OBJECTIVES: Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant genetic disorder characterized by pathogenic blood vessel development and maintenance. HHT type 1 (HHT1) and type 2 (HHT2) are caused by variants in endoglin (ENG) and activin receptor-like kinase-1 (ACVRL1), respectively. The aim of this study was to identify the spectrum of pathogenic variants in ENG and ACVRL1 in Austrian HHT families. METHODS: In this prospective study, eight Austrian HHT families were screened for variants in ENG and ACVRL1 by polymerase chain reaction amplification and sequencing of DNA isolated from peripheral blood. RESULTS: Heterozygous variants were identified in all families under study. HHT1 was caused by a novel c.816+1G>A splice donor variant, a novel c.1479C>A nonsense (p.Cys493X) variant and a published c.1306C>T nonsense (p.Gln436X) variant in ENG. Variants found in ACVRL1 were novel c.200G>C (p.Arg67Pro) and known c.772G>A (p.Gly258Ser) missense variants in highly conserved residues, a known heterozygous c.100dupT frameshift (p.Cys34Leufs*4) and the known c.1204G>A missense (p.Gly402Ser) and c.1435C>T nonsense (p.Arg479X) variants as causes of HHT2. CONCLUSION: Novel and published variants in ENG (37.5%) and ACVRL1 (62.5%) were exclusively identified as the cause of HHT in an Austrian patient cohort. Identification of novel causative genetics variants should facilitate the development of tailored therapeutical applications in the future treatment of autosomal dominant HHT.
Activins ; Blood Vessels ; Cohort Studies ; DNA ; Genetics ; Humans ; Polymerase Chain Reaction ; Prospective Studies ; Telangiectasia, Hereditary Hemorrhagic ; Telangiectasis ; Tissue Donors

BACKGROUND: Rosacea is a common dermatosis characterized by erythema, telangiectasia, papules and pustules. OBJECTIVE: We aimed to evaluate contact sensitivity in the rosacea patients. METHODS: We included 65 rosacea patients and 60 healthy volunteers in the study. The patient and control groups were patch tested with European baseline series and cosmetic series. RESULTS: A positive reaction to at least 1 allergen in the European standard series was found in 32.3% of rosacea patients and 20.0% of subjects in the control group while the relevant numbers were 30.8% of rosacea patients and 10% of controls with the cosmetic series (p=0.08). In total, we found a positive reaction to at least 1 allergen in 38.5% of patients and 25.0% of controls (p=0.15). We did not find a statistically significant relationship between a positive reaction to 1 allergen in total and the gender, skin type, rosacea type, ocular involvement, age and disease duration. There were more symptoms in patients with a positive reaction to allergens (p < 0.001). CONCLUSION: Contact sensitivity was detected more common in rosacea patients. Patch testing may be useful in the treatment and follow up of rosacea patients especially if symptoms such as itching, burning and stinging are present.
Allergens ; Bites and Stings ; Burns ; Dermatitis, Contact* ; Erythema ; Follow-Up Studies ; Healthy Volunteers ; Humans ; Patch Tests* ; Pruritus ; Rosacea* ; Skin ; Skin Diseases ; Telangiectasis

Topical corticosteroids are widely prescribed and used. As interest in the use of corticosteroids grows, people are increasingly exposed to misinformation that causes an excessive fear of side effects. Topical corticosteroids mainly have vasoconstrictive, anti-inflammatory, immunosuppressive, and anti-proliferative effects. Corticosteroids are prescribed based on the patient's age, the site and severity of the lesion, and patient compliance. Adverse reactions include skin atrophy, telangiectasia, hypopigmentation, and steroid-induced acne. To prevent the side effects of topical corticosteroids and to minimize phobias about topical corticosteroids in the future, we suggest providing proper information and education for both physicians and patients about the safety, efficacy, and proper use of topical steroids. In this article, we review basic information about topical corticosteroids and guidelines for their use.
Acne Vulgaris ; Adrenal Cortex Hormones ; Atrophy ; Education ; Humans ; Hypopigmentation ; Patient Compliance ; Phobic Disorders ; Skin ; Steroids ; Telangiectasis

PURPOSE: We report the detection of peripheral retinal vascular abnormalities in the fellow eye with normal fundus in children with unilateral Coats' disease. METHODS: The clinical records of patients diagnosed with Coats' disease were retrospectively reviewed. We recorded the subjects' characteristics and obtained fundus photography and fluorescein angiography (FA) images. The main outcome measure was peripheral vascular abnormalities in the contralateral eye with normal fundus in children with unilateral Coats' disease, observed with FA. RESULTS: Out of 47 patients with Coats' disease, two (4.3%) were diagnosed with clinically bilateral Coats' disease. Of the 45 patients with presumed unilateral Coats' disease, four (8.9%) had bilateral abnormal peripheral vasculature in FA. The mean age of these four patients was 6.4 ± 5.4 years (range, 1 to 14 years), and three patients were male (75%). All four had peripheral retinal nonperfusion, and two (50%) received laser photocoagulation due to peripheral leakage with telangiectatic vessels. CONCLUSIONS: Coats' disease may more often be a bilateral disease with asymmetry than previously thought. Patients with Coats' disease should undergo careful examination of the fellow eye with FA in order to detect and treat vascular abnormalities that are not visible clinically.
Child ; Fluorescein Angiography ; Fluorescein ; Humans ; Light Coagulation ; Male ; Outcome Assessment (Health Care) ; Photography ; Retinal Telangiectasis ; Retinaldehyde ; Retrospective Studies

No abstract available.
Polymicrogyria ; Megalencephaly ; Skin Diseases, Vascular ; Telangiectasis ; Abnormalities, Multiple ; Capillaries ; Vascular Malformations

Arteriovenous malformation (AVM) of the mandible is a rare vascular condition that can manifest as a wide range of symptoms and, on rare occasions, cause fatal hemorrhage. The symptoms of mandibular AVM can range from soft tissue swelling and tooth mobility to severe hemorrhage. The recognition of early symptoms is crucial for the prevention of a fatal hemorrhage and for the proper diagnosis and treatment of mandibular AVM. For emergency hemostasis of a ruptured mandibular AVM, manual compression with gauze, topical thrombin, absorbable hemostat, suturing the lesion, and replanting the extracted tooth is recommended. Multiple treatment options for mandibular AVM are available, such as arterial embolization, venous embolization, direct surgical closure, and bone resection. A combination of treatment options should be considered in complicated cases. We report a case of a 10-year-old girl with a previous history of telangiectasia on the right cheek presented with cardiac arrest resulting from massive bleeding immediately after a tooth extraction.
Arteriovenous Malformations ; Cheek ; Child ; Diagnosis ; Emergencies ; Female ; Heart Arrest ; Hemorrhage ; Hemostasis ; Humans ; Mandible ; Telangiectasis ; Thrombin ; Tooth ; Tooth Extraction ; Tooth Mobility

No abstract available.
Humans ; Telangiectasis

BACKGROUND/AIMS: To evaluate patients with portal hypertension (PH) of varied etiologies for portal hypertensive enteropathy (PHE) using the PillCam SB3 capsule endoscopy (CE) system. METHODS: Consecutive patients with PH presenting with unexplained anemia and/or occult gastrointestinal bleeding were evaluated using the PillCam SB3 CE system. Abnormal findings were categorized as vascular or non-vascular. The patients with ongoing bleeding caused by PHE were treated. The correlation of the CE scores of PHE with the clinical, laboratory, and endoscopic features was determined. RESULTS: Of the 43 patients included in the study, 41 (95.3%) showed PHE findings. These included varices (67.4%), red spots (60.5%), erythema (44.2%), villous edema (46.5%), telangiectasia (16.3%), and polyps (16.3%). The CE scores varied from 0 to 8 (mean±standard deviation, 4.09±1.8). Five patients (11.6%) showed evidence of ongoing or recent bleeding due to PHE. Three of these five patients underwent endotherapy, and one patient underwent radiological coil placement. CONCLUSIONS: The PillCam SB3 CE system revealed a high prevalence of PHE in the patients with PH. Using this system, evidence of bleeding due to PHE was found in a small but definite proportion of the patients.
Anemia ; Capsule Endoscopy* ; Edema ; Erythema ; Fibrosis ; Hemorrhage ; Humans ; Hydrogen-Ion Concentration ; Hypertension, Portal* ; Intestine, Small* ; Polyps ; Prevalence ; Telangiectasis ; Varicose Veins

BACKGROUND: There are few pharmacologic options to reduce erythema and flushing in patients with recalcitrant erythematotelangiectatic rosacea (ETR). We previously reported two cases of refractory flushing and erythema of rosacea that were successfully treated with intradermal botulinum toxin injection, and additional research is needed to prove the efficacy and safety of this treatment. OBJECTIVE: To report the efficacy and safety of botulinum toxin injection as an aid in persistent erythema of rosacea patients. METHODS: A total of 20 Korean patients with recalcitrant ETR were enrolled to receive treatment by injection of botulinum toxin. Patients received one treatment of intradermal botulinum toxin injection and were assessed 1, 2, 4, and 8 weeks after treatment. The severity of erythema and telangiectasia was investigated by a non-treating physician, and the Erythema Index (EI) was assessed by mexameter at each visit. Patient satisfaction and any adverse events were also assessed at each visit. RESULTS: 17 patients completed all follow-up visits and were included in the analysis. Intradermal injection of botulinum toxin significantly reduced erythema severity and EI in ETR patients. Patients reported a satisfaction score of 2.94±0.56 at 8 weeks after treatment. Except for three patients who discontinued the study early due to inconvenience of facial muscle paralysis, 17 patients participating in the final analysis did not report side effects except injection pain at the time of the procedure. CONCLUSION: Intradermal injection of botulinum toxin can be used as an effective and relatively safe adjuvant agent for recalcitrant and persistent erythema of ETR patients.
Botulinum Toxins* ; Erythema ; Facial Muscles ; Flushing ; Follow-Up Studies ; Humans ; Injections, Intradermal ; Paralysis ; Patient Satisfaction ; Pilot Projects* ; Rosacea* ; Telangiectasis

Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital vascular disorder. The skin lesions associated with CMTC include persistent, reticulated vascular patches and telangiectasia, and they are sometimes associated with underlying atrophy and ulceration. The condition is present at birth and tends to improve with age, although some skin lesions remain unchanged throughout life. We encountered two patients with CMTC: a 12-day-old infant and a 21-year-old woman with a history of CMTC since birth. Both patients had localized reticulated purpuric patches with atrophy. During follow-up, although the purpuric patches improved in both patients, there were no changes in the skin atrophy in either patient. Herein, we present these cases showing the changes in the cutaneous features of CMTC over time and demonstrate that CMTC at birth may persist throughout life.
Atrophy ; Female ; Follow-Up Studies ; Humans ; Infant ; Parturition ; Skin ; Telangiectasis ; Ulcer ; Young Adult