Generalized Essential Telangiectasia Research Articles

A Case of Generalized Essential Telangiectasia with Early Onset

Observations: A 26-year-old woman attended to our outpatient clinic with widespread and progressively enlarging redness, without any subjective complaint and history of hemorrhagic episodes. The lesions had been present since her childhood. Dermatological examination showed patches which consisted of multiple fine telangiectasias on the face, anterior neck, trunk, upper and lower extremities and bilateral palms. She was diagnosed as generalized essential telangiectasia (GET) with medical history, clinical apperance of the lesion and histopathological findings. GET is an uncommon disorder characterized with generalized telangiectasia and it occurs in ages between late thirties to late fourties. We report a case of GET with early onset.

Nodular regenerative hyperplasia in a patient with generalized essential telangiectasia: Endotheliopathy as a causal factor

A 60-year-old Caucasian man was referred to the outpatient clinic for evaluation of splenomegaly. The patient's history revealed only a noninsulin-dependent diabetes mellitus and a generalized essential telangiectasia (GET), which developed over the past 20 years with extensive telangiectasias primarily on the arms, legs, and trunk (Fig. 1A). Face and oral/nasal mucosa were spared, epistaxis was denied, and family history of telangiectasias was absent, which clearly distinguishes GET from hereditary hemorrhagic telangiectasia (HHT). The patient stated occasional wine consumption; viral hepatitis and autoimmune serologies were negative. Abdominal ultrasound revealed splenomegaly and a recanalized umbilical vein. Upper gastrointestinal endoscopy showed portal-hypertensive gastropathy (Fig. 1B) and grade II esophageal varices (Fig. 1C), as further evidence of portal hypertension. Prominent mucosal vasculature and angiectatic vessels were found throughout the small and large intestine (Fig. 1D). Transjugular measurement of the hepatic venous pressure gradient (HVPG) was surprisingly normal with a gradient of 4 mmHg, suggesting a prehepatic or presinusoidal form of portal hypertension. Correspondingly, liver biopsy revealed nodular regenerative hyperplasia (NRH) with grade 3 nodularity and megasinusoids (arrowheads, Fig. 1F) in the absence of fibrosis. Hepatic plates were compressed by dilated sinusoids and regenerating hepatocytes, resulting in the typical nodular appearance characteristic for NRH. The patient showed progression to grade III esophageal varices despite treatment with propranolol and developed refractory ascites. Therefore, it was decided to place a transjugular intrahepatic portosystemic shunt (TIPS). During TIPS placement, invasively measured portal pressure was severely increased to 30 mmHg, which was reduced to a portal pressure of 10 mmHg after TIPS placement. Follow-up showed reduction of varices and resolution of ascites. Although the pathogenesis of NRH is not fully understood, a growing body of evidence based on autopsy studies and multiple case series indicates that NRH is the response to impaired hepatic blood supply.1 These hemodynamic changes can be due to thrombotic events or endothelial injury of the microvasculature. NRH has been described in association with vascular disorders, i.e., polyarteritis nodosa, rheumatoid vaculitis, or HHT,2, 3 providing further evidence that an endotheliopathy is a causative factor inducing secondary changes of the liver architecture leading to NRH. Systemic vascular diseases can directly lead to impaired hepatic blood flow through vascular stenosis after endothelial changes/injury or indirectly by causing obliteration due to thrombi generation. GET is another endotheliopathy characterized by widespread telangiectasias with primarily cutaneous involvement, whereas internal organs are usually not affected. Here we describe for the first time a patient with NRH in association with the vascular disorder GET. The availability of a liver biopsy for molecular analysis from our patient allowed measuring messenger RNA (mRNA) expression levels of genes that are known to regulate endothelial differentiation. In comparison to controls,4 we observed a down-regulation of Notch1, Dll4, EphrinB2, and Tek in our patient (Fig. 1F). These genes have recently been shown to be implicated in the process of vascular remodeling in a murine model displaying features of NRH after deletion of Notch1.5 NRH occurred as a secondary event following activation of the sinusoidal endothelium, with ensuing vascular dedifferentiation and intussusceptive angiogenesis. Furthermore, down-regulation of the same set of genes was confirmed in NRH patients.4 Thus, also on the genetic level, endothelial involvement in the pathogenesis of NRH was proven in the presented case. In conclusion, we describe the first case of NRH in a patient with general essential telangiectasia. Our findings suggest that NRH is the hepatic manifestation of this systemic endotheliopathy. Molecular analysis showing dysregulated Notch, Ephrin, and Tek signaling is in line with the recent description in a murine NRH model, further strengthening the hypothesis that NRH is driven by a vascular disorder.

Cutaneous collagenous vasculopathy associated with intravascular occlusive fibrin thrombi

Cutaneous collagenous vasculopathy (CCV) is a rare cutaneous microangiopathy that clinically resembles generalized essential telangiectasia with only 12 cases reported to date. The perivascular fibrosis is thought to be due to production of abnormal collagen by veil cells in the outer vessel walls as a result of unknown factors. This report is of an 84-year-old male with progressive telangiectasia. Biopsies showed characteristic features of CCV. In addition, there were multiple intravascular fibrin thrombi, some organizing and associated with endothelial cell hyperplasia with recanalization reminiscent of glomeruloid bodies and simulating reactive angioendotheliomatosis (RAE). Histochemically and ultrastructurally fibrin was noted within the vessel walls integrating into the fibrous tissue around the vessels; however, the patient had no evidence of coagulation disorder, cryoglobulinemia or cold agglutinemia. Immunofluorescence showed fibrinogen within the vessel walls but no immunoglobulins or C3. As well, there were minimal inflammatory cells. This suggests pauci-inflammatory injury to the endothelial cells by unknown angiogenic factors causing local intravascular fibrin thrombi with fibrin leaking and incorporating into the vessel walls, eventually leading to reparative perivascular fibrosis. This case suggests that some cases of CCV are related to a primary local intravascular occlusive thrombotic microangiopathy. However, the primary triggering factor causing the endothelial cell damage has yet to be elucidated.

La vasculopathie cutanée collagénique : une cause rare de télangiectasies généralisées

Cutaneous collagenous vasculopathy (CCV) is an entity first described in 2000 by Salama and Rosenthal [1]. Because of its rarity, we felt it opportune to report the present case. We describe the case of a 47-year-old woman presenting with widespread telangiectasia distributed symmetrically on the legs, thighs and lower abdomen. The histological and immunohistochemical profile was typical of cutaneous collagenous vasculopathy. Cutaneous collagenous vasculopathy is characterized by generalized cutaneous telangiectasia and unique histopathological features consisting of marked collagen deposition within the vascular wall of the post-capillary venules in the superficial dermis. Its cause remains unknown. The differential diagnosis consists mainly of generalized essential telangiectasia (GET) and telangiectasia macularis eruptiva perstans (TMEP).

Erythematous macules in a 14-year-old girl

Conflict of interest: none declared. A 14‐year‐old girl had a 1‐year history of multiple erythematous macules on her chest, back and legs. The lesions had initially appeared on her left leg and had progressively spread to the back and chest. She had no family or personal history of recurrent haemorrhages or telangiectases, and she was otherwise healthy and was not taking any medication. Skin examination revealed asymptomatic, multiple, round, small (about 15 mm in diameter), light red macules distributed on the chest, back and legs (Fig. 1). The lesions were identified as telangiectases only by loupe visualization and blanched under diascopy. Dermatoscopy showed a symmetrical lesion with multiple small arborizing vessels. There was no mucosal involvement. ... A biopsy specimen revealed dilated vessels without thrombi in the upper and mid dermis (Fig. 2). ... What is your diagnosis? Generalized essential telangiectasia (GET). GET is a distinct subset of idiopathic telangiectases characterized by widespread cutaneous distribution, progression or permanence of the lesions, accentuation by stasis (especially on the legs), and absence of coexisting epidermal or dermal changes such as atrophy, purpura, depigmentation and follicular involvement.1 The clinical appearance is characterized by a diffusely mottled pattern of delicate webs of dilated cutaneous vessels forming a syncytial arrangement with strikingly ecstatic vessels. Other descriptions of GET include plaque‐like, macular, retiform, sheet‐like, net‐like, mottled, nonpalpable, grouped or annular telangiectases. The lesions persist indefinitely through many years without an effect on the patient’s general health. Extracutaneous involvement of the oral mucosa and conjunctivae has also been documented. Standard laboratory tests give normal results.1–4

Collagenous vasculopathy: a report of three cases

Cutaneous collagenous vasculopathy (CCV) is an idiopathic microangiopathy involving the superficial blood vessels that was initially reported in a 54-year-old male. We recently have identified this rarely reported entity in three Caucasian males. The first patient was a 59-year-old male with diabetes, hypertension and hypercholesterolemia who presented with multiple, red, blanchable, asymptomatic telangiectasias covering the extensor surface of the forearms, the lower abdomen and parts of the chest. The second patient was a 62-year-old male with psoriasis and extensive arthritis who presented with prominent telangiectasias on the left lateral distal thigh with mild overlying epidermal atrophy. The third patient was an 80-year-old male with atrial fibrillation who presented with blanching, telangiectatic areas on the abdomen, thighs and back. Histologically, the skin lesions showed ectatic superficial small blood vessels with laminated, hyalinized concretions around vessels that were highlighted with periodic acid-Schiff staining following diastase digestion and reactive by immunohistochemical staining with an antibody to collagen type IV. CCV is a rare and poorly understood entity with distinct histopathological features that may clinically resemble generalized essential telangiectasia (GET), yet which may affect a different demographic population than GET. Awareness of this uncommon entity may further help to elucidate its etiology.

Generalized essential telangiectasia

A 56-year-old woman presented with multiple, erythematous cutaneous vessels that blanched with diascopy and were symmetrically distributed over both lower and upper extremities. The lesions had been present for approximately 6 years and were asymptomatic. Generalized essential telangiectasia (GET) is an idiopathic syndrome of widespread, asymptomatic telangiectases of unknown cause. In our patient, an extensive laboratory evaluation showed low levels of circulating vitamin C as well as the presence of urinary matrix metalloproteinases. The relevance of these abnormal findings is unclear. No uniformly effective treatment exists for GET. Our patient was started on oral doxycycline and was referred for laser therapy.

Generalized essential telangiectasia with conjunctival involvement

Generalized essential telangiectasia (GET) is a rare skin disorder characterized by generalized development of dilated venules, which start at the lower extremities and progressively spread to the rest of the body. Mucous and conjunctival involvement is rare. The diagnosis is based on clinical examination, after excluding other primary and secondary causes of telangiectasia.