Facial Angiofibromas In Tuberous Sclerosis Research Articles

Topical sirolimus in dermatology: a systematic review.

Topical sirolimus is increasingly utilised off-license to manage various dermatological conditions whilst avoiding typical adverse effects associated with systemic sirolimus. However, widespread use is limited by a highly heterogeneous evidence base of mixed quality. to evaluate the current evidence base for the indications, efficacy and safety profile for topical sirolimus in dermatology. A literature search was conducted from 2005 to July 4th, 2023, of English language studies, with the following databases consulted: MEDLINE, PubMed, Embase, CENTRAL and EBSCO. Key words included 'topical', 'rapamycin', 'sirolimus' and 'dermatology'. Data on drug efficacy, concentration, side effects, co-interventions and follow up were extracted. The search identified 202 studies; 71 studies met the inclusion criteria. Efficacy of topical sirolimus was demonstrated in facial angiofibromas (799 patients) compared to placebo across multiple randomised controlled trials with a predominant concentration of 0.1%. Evidence was mixed for sirolimus use in port-wine stains (61 patients), with evidence of effectiveness in combined sirolimus and pulsed-dye laser. Multiple case reports demonstrated clinical improvement with topical sirolimus use in cutaneous vascular abnormalities (33 patients) at a higher concentration of 1%. Other applications of topical sirolimus were predominantly case reports demonstrating generally favourable outcomes. Topical sirolimus was generally well tolerated - most reported adverse effects were localised irritation and pruritus. Ointment-based preparations and once-daily dosing appeared to confer a better side effect profile. Most high-quality data pertain to the efficacy of topical sirolimus in treating facial angiofibromas in tuberous sclerosis. Outcomes are generally promising in other indications and good tolerability, but data quality is mixed.

Optimization, Formulation, and Stability of Topical Rapamycin Used for Rare Tuberous Sclerosis Disease: from Ointment to Liposomes

IntroductionTopical rapamycin has been established as an effective and safe therapy for facial angiofibromas in tuberous sclerosis. Different formulations have been tested for this skin disease, most using an ointment as a vehicle.PurposeTo improve the classical formulation of topical rapamycin and to determine the validity period of the proposed options based on chemical, physical, and microbiological stability studies.MethodsFour different 0.4% rapamycin formulations were prepared (ointment, emulsion, gel, and liposomes). The stability studies for each formulation over 56 days were as follows: (1) chemical: extraction with different solvents and high-performance liquid chromatography assay; (2) physical: pH, uniformity, extensibility, absence of crystals, absence of phase separation, and only for liposomal formulation, particle size, zeta potential, and encapsulation efficiency were determined; and (3) microbiological: culture samples in blood-agar media.ResultsOnly liposomes were chemically, physically, and microbiologically stable after 8 weeks. Ointment, emulsion, and gel formulations lost their chemical or physical stability before 56 days.ConclusionsThe authors describe four new formulations to improve the previous treatment for facial angiofibromas in tuberous sclerosis. The liposome-based formulation was the most appropriate according to chemical, physical, and microbiological stability studies. However, it would be necessary to carry out clinical studies to ensure the effectiveness and safety of this formulation and also guarantee an improvement in the quality of life of patients.

Evaluating the Long-Term Outcome of the Ablative Lasers in the Treatment of Facial Angiofibromas in Tuberous Sclerosis: A TwoYear Follow-Up Study

Background: Tuberous sclerosis (TS), a genetic multisystem disorder, is characterized by widespread hamartomas in multiple organs. The classic clinical symptoms consist of angiofibromas, epilepsy, and developmental delay. Dermatological change is one of the major features. Bilateral facial angiofibromas (FA), a common form of presentation, cause significant cosmetic, medical, and emotional problems. The emerging treatment for skin lesions is laser therapy. However, there is no report on the long-term outcome of combined use of ultra-pulse carbon dioxide (UPCD) laser and ablative fractional (AF) Er: YAG lasers to treat skin lesions in patients suffering TS. Methods: A retrospective study, conducted from March 2014 to July 2018, investigated 9 patients from the Northwest part of China who had TS treated with a sequential treatment of UPCD laser and AF Er: YAG laser. Results: The sequential use of the UPCD and AF Er: YAG laser is a safe and effective method for the treatment of FA in patients suffering TS with satisfactory long-term outcomes. Conclusions: The sequential use of the UPCD and AF Er: YAG laser is a safe and effective method for the treatment of FA in patients suffering TS with satisfactory long-term outcomes.

Long-term stability of 0.1% rapamycin hydrophilic gel in the treatment of facial angiofibromas.

In recent years, various formulations containing rapamycin, mainly petrolatum-based, have been tested on facial angiofibromas in tuberous sclerosis. They are often poorly tolerated due to irritation and bleeding. In addition, their effectiveness was insufficient in young adults. The objective of this study was to develop and characterise a hydro-alcoholic gel containing solubilised rapamycin. The stability of the product stored at 4°C was evaluated over 1 year. Two different 0.1% rapamycin gels were formulated with or without α-tocopherol and urea. Different methods were used to characterise the gels: HPLC, gas chromatography, pH, visual observation and optical microscopy. A physico-chemical and microbiological stability study was also conducted for 1 year at 4°C. Gels were physically and microbiologically stable after 1 year at 4°C: organoleptic characteristics and pH unchanged, no significant decrease in rapamycin was observed, tocopherol droplet size was constant and rheological behaviour was not altered. This study describes a new gel formulation to improve skin penetration using various excipients to promote skin tolerance. This study provides, for the first time, detailed stability data for a hydro-alcoholic rapamycin gel.

Topical sirolimus with satisfactory response in facial angiofibromas of tuberous sclerosis—Two case reports

Topical sirolimus with satisfactory response in facial angiofibromas of tuberous sclerosis—Two case reports

Facial angiofibromas of tuberous sclerosis treated with topical sirolimus in an Indian patient.

Facial angiofibromas are the most visible and unsightly of all the cutaneous manifestations of tuberous sclerosis (TSC). A 17-year-old female, a known case of TSC, presented for the treatment of cosmetically disfiguring facial angiofibromas. She was started on twice daily application of 0.1% sirolimus ointment prepared from crushed tablets of sirolimus compounded in white soft paraffin. After 3 months of use, there was visible decrease in the erythema and the size of the angiofibromas. In an attempt to accelerate the response, the concentration was further increased to 1% sirolimus which was used for a month, resulting in a decrease not only in the size and redness but also in the number of the angiofibromas. The patient did not experience any cutaneous or systemic complications related to therapy. Sirolimus belongs to a novel class of anticancer drugs known as mTOR (mammalian target of Rapamycin) inhibitors. Sirolimus has been used as a targeted therapy for the renal and neurological manifestations of TSC. Topical preparation of sirolimus is not commercially available till date and hence preparations from crushed tablets or oral solution of sirolimus have been used with beneficial effects in treatment of angiofibromas especially in younger patients with flatter lesions. Randomized controlled trials are necessary to enable us to confirm the efficacy, long-term safety, the optimal dosage and possibility of reappearance once the drug is withdrawn. This is possibly the first case report of the use of topical sirolimus in India.

TREATMENT OF FACIAL ANGIOFIBROMAS OF TUBEROUS SCLEROSIS WİTH RADIOFREQUENCY DESSICATION AND COAGULATION

Tuberous sclerosis is an autosomal dominant neurocutaneous disorder with an incidence of approximately 7/100 000. Inheritance is autosomal dominant, but up to 70% of cases are new mutations. Tuberous sclerosis is mainly characterized by a triad of epilepsy, learning difficulties and skin lesions including angiofibromas, hypopigmented macules, connective tissue naevi and periungual fibromas. Angiofibromas are a common presentation of tuberous sclerosis. They cause considerable cosmetic and hygienic morbidity for patients. Treatments of angiofibromas have included curettage, cryosurgery, chemical peeling, dermabrasion, shave excision, lasers and 13-cis retinoic acid. Traditional methods of treating angiofibromas are not entirely successful as they frequently lead to scarring and pigmentary changes. We report the successful use of radiofrequency dessication and coagulation in treating multiple angiofibromas of four patients. The technique is easy to use and very cost effective. Key words: tuberous sclerosis, angiofibroma, ambulatory surgical procedures. Cite this article : Ulas Guvenc, Anil Gunsel Bahali, Umit Tursen, Tamer Irfan Kaya, Guliz Ikizoglu, Erdinc Terzi. Treatment of facial angiofibromas of tuberous sclerosis with radiofrequency dessication and coagulation. RoJCED 2017;3(4):182-185 https://doi.org/10.26574/rojced.2017.4.3.182

Dramatic Improvement of Facial Angiofibromas in Tuberous Sclerosis With Topical Rapamycin: Optimizing a Treatment Protocol

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue

New technique using combined pulsed dye laser and fractional resurfacing for treating facial angiofibromas in tuberous sclerosis

Tuberous sclerosis (TS) is a well-described genetic disorder that is classically associated with up to hundreds of facial angiofibromas. Due to the progressive nature of the skin lesions and the early clinical presentation, a safe and effective technique for treating these disfiguring skin lesions is needed. We report a combinatorial technique for treating the angiofibromas of TS. We present a case series of three TS patients treated with this technique combining pinpoint electrosurgery, pulsed-dye laser treatment, and ablative fractional resurfacing (AFR). In all presented cases, improvement in the number and appearance of facial angiofibromas and erythema is noted. No scarring or adverse events were reported. The technique of electrosurgery, pulsed-dye laser treatment, and AFR represents a new and safe therapeutic option for treating facial angiofibromas associated with TS.

Facial angiofibromas of tuberous sclerosis: successful treatment with podophyllin

Facial angiofibromas of tuberous sclerosis: successful treatment with podophyllin

Treatment of Facial Angiofibroma of Tuberous Sclerosis Using Cultured Epithelial Autografts

Treatment of facial angiofibroma of tuberous sclerosis is problematic, because the skin lesions involve entire dermis. Five patients aged from 14 to 33 (mean: 23.6) years old with angiofibroma of tuberous sclerosis were treated with cultured epithelial autografts between 1995 and 2004. The entire area of the facial lesions was excised using a razor to remove large nodules, and then the remaining lesions were further abraded to a rather deep layer of the dermis to smooth the skin and remove small nodules. Then a cultured autologous epithelium was grafted onto the wound. In all patients, epithelization was complete within 10 (mean: 9) days after the surgery. All patients were followed up for more than 6 months and showed neither depigmentation due to scar formation nor hypertrophic scars. In some patients, some pebbly regrowth had occurred at 5 years postoperatively, but the appearance was quite acceptable.

CO2, Er:YAG and Pulsed Dye Laser Treatment of Angiofibromas in Patients with Tuberous Sclerosis

Summary Background: Facial angiofibromas in tuberous sclerosis have been treated using various methods, without reproducible efficiency. Laser therapy could be a viable alternative. Objective: The purpose of this study was to evaluate the efficacy and side-effects of pulsed CO2 laser (10600 nm wavelength) or Erbium-YAG laser (2940 nm wavelength), and 595 nm wavelength pulsed dye laser in the treatment of facial angiofibromas. We attempted to make a comparison between these two treatments, and to perform a clinical assessment of pulsed CO2 laser or Erbium-YAG laser and pulsed dye laser treatment of angiofibromas. Methods: We treated 18 patients. We utilised a 595 nm wavelength pulsed dye laser, using a skin cooling system (Spray or Cryo), with a 7 mm spot size, energy density (fluence J/cm2) from 6 to 8 J/cm2, emission modality (repetition rate) at 0.5 Hz to 2, and a short pulse duration of 2 to 0.5 msec or Erbium-YAG laser (1000 mJ, 200 s); KTP 532 nm; Nd:YAG 1064 long pulse (300 J/cm2, 50 ms); and pulsed CO2 laser. Results: Nine patients with fibrous angiofibromas of the entire face were treated using pulsed CO2 laser (ultra or superpulsed). The patients treated showed remarkable cosmetic improvements, without scarring. Mild hyperpigmentation was observed in 2/9 patients, which disappeared within 6 months. Facial erythema persisted for about 2 months in 5/9 patients. The results on fibrous and protuberant angiofibromas were good, with an improvement of 51–75% of the lesions. Seven patients were satisfied after the first pulsed CO2 laser treatment, and only 2 required 1 further treatment at 6-month intervals (mean number of treatments: 1.22). Er:YAG laser was used for 4 patients, with 1 to 2 sessions at 2-month intervals, with good improvement on the fibrous component, and limited adverse effects (1 patient developed hypochromia). Vascular lasers were used for 11 patients. The pulsed Nd:YAG KTP (532 nm) (3 patients) and Nd:YAG-long pulse 1064 nm (1 patient) was used to times and always required the use of another type of laser. With the use of the Nd:YAG KTP (532 nm) a perinasally localised scar occurred. Conclusions: Laser therapy is indicated for angiofibromas in the first instance. Carbon dioxide laser is advocated as the preferable treatment for fibrous or protuberant angiofibromas, while pulsed dye laser is more successful for those with a vascular component. The CO2 laser, however, involves a risk of depigmentation or scarring, so that a combination of lasers may be required to achieve the best results.

Treatment of angiofibromas with a scanning carbon dioxide laser: A clinicopathologic study with long-term follow-up

Background: Facial angiofibromas in tuberous sclerosis have been managed with various treatment modalities, including carbon dioxide (CO2) laser resurfacing. Objective: Our purpose was to perform a long-term clinicopathologic assessment of CO2 laser treatment of angiofibromas. Methods: This was a retrospective case review of 10 patients treated with a scanning CO2 laser to flatten lesions. Baseline clinical photographs and those taken at 6, 12, and 24 months after the operation were assessed by a blinded observer. Patients also evaluated outcomes. Biopsy specimens taken immediately and at 4 months after the operation were reviewed. Results: Three groups of patients were identified: the first comprised 2 patients with sustained excellent and good outcomes. A second group (3 patients) had excellent outcomes in the early and medium term but then demonstrated partial deterioration. The last group (5 patients) had a range of early results with invariably poor outcomes at 24 months. In contrast, patients' self-assessment at 24 months was good or excellent in 8 of 10 cases. All biopsy specimens taken immediately after the procedure demonstrated ablation extending into the papillary dermis. Residual angiofibromas were present in 6 biopsy specimens. At 4 months, all biopsy specimens showed a band of superficial dermal fibrosis, but distinguishing between this and adjacent angiofibromas was often difficult. Long-term side effects included 2 cases of subtle hypopigmentation. Conclusion: The long-term results of CO2 laser treatment of angiofibromas are unpredictable. The marked improvement obtained at 6 months is sustained in only a minority of cases at 24 months. Despite this, patient satisfaction appears relatively high. Initial clinical improvement may be the result of a combination of destruction of angiofibromas and their sequestration under postoperative fibrosis. The benefits of therapy should be weighed against both early morbidity and the risks of long-term complications such as scarring and hypopigmentation. (J Am Acad Dermatol 2001;45:731-5.)