Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex.

Tuberous sclerosis complex (TSC) is a neurogenetic disorder due to loss-of-function TSC1 or TSC2 variants, characterized by tumors affecting multiple organs, including skin, brain, heart, lung, and kidney. Mosaicism for TSC1 or TSC2 variants occurs in 10%-15% of individuals diagnosed with TSC. Here, we report comprehensive characterization of TSC mosaicism by using massively parallel sequencing (MPS) of 330 TSC samples from a variety of tissues and fluids from a cohort of 95 individuals with mosaic TSC.

Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.

BackgroundTuberous sclerosis complex (TSC) is a neurogenetic syndrome due to loss-of-function mutations in TSC2 or TSC1, characterized by tumors at multiple body sites, including facial angiofibroma (FAF). Here, an ultrasensitive assessment of the extent and range of UV-induced mutations in TSC facial skin was performed.MethodsA multiplex high-sensitivity PCR assay (MHPA) was developed, enabling mutation detection at extremely low (<0.

Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex.

Tuberous sclerosis complex (TSC) is a genetic syndrome due to mutations in either or , leading to the development of hamartomatous tumours at multiple body sites, including facial skin (facial angiofibroma (FAF)), brain (cortical tubers) and kidney (angiomyolipoma (AML)). In this report, we describe an individual with minimal TSC clinical features, who had 'no mutation identified' (NMI) by prior genetic testing in a clinical laboratory. Our massively parallel sequencing (MPS) analysis of multiple samples from different body sites and tumours (including blood, saliva, normal skin, AML and FAF) revealed an extraordinary situation in which FAF and AML had completely independent inactivating biallelic variants in not present in other matched samples.

Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission.

Purpose: To examine the prevalence and spectrum of mosaic variant allele frequency (MVAF) in tuberous sclerosis complex (TSC) patients with low-level mosaicism and correlate genetic findings with clinical features and transmission risk.

Methods: Massively parallel sequencing was performed on 39 mosaic TSC patients with 170 different tissue samples.

Results: TSC mosaic patients (MVAF: 0-10%, median 1.

Efficacy, tolerability, and safety of a long-pulsed ruby laser system in the removal of unwanted hair.

Background: Unwanted hair growth is a common, usually physiologic phenomenon.

Objective: In this study the efficacy and tolerability of a long-pulsed ruby laser system was compared with needle electrolysis and hot wax on three parts of the body.

Methods: Thirty volunteers were treated three times on the forearm (n = 10), on the face (n = 10), or in the pubic area (n = 10) with 25 J/cm2 laser, 40 J/cm2 laser, needle electrolysis, and hot wax therapy.

Comparison of carbon dioxide laser, erbium:YAG laser, dermabrasion, and dermatome: a study of thermal damage, wound contraction, and wound healing in a live pig model: implications for skin resurfacing.

Background: Advances in laser technology allow for precise tissue removal and minimal thermal damage. However, mechanisms for cosmetic improvement have not been determined. Investigators have suggested that ablation, collagen shrinkage, and new collagen deposition all contribute to the clinical outcome.

A pilot study of in vivo immediate tissue contraction with CO2 skin laser resurfacing in a live farm pig.

Background: It has been suggested that tissue ablation, collagen shrinkage, and new collagen deposition contribute to the clinical outcome of laser skin resurfacing.

Objective: To study the effects of fluence and pass number on thermal damage and tissue shrinkage, we performed experiments in an in vivo farm pig model.

Methods: A CO2 laser was used to treat the flank skin of a farm pig.

Treatment of cutaneous lesions of xanthoma disseminatum with a CO2 laser.

We describe a case of a 15-year-old African American girl with widespread papulonodular lesions of xanthoma disseminatum especially in the periorbital area and on the flexural surfaces of the neck, axillae, arms, and legs. There were no mucosal lesions. An initial trial in the distant past of liquid nitrogen cryotherapy resulted in partial shrinking of cutaneous lesions but was too painful for the patient.

Complications of aesthetic laser surgery.

Aesthetic laser surgery is not risk free. It behooves the laser surgeon to become intimately familiar with the potential adverse effects of laser use to guard against and to minimize their occurrence. Moreover, patients must be thoroughly, clearly, and honestly educated about the procedure and its risks so that their expectations are realistic and so that any complications that do occur can be recognized early and treated appropriately.

Laser treatment of pigmented lesions in children.

A variety of lasers can be used to effectively treat cutaneous pigmentation in children. Furthermore, using the principle of selective photothermolysis, several pigment-specific lasers can be used to achieve significant clinical improvement if not complete removal of pigmented lesions with greatly reduced risks of scarring, textural or pigmentary changes. A summary of laser treatments for pigmented lesions that commonly present in children including café-au-lait macules, nevus of Ota and other dermal melanocytosis, congenital melanocytic nevus, nevus spilus, lentigines, epidermal nevus, Becker's nevus, and tattoos is presented.

Comparison of erbium:YAG and carbon dioxide lasers in resurfacing of facial rhytides.

Objective: To compare the efficacy, adverse effects, and histological findings of erbium:YAG (Er:YAG) and carbon dioxide (CO2) laser treatment in removing facial rhytides.

Design: An intervention study of 21 subjects with facial rhytides. All participants were followed up for 6 months.

Effects of overlap and pass number in CO2 laser skin resurfacing: a study of residual thermal damage, cell death, and wound healing.

Background: Newer CO2 laser systems incorporating short pulse and scanning technology have been used effectively to resurface the skin. As the number of resurfacing cases has increased, hypertrophic scarring has been reported more commonly. Previous dermabrasion and continuous wave CO2 studies have suggested that depth of injury and thermal damage are important predictors of scarring for a given anatomic region.

Treatment of benign and atypical nevi with the normal-mode ruby laser and the Q-switched ruby laser: clinical improvement but failure to completely eliminate nevomelanocytes.

Objective: To evaluate the effect of normal-mode and Q-switched ruby laser light (694 nm) on nevomelanocytes of benign, atypical, and congenital nevi.

Design: Half of the lesion of each of 31 nevi was treated with either the Q-switched ruby laser or the normal-mode ruby laser or both; the other half of the lesion was covered with aluminum foil and was not treated.

Setting: A university-affiliated, hospital-based laser center.

The effect of wiping on skin resurfacing in a pig model using a high energy pulsed CO2 laser system.

Background: The impact of wiping in laser skin resurfacing has not been systematically studied.

Methods: We examined the effects of wiping during single- and multiple-pass high energy pulsed CO2 laser skin resurfacing in a farm pig. Consequences of wiping were evaluated with regard to depth of residual thermal damage, tissue necrosis, and fibroplasia.

Comparison of the Q-switched alexandrite, Nd:YAG, and ruby lasers in treating blue-black tattoos.

Background: A new generation of highly selective short-pulsed lasers has emerged in recent years for the treatment of tattoos. Several studies (including reports by the present investigators) have proven the efficacy of each of the three commercially available, FDA approved devices; namely, the Q-switched alexandrite, Q-switched Nd:YAG and Q-switched ruby lasers. Considerable differences among the three have been reported in relation to the rate of clearing of the tattoo ink particles, tissue effects, beam profile, wound healing, and side effects.

Comparative clinical trial of 2 carbon dioxide resurfacing lasers with varying pulse durations. 100 microseconds vs 1 millisecond.

Objectives: To compare the clinical and histological effects of 2 carbon dioxide lasers with different pulse durations and to evaluate the effect of carbon dioxide laser pulse duration on postprocedure erythema, wound healing, and efficacy of wrinkle treatment.

Design: Prospective, randomized, comparative clinical trial.

Setting: A university-affiliated hospital-based laser center.

Concurrent use of laser skin resurfacing and punch excision in the treatment of facial acne scarring.

Background: Laser skin resurfacing has added to the numerous treatment options available for acne scarring. Adjunct modalities such as punch excision should be considered to enhance treatment outcomes. Traditionally, punch excision and grafting have been performed, followed 1-2 months later by dermabrasion.

Care before and after laser skin resurfacing. A survey and review of the literature.

Background: The extent of the wound healing period and the final outcome of cutaneous laser resurfacing are influenced not only by the treatment protocol and type of laser used but also on care of the skin before and after the procedure.

Objective: This project was conducted to determine the pre- and postresurfacing care protocols currently in practice and to research the literature in an effort to clarify which interventions can accelerate wound healing and improve efficacy of the treatment.

Methods: Three hundred thirty-nine questionnaires were mailed to all dermatology and plastic surgery members of the American Society for Laser Medicine and Surgery (ASLMS).

Long-term results after CO2 laser skin resurfacing: a comparison of scanned and pulsed systems.

Background: New laser technology permits the use of high-energy pulsed and continuous-wave carbon dioxide (CO2) lasers with flashscanners to treat rhytides.

Objective: We compared the efficacy and side effects of the two leading CO2 lasers used in skin resurfacing.

Methods: A total of 28 patients with facial rhytides were treated with either the UltraPulse or SilkTouch laser systems; in five additional patients, contralateral cosmetic units were treated with one system or the other in a direct comparison of the lasers.

Tunable dye laser neovessel ablation as an adjunct to the management of hypertrophic scarring in burned children: pilot trial to establish safety.

Hypertrophic scarring is a major source of morbidity in patients with burns. The physiologic characteristics are poorly understood, but increased neovascularity is typically seen in those wounds destined to become hypertrophic. We theorize that ablation of the developing neovasculature may favorably influence the development of the hypertrophic scar.

Pulsed laser treatment in children and the use of anesthesia.

Background: The rationale for choosing certain anesthetic options in children when they are being treated with pulsed lasers is unclear.

Objective: Our purpose was to assess the safety and side effects of general anesthesia in the treatment of vascular lesions and to compare this to treatment outcome in the office setting.

Methods: We carried out a retrospective chart review of 179 patients, with an age range of 5 weeks to 18 years, who received laser treatment and underwent different anesthetic modalities.

Laser hair transplantation.

A review of the present state of the art of laser hair transplantation highlights recommendations for treatment parameters and discusses the studies published in the literature. An evolving field, laser hair transplantation is maturing to find its place in the armentarium for hair restoration surgery.

Treatment of nevus spilus with the Q-switched ruby laser.

Background: Q-switched lasers have shown to be effective in the removal of unwanted cutaneous pigmentation. Benign cutaneous pigmented lesions represent a heterogeneous group. Nevus spilus is a relatively uncommon pigmented lesion characterized by dark, hyperpigmented dots scattered over a tan-colored macule.