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This study aims to reduce the misdiagnosis rate of PWSs and improve the diagnosis of CM-AVM using ultrasound. Furthermore, we seek to provide more evidence-based recommendations for the treatment of patients with probable CM-AVM syndrome, particularly those presenting with erythema.
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Background: Exacerbation of erythema following photodynamic therapy (PDT) in patients with probable capillary malformation-arteriovenous malformation (CM-AVM) syndrome, may be attributed to misdiagnosis as port-wine stains (PWSs).
Objective: To identify the ultrasound features of patients with exacerbation of erythema following PDT for a definite diagnosis.
Methods: A retrospective single-center study was conducted on PWS patients with exacerbation of erythema following PDT. The clinical and ultrasonic features were reviewed and analysed. One low-frequency and two high-frequency ultrasound (HFUS) devices were used to examine the lesions and the contralateral normal skin.
Results: The clinical characteristics of 16 patients were consistent with those of high-flow vascular stains (HFVS). Ultrasound findings revealed skin and hypodermis thickening, increased blood flow signals with an arteriovenous malformation (AVM) waveform and deeper, larger blood vessels in the dermis and hypodermis of pink macules (PMs) compared to normal skin. In the absence of genetic diagnosis, PWS patients with exacerbation of erythema following PDT were diagnosed as having probable CM-AVM syndrome.
Limitations: Retrospective single-center design and small sample size. Conclusion: Patients with PWSs are advised to undergo low-frequency ultrasound examinations to avoid misdiagnosis. HFUS can serve as a complementary method to promptly identify underlying AVMs beneath the PMs. We do not recommend PDT treatment for patients with probable CM-AVM syndrome.
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Inclusion and exclusion criteria
Inclusion Criteria:
Patients who were greater than or equal to 1 year old at the time of their first HMME-PDT treatment.
Patients who experiencing exacerbation of clinical symptoms, such as darker coloration than before treatment.
16 participants in 1 patient group
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Data sourced from clinicaltrials.gov
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