Dermatologic findings in hereditary hemorrhagic telangiectasia: association with epistaxis, visceral involvement, and genetics.

BACKGROUND

Hereditary hemorrhagic telangiectasia (HHT) is a genetic vascular disorder characterized by epistaxis, mucocutaneous telangiectasias, and visceral arteriovenous malformations (AVMs). Despite the central role of dermatologic manifestations in diagnosis, there is a lack of comprehensive studies examining these features in large HHT populations. The aim of this paper is to describe the clinical and dermatologic features of a cohort of HHT patients, focusing on the prevalence, distribution, and morphology of mucocutaneous telangiectasias using videodermatoscopy, and to analyze their correlations with systemic manifestations such as epistaxis and visceral AVMs. In addition, the study examines genetic profiles and introduces the HHT Skin Score, a tool to quantify cutaneous involvement.

METHODS

From March 2018 to March 2022, we enrolled a cohort of 62 HHT patients who met the Curaçao diagnostic criteria for definite HHT. Dermatologic assessments included comprehensive examinations, including videodermatoscopic evaluation of cutaneous telangiectasia morphology. Statistical analyses examined associations between telangiectasia distribution, epistaxis severity, presence of pulmonary and hepatic AVMs, and genetic mutations.

RESULTS

Sixty-two patients were evaluated. The areas affected by cutaneous telangiectasias in at least 60% of the patients were the lips (79%), tongue (75.8%), ears (61.3%), and fingertips (71%). Videodermatoscopic image analysis revealed three distinct morphologic variants of telangiectasias: macular/papular, papular, and arborizing. Papular telangiectasias on the lips and tongue were strongly associated with pulmonary AVMs, whereas oral telangiectasias correlated with hepatic AVMs. The HHT Skin Score, developed to quantify the severity of the dermatologic manifestations, showed a significant correlation with the severity of epistaxis.

CONCLUSIONS

This study highlights the importance of dermatologic evaluation in HHT and provides a detailed characterization of the patient population. Mucocutaneous telangiectasias and genetics have a predictive value and may help to tailor clinical surveillance. The HHT Skin Score emerged as a collateral outcome, offering a quantitative framework for evaluating cutaneous involvement and its clinical significance.