Successful Treatment of Schwartz-Jampel Syndrome with Botulinum Toxin Type A.

Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disorder characterized by typical facial dysmorphism, generalized muscle stiffness, joint contracture, and skeletal abnormalities. This condition is caused by mutations in the heparan sulfate proteoglycan 2 (HSPG2) gene, which encodes perlecan, a component of the basement membrane. The management of patients with SJS primarily aims to alleviate symptoms related to muscle stiffness. In this report, we describe a male patient with SJS type 1A. Trio whole-exome sequencing identified a pathogenic mutation (NM_001291860.1: c.10897C>T; p.Arg3633Ter) and variants of unknown significance (NM_001291860.2: c.413+10G>T). The patient experienced difficulty in opening his eyes and mouth, which significantly limited his daily activities. Botulinum toxin A injection was administered and demonstrated significant clinical improvement after the treatment.

A pilot study comparing the efficacy of autologous cultured fibroblast injections with hyaluronic acid fillers for treating nasolabial folds.

Autologous cultured fibroblast injections for soft tissue augmentation are a potential alternative to other filler materials. No studies have compared autologous fibroblast injections and hyaluronic acid (HA) fillers for treating nasolabial folds (NLFs). To compare the efficacies and safeties of autologous cultured fibroblast injections and HA fillers for treating NLFs. This prospective, evaluator-blinded, pilot study enrolled 60 Thai female adult patients diagnosed with moderate to severe NLFs. They were randomized to receive either 3 treatments of autologous fibroblasts at 2-week intervals or 1 treatment with HA fillers. The primary outcome was the clinical improvement of the NLFs graded by 2 blinded dermatologists immediately after injection and at 1-, 3-, 6-, and 12-month follow-ups. Objective measurement of the NLF volume was evaluated. Patient self-assessment scores, pain scores, and adverse reactions were recorded. Of the 60 patients, 55 (91.7%) completed the study protocol. The NLF volumes improved significantly in the autologous fibroblast group at all follow-ups relative to baseline (P = 0.000, 0.004, 0.000, 0.000, and 0.003). The patients in the autologous fibroblast group rated more noticeable NLF improvements than those in the HA filler group (3-month follow-up, 58.41% vs. 54.67%; 6-month follow-up, 52.50% vs. 46%; 12-month follow-up, 44.55% vs. 31.33%). No serious adverse reactions were recorded. Autologous fibroblast injections are safe and effective for treating NLFs. These injections also promise sustained growth of living cells, possibly leading to a greater persistence than shown by other fillers.

Efficacy of Noninvasive 1060-nm Diode Laser for Medial Knee Fat Reduction.

INTRODUCTION: Laser lipolysis is a rapidly growing noninvasive body-contouring treatment in Asians. There is increasing demand for leg contouring, especially in areas where unwanted fat deposits are prominent despite diet and exercise. Medial fat knees are one of the esthetic concerns of women today and can be a challenging problem in terms of treatment. There are few noninvasive options to remove fat from these areas. This study aims to evaluate the safety and efficacy of a 1060-nm diode laser for medial knee fat reduction. METHODS: Nineteen subjects with localized unwanted fat on the medial knees were enrolled into this study. All of them were treated with a single session of 1060-nm diode laser at a power setting of 1.0-1.4 W/cm2, depending on patient tolerance. Body weight, knee circumference at 3 cm above the medial epicondyle of the femur, and knee fat thickness measured by ultrasonography were recorded at baseline and 1, 3, and 6 months after treatment. Clinical photographs and ultrasound images were taken before and after treatment. Side effects were documented during follow-up visits. Subjects answered a satisfaction questionnaire at the completion of the study. RESULTS: All subjects were female, with mean age of 32.3 ± 5.3 years and body weight of 59.8 ± 11.6 kg. The average power setting was 1.3 ± 0.1 W/cm2 with pain score of 6.1 ± 1.0. Significant reduction in knee circumferences (p < 0.001) at 1-, 3-, and 6-month follow-up visits compared with baseline, and knee fat thickness measured by ultrasound in both axial and sagittal plane at 1 and 6 months after treatment (p = 0.036 and p < 0.001, respectively) were recorded. Side effects were mild and transient, including mild erythema and tenderness. CONCLUSION: The 1060-nm diode laser is effective and safe for knee circumference and medial knee fat layer thickness reduction. TRIAL REGISTRATION: ClinicalTrials.gov identifier, TCTR20220219002. Retrospectively registered on February 19, 2022.

Overall Prevalence and Prevalence Compared among Psoriasis Treatments of Onychomycosis in Patients with Nail Psoriasis and Fungal Involvement.

BACKGROUND: Whether nail psoriasis can increase the risk of onychomycosis is still being debated, and data relating to the prevalence of onychomycosis among psoriasis patients receiving different treatments is limited. OBJECTIVES: To investigate the overall prevalence and prevalence compared among psoriasis treatments of onychomycosis in patients with nail psoriasis and fungal involvement. METHODS: A prospective study of three groups of nail psoriasis being treated with only topical medication, methotrexate, or biologics (25 patients per group, 150 nails) was conducted at Siriraj Hospital (Bangkok, Thailand) during November 2018 to September 2020. Demographic data, psoriasis severity, and nail psoriasis severity were recorded. The nail most severely affected with psoriasis on each hand was selected for mycological testing. Potassium hydroxide, periodic acid-Schiff stain, and fungal culture were performed. RESULTS: The prevalence of onychomycosis in nail psoriasis was 35.3%. Among the treatment groups, the prevalence of onychomycosis was significantly higher in the methotrexate group than in the topical treatment and biologic treatment groups (p = 0.014). Candida spp. was the main causative organism, followed by Trichophyton rubrum. Thumb was most commonly affected (59.3%). The most common abnormality of the nail matrix and the nail bed was pitted nail (71.3%) and onycholysis (91.3%), respectively. Multivariate analysis revealed diabetes, wet-work exposure, and methotrexate treatment to be predictors of onychomycosis. CONCLUSIONS: Several factors, including psoriasis treatment, were shown to increase the risk of onychomycosis in nail psoriasis. Further research is needed to determine whether biologic agents, especially interleukin-17 inhibitors, can increase risk of onychomycosis and Candida infection/colonization of the nails.

Sulphur Nuggets.

BACKGROUND: Dermoscopy is a new method to diagnose and manage nail disorders. The definite dermoscopic finding for onychomycosis, however, is still debatable. OBJECTIVE: To identify the dermoscopic features that help differentiate between onychomycosis (OM) and traumatic onychodystrophy (TOD). METHODS: A prospective study of 65 patients with toenail abnormalities was conducted. The patients were classified into OM and TOD groups using mycological tests (potassium hydroxide test, fungal culture, and histological examination). OM was diagnosed from positive results for all tests, while TOD was decided based on negative results for all tests and evidence of foot trauma. Dermoscopic features were recorded and compared between the two groups. RESULTS: Most patients of the 65 patients were female (72.3%), and had a mean age of 67.9 years. Twenty-seven patients (41.5%) were diagnosed with OM, all of which were distal and lateral subungual onychomycosis. TOD, on the other hand, was determined in 38 patients. Dermoscopic findings revealed that the yellow, clumping, sulphur-nugget-like debris in the ruin appearance was significantly associated with onychomycosis (p = 0.002), while ruin appearance without sulphur nugget was not statistically correlated with onychomycosis (p = 0.068). CONCLUSION: The presence of sulphur nuggets in the ruin appearance is a new and helpful dermoscopic feature for onychomycosis diagnosis.

Association Between Secondary Botulinum Toxin A Treatment Failure in Cosmetic Indication and Anti-Complexing Protein Antibody Production.

INTRODUCTION: Botulinum toxin A (BoT/A) treatment failure (BTF) affects patients subjected to repeated BoT/A exposure for cosmetic indications. BoT/A's general formulation contains core BoT/A and complexing proteins. BTF may be caused by antibody-induced treatment failure. Antibodies against core BoT/A can occur; however, anti-complexing protein antibodies have never been demonstrated, and tools for anti-complexing protein antibody detection have not been developed. The aim of this study was to evaluate immune involvement in BoT/A-nonresponsive patients. METHODS: Patients suspected of nonresponsiveness to BoT/A for cosmetic indications were recruited. All volunteers were categorized as BoT/A-responsive or BoT/A-tolerant according to frontalis testing with onabotulinumtoxinA (onaA). Twenty-two BoT/A-tolerant volunteers were recruited separately for frontalis testing with incobotulinumtoxinA (incoA). Anti-BoT/A and anti-complexing protein antibodies were quantified by special ELISA using sera from blood sampled before and after frontalis testing. RESULTS: Significantly higher levels of IgG against complexing protein were detected in onaA-tolerant sera but not in onaA-responders, leading to proposals that anti-complexing protein antibodies could cause onaA unresponsiveness. Some onaA-tolerant patients according to frontalis test with incoA were responsive to incoA. Newly developed absorption ELISA confirmed that incoA-responsive sera predominantly contained IgG against complexing proteins, whereas incoA-tolerant sera contained significant levels of IgG against core BoT/A. The presence of anti-complexing protein antibodies higher than 90.75% in sera of onaA-tolerant patients could respond to incoA. The ELISA technique might be employed as a tool to predict incoA responsiveness. Our frontalis testing after incoA treatment showed that anti-incoA IgG levels were not increased by incoA. CONCLUSIONS: BoT/A-exposed patients may develop antibodies against core botulinum toxin and complexing proteins. Our study is the first to demonstrate that anti-complexing protein antibodies cause BTF. High levels of antibodies against complexing proteins can cause onaA unresponsiveness, although some patients were still incoA-responsive. Our developed ELISA to detect anti-complexing protein antibodies can determine whether onaA-tolerant patients respond to incoA without incoA frontalis testing.

Randomized controlled trial comparing long-pulsed 1064-Nm neodymium: Yttrium-aluminum-garnet laser alone, topical amorolfine nail lacquer alone, and a combination for nondermatophyte onychomycosis treatment.

BACKGROUND: Studies of the laser treatment of nondermatophyte mold (NDM) onychomycosis are limited. Long-pulsed neodymium:yttrium-aluminum-garnet (Nd:YAG) 1064-nm laser has been introduced as an adjuvant dermatophyte onychomycosis treatment. AIMS: To investigate the efficacy and safety of long-pulsed Nd:YAG 1064-nm laser for NDM onychomycosis treatment, compared with topical amorolfine nail lacquer alone and a combination treatment. PATIENTS/METHODS: This randomized controlled trial was conducted at the Nail Clinic, Siriraj Hospital. Patients diagnosed with NDM were included and randomly assigned to three treatment groups: laser at 1 month interval (1064-nm Nd:YAG at a fluence of 35 J/cm2 , pulse width 30 ms, and pulse rate 1.0 Hz); topical amorolfine nail lacquer alone; and a combination treatment. RESULTS: Sixty patients completed the study. The patients treated with the laser, amorolfine, and the combination achieved mycological cure rates of 35%, 60%, and 65%, respectively (P = .05), while 10%, 30%, and 30% of the patients in the respective groups were clinically cured. The mean durations to the mycological cures in the patients treated with laser, amorolfine, and the combination were 5.9, 4.8, and 5.2 months, respectively. By comparison, the corresponding mean durations to the clinical cures were 6.9, 6.5, and 5.9 months. Both the times to the mycological cures and the clinical cures did not differ significantly between the groups (P = .290 and P = .309, respectively). There were no serious complications with the laser treatment. CONCLUSIONS: Laser alone achieved only a 30% mycological cure rate for NDM onychomycosis. The combination treatment yielded similar outcomes to the topical treatment alone.

Acne treatment efficacy of intense pulsed light photodynamic therapy with topical licochalcone A, l-carnitine, and decanediol: A spilt-face, double-blind, randomized controlled trial.

BACKGROUND: Depending on disease severity, standard acne treatments can vary from topical to systemic therapy. However, poor compliance caused by adverse events and antibiotic resistance is a major cause of treatment failure. AIMS: To determine the effectiveness of photodynamic therapy (PDT) with intense pulsed light (IPL) in the treatment of acne when combined with a cream containing licochalcone A, L-carnitine and decanediol (so-called, 'active formulation') versus PDT alone. PATIENTS/METHODS: Twenty-nine volunteers, aged 21-39 years (26 women and 3 men, mean age 29.41 ± 5.24 years), with mild to severe facial acne, were enrolled. Each subject's face sides were randomized in a split-face manner to either receive PDT (IPL with a 400-720 nm cut-off filter, at 4 sessions with two-week intervals) combined with the active formulation cream twice daily for 10 weeks on one face side; or PDT and the vehicle cream on the other side, with the same treatment protocol. Reduction in acne quantity, melanin index and erythema index were assessed 2 weeks after the second treatment (day 28), 1 week after the fourth treatment (day 49), and 1 month after the fourth treatment (day 70). RESULTS: Compared to baseline, patients in the active formulation group demonstrated a faster onset of reduction in the number of lesions at 2 weeks after the second treatment (p=0.010 for inflammatory acne and p=0.001 for non-inflammatory acne). A significantly greater reduction in lesion count was observed in the active formulation group compared with the vehicle group at all timepoints of evaluation for noninflammatory acne (day 28, day 49, and day 70; p=0.003, 0.005 and 0.002 respectively), and at 1 month after the fourth treatment for inflammatory acne (p=0.036). Compared to the vehicle group, the melanin index of the active formulation group decreased significantly at 1 month after the fourth treatment (p=0.015). CONCLUSION: PDT is more effective in treating acne when combined with a topical cream containing licochalcone A, L-carnitine and decanediol, than PDT alone. Significant acne reduction and improvements in post-inflammatory hyperpigmentation were observed, which offers acne patients a better therapeutic option. It is a safe and effective combination treatment for patients with moderate and severe acne.