Hemoporfin-Mediated Photodynamic Therapy for Port-Wine Stains on Extremities.

INTRODUCTION: Pulsed dye laser (PDL) is currently considered to be the first-line treatment for port-wine stains (PWSs) on the extremities despite its less than satisfactory therapeutic efficacy. Hemoporfin-mediated photodynamic therapy (HMME-PDT) is a vascular-targeted therapy that has rarely been used to treat PWSs on the extremities. Here, we evaluate the clinical efficacy and safety of HMME-PDT for the treatment of PWSs on the extremities. METHODS: Clinical data and dermoscopic images of PWSs on the extremities were obtained from 65 patients who underwent HMME-PDT between February 2019 and December 2022. The clinical efficacy of HMME-PDT was analyzed by comparing the pre- and post-treatment images. The safety of HMME-PDT was evaluated through observation during the treatment period and post-treatment follow-up. RESULTS: The efficacy rate of a single HMME-PDT session was 63.0% and that of two and three to six sessions was 86.7% and 91.3%, respectively. A positive correlation was found between therapeutic efficacy and the number of HMME-PDT sessions. The therapeutic efficacy of HMME-PDT was better on the proximal extremities than on other parts of the extremities (P = 0.038), and the efficacy of treating PWSs in each site was relatively improved with an increase of treatment time. The clinical efficacy of HMME-PDT differed across four PWS vascular patterns identified by dermoscopy (P = 0.019). However, there was no statistical difference in the therapeutic efficacy based on age, sex, type of PWS, and treatment history (P > 0.05), which may be partly attributed to the relatively small sample size or poor cooperation of infant patients. No obvious adverse reactions were observed during the follow-up period. CONCLUSIONS: HMME-PDT is a very safe and effective treatment for PWSs on the extremities. Multiple HMME-PDT treatments, lesions located in proximal limbs, and PWSs with type I and IV vascular patterns under dermoscopy were associated with higher efficacy of HMME-PDT. Dermoscopy may help predict the clinical efficacy of HMME-PDT. TRIAL REGISTRATION NO: 2020KJT085.

Study of optical coherence tomography angiography for neovascular age-related macular degeneration / 国际眼科杂志(Guoji Yanke Zazhi)

@#AIM: To analyze the characteristics of choroidal neovascularization(CNV)in neovascular age-related macular degeneration(nARMD)patients and the outcome of intravitreal anti-vascular endothelial growth factor(VEGF)treatment by using optical coherence tomography angiography(OCTA). <p>METHODS: A prospective cohort study was carried out, which included 37 eyes of 29 patients with nARMD in West China Hospital during May to December 2017. OCTA scans was conducted to all patients before treatment, 1d, 1wk, 1mo and 3-6mo after treatment. The analysis was performed to evaluate the morphological characteristics, lesion area, parafoveal superficial vessel density and perfusion area of CNV before and after treatment. <p>RESULTS: Among all the subjects, immature structure, small branches, and capillaries responded well to anti-VEGF treatment. Compared with the mean lesion area in nARMD patients before treatment(1.27±1.88mm²), there was significant reduction(1.13±1.79 mm²)1d after treatment, which meant CNV lesion decreased 1d after treatment, and stabilized 1mo later(<i>P</i>=0.001). Obvious decrease was observed both in parafoveal superficial vessel density(<i>P</i>=0.003)and perfusion area(<i>P</i>=0.015)3mo after treatment in nARMD patients. <p>CONCLUSION: OCTA, a non-invasive diagnostic examination, clearly identified tiny structures of CNV, quantified the lesion area and displayed specific vasculature in nARMD patients. Furthermore, retinal microcirculation can be detected using OCTA, which provides an effective approach of monitoring the progression and treatment effect of nARMD.

A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling.

Piebaldism is a rare autosomal dominant genodermatosis, manifesting as congenital and stable depigmentation of the skin and white forelock. It has been found to be associated with mutations in the KIT or SLUG genes. We report a Chinese piebaldism family including a 28-year-old woman and her 3-year-old son with characteristics of white patches and forelock associated with numerous brown macules and patches. Genomic DNA samples of the proband and her son were extracted from their peripheral blood. One hundred unrelated healthy individuals were used as controls. All coding regions of KIT, SLUG, and NF1 genes were amplified by polymerase chain reaction using exon flanking intronic primers and Sanger sequencings were performed. DNA sequencing revealed heterozygous missense c.2431T>G mutation in exon 17 of the KIT gene in the proband and the affected son. No potentially pathogenic variant was identified in SLUG or NF1 genes. The nucleotide substitution was not found in 100 unrelated control individuals. This study reveals a novel KIT mutation in piebaldism, and it further supports that café-au-lait macules and intertriginous freckling of piebaldism are parts of pigmented anomaly in piebaldism, which does not necessarily represent coexistence of neurofibromatosis type 1 (NF1).

Patchy alopecia areata sparing gray hairs: a case series.

Alopecia areata is an unpredictable, non-scarring hair loss condition. Patchy alopecia areata sparing gray hairs is rare. Here we present 4 cases with patchy non-scarring hair loss, which attacked pigmented hairs only and spared gray hairs. It should be differentiated from vitiligo, colocalization of vitiligo and alopecia areata, and depigmented hair regrowth after alopecia areata.