marshman G. Generalized essential telangiectasia. Australas J Dermatol 2004; 45: 67–9. 3 Karen JK, Mengden SJ, Kamino H, Shupack JL. Generalized essential telangiectasia. Dermatol Online J 2008; 14: 9. 4 Gordon Spratt EA, DeFelice T, O’Reilly K et al. Generalized essential telangiectasia. Dermatol Online J 2012; 18: 13. 5 Shelley WB. Essential progressive telangiectasia. Successful treatment with tetracycline. JAMA 1971; 216: 1343–4. 6 Shelley WB, Shelley ED. Essential progressive telangiectasia in an autoimmune setting: successful treatment with acyclovir. J Am Acad Dermatol 1989; 21: 1094–6. 7 Fernandez-Torres R, del Pozo J, de la Torre C, Fonseca E. Generalized essential telangiectasia: a report of three cases treated using an intense pulsed light system. Actas Dermosifiliogr 2010; 101: 192–3. 8 Ali MM, Teimory M, Sarhan M. Generalized essential telangiectasia with conjunctival involvement. Clin Exp Dermatol 2006; 31: 781–2. 9 Rolfsen ML, Frisard NE, Stern EM et al. Corneal neovascularization: a review of the molecular biology and current therapies. Expert Rev Ophthalmol 2013; 8: 167–89. 10 Hsi DH, Ryan GF, Hellems SO et al. Large aneurysms of the ascending aorta and major coronary arteries in a patient with hereditary hemorrhagic telangiectasia. Mayo Clin Proc 2003; 78: 774–6.
Clinical and Experimental Dermatology (2015) 40, pp513–515
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