Unique Variant of Cerebrotendinous Xanthomatosis Presenting With Eyelid Involvement Due to Heterozygous CYP7A1 and SLC10A1 Gene Mutations.

ABSTRACT: We report a case of a novel phenotypic variant of cerebrotendinous xanthomatosis (CTX) with an adult onset, caused by 2 coexisting mutations involving the CYP7A1 and SLC10A1 genes. A 49-year-old male patient presented with eyelid xanthomatosis associated with dermatochalasis, nystagmus, right-sided paresis with hyperreflexia and atypical parkinsonism. Bilateral xanthomatous plaques involving both Achilles tendons were subsequently detected. Histopathology of the eyelids demonstrated marked diffuse stromal infiltrates of prominent foamy histiocytes. His lipid profile showed only a slightly elevated non-high density lipoprotein cholesterol level but with normal cholesterol and cholestanol levels. By contrast, classic CTX characteristically demonstrates a markedly elevated cholestanol and a mutation involving the CYP27A1 gene for enzyme cholesterol 27-hydroxylase. Unexpectedly, molecular studies on this patient revealed a heterozygous mutation involving 2 different genes, namely, CYP7A1 and SLC10A1 genes. The CYP7A1 gene encodes for the enzyme cholesterol 7α-hydroxylase, which is a rate-limiting enzyme in the cholesterol degradation. The SLC10A1 Na+/taurocholate cotransporter gene is involved in the enterohepatic circulation of bile acids and for the hepatocyte uptake of cholesterol. We are the first to report an unusual case of an adult-onset CTX manifesting with eyelid xanthomas associated with an uncharacteristic lipid profile and a detection of novel heterozygous mutations of CYP7A1 and SLC10A1 genes in this neurocutaneous syndrome.

Treatment of Acne Vulgaris With Salicylic Acid Chemical Peel and Pulsed Dye Laser: A Split Face, Rater-Blinded, Randomized Controlled Trial.

INTRODUCTION: Pulsed dye laser (PDL) has been used to treat acne lesions and scar erythema by interrupting superficial vasculature. Salicylic acid chemical peels are employed chiefly due to their lipophilic, comedolytic, and anti-inflammatory properties. Although studies have looked at peels and laser therapy independently in acne management, we examined these treatments in combination. Our primary objective was to evaluate the safety and efficacy of concurrent use of salicylic acid peels with PDL versus salicylic acid peels alone in the treatment of moderate to severe acne vulgaris. METHODS: Adult patients with moderate to severe acne were included. Subjects received a total of 3 treatments at 3-week intervals. Per randomized split-face treatment, at week 0, one half of the subject's face was treated with PDL (595 nm) followed by whole face application of a 30% salicylic acid peel. At weeks 3 and 6, the treatments were repeated. At 0 and 9 weeks, patients were assessed with the Global Evaluation Acne (GEA) scale and Dermatology Life Quality Index (DLQI) questionnaire. RESULTS: Nineteen subjects were enrolled, and 18 completed the study. Significant improvement in acne was seen in both the combined (laser and peel) and chemical peel alone treatment arms (P < .0005 and P = .001). Using the GEA scale score, compared to week 0, the mean difference in acne improvement at week 9 was -1.61 in the combination therapy group versus -1.11 in the peel only group. Based on the GEA scale scoring, a statistically significant greater difference in acne improvement was seen, from week 0 to week 9, in the combination treatment group compared with the peel only group (P = .003). CONCLUSION: While acne subjects had significant benefit from the salicylic acid peel alone, they experienced greater significant benefit from PDL treatment used in conjunction with salicylic acid peels. The adjunctive utilization of PDL to salicylic acid peel therapy can lead to better outcomes in acne management.

Use of a brief educational video administered by a portable video device to improve skin cancer knowledge in the outpatient transplant population.

BACKGROUND: The considerably high risk of skin cancer development among transplant recipients warrants effective and efficient patient education on sun-protective behaviors. OBJECTIVE: To evaluate the effectiveness and patient satisfaction of a brief educational video on skin cancer risks and sun-protective behaviors in the transplant population during a routine posttransplant follow-up visit, as compared with an educational handout. MATERIALS AND METHODS: One hundred posttransplant patients were randomized to receive either video or pamphlet education about skin cancer. The primary outcome measure was knowledge acquisition, which was assessed using a 10-criterion grading instrument before and after the assigned educational intervention. The secondary outcome measure was patient satisfaction with the particular educational intervention received. RESULTS: Comparison between the 2 treatment groups demonstrated that the video group had significantly greater improvement in knowledge scores (3.96 ± 1.69) as compared with the pamphlet group (1.76 ± 1.42, p < .01). Moreover, subjects in the video group rated the educational material as more useful and appealing than did subjects in the pamphlet group. CONCLUSION: These findings suggest an inherent appeal for audio-visual presentation and point its potential to improve patients' knowledge of their increased risk of skin cancer and preventive skin cancer measures.