Pulsatility of Telangiectasias on Dermoscopy: A Clue to the Diagnosis of Hereditary Hemorrhagic Telangiectasia
Year: 2025
Type: article
Abstract: Dear Editor, Cutaneous telangiectasias can include mat-like telangiectasias (MLT) seen in systemic sclerosis, hereditary hemorrhagic telangiectasia (HHT), rosacea, and spider angiomas.[1,2] Early lesions in HHT may pose a diagnostic challenge as they can mimic MLT seen in systemic sclerosis. Dermoscopic differences between the two disorders were recently described.[1] Herein, we report two patients with HHT, in whom video dermoscopy showed the pulsatility of the telangiectasias, which can be an additional clue to the diagnosis. Two cases (first: 40-year-old male; second: 65-year-old male) with a history of recurrent epistaxis since childhood and a family history of epistaxis presented to the outpatient department. On cutaneous examination, both cases revealed telangiectasias on the fingertips, palate, and dorsum of the tongue [Figure 1a and b]. Dermoscopy (Dermlite, 10×, polarized mode) revealed dense, compact aggregates of thicker capillaries radiating from the center, forming lacunae and globules, separated by whitish structures [Figure 1c and d]. A video captured during dermoscopy showed pulsatility in the telangiectatic macules on the fingertips [Video 1]. The pulsatility was seen in the telangiectasias on the fingertips in both patients (8 lesions in total). Genetic testing in the first case identified a heterozygous mutation in the ACVRL1 gene (exon 7, c.787G>A [p. Asp263Asn]), classified as a variant of uncertain significance. The in-silico prediction suggests that the identified variant is likely responsible for the disease in our patient, with the reference codon being conserved across mammalian species. Although initially classified as a variant of uncertain significance, it aligns with the HHT phenotype observed in our patient.Figure 1: Round to oval telangiectasias are seen on (a) fingertips, (b) palate, and tongue (c and d) Dermoscopy (Dermlite, 10×, polarized mode) on fingertip and tongue showed dense, compact aggregates of thicker capillaries radiating from the center, forming lacunae and globules, separated by whitish structures {"href":"Single Video Player","role":"media-player-id","content-type":"play-in-place","position":"float","orientation":"portrait","label":"Video 1.","caption":"","object-id":[{"pub-id-type":"doi","id":""},{"pub-id-type":"other","content-type":"media-stream-id","id":"1_9jga9u38"},{"pub-id-type":"other","content-type":"media-source","id":"Kaltura"}]} Pulsatility can be observed in various cutaneous lesions, including vascular tumors, malformations, HHT, and pulsating angiomas. Patients with HHT require screening for arteriovenous malformations (AVMs) in the visceral organs.[1] However, in both cases, dermoscopy in video mode revealed pulsatility in the telangiectasias, suggesting the presence of AVMs typical of HHT. In contrast, MLTs of systemic sclerosis do not exhibit pulsatility [Video 2], as they are not associated with AVMs.[1-3] Dermoscopy of telangiectasia in MLT would reveal networks of thin, linear, or serpentine dilated capillaries arranged in interwoven and branching patterns, with a sparse yet uniform capillary distribution throughout the lesion without pulsatility. In contrast, HHT would reveal dense, compact aggregates of thicker capillaries radiating from the center, forming lacunae and globules, separated by whitish structures with pulsatility in addition. Therefore, dermoscopy is crucial in differentiating between MLT of systemic sclerosis and telangiectasias of HHT. Dermoscopy can help screen for complications in patients when genetic testing is unavailable due to cost considerations. {"href":"Single Video Player","role":"media-player-id","content-type":"play-in-place","position":"float","orientation":"portrait","label":"Video 2.","caption":"","object-id":[{"pub-id-type":"doi","id":""},{"pub-id-type":"other","content-type":"media-stream-id","id":"1_rvdmtzi8"},{"pub-id-type":"other","content-type":"media-source","id":"Kaltura"}]} Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form the patients have given their consent for their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest. Use of artificial intelligence (AI) The preparation of this manuscript was carried out entirely by the author without the use of artificial intelligence technologies.
Authors: Arun Somasundaram, Deepti Singh, Avanija S. Gajula, L Karthik, Sheetanshu Kumar
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4413140643