Tainá Scalfoni Fracaroli

Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal nevus

Verrucous epidermal nevi are congenital hamartomas composed of keratinocytes and may occur alone or in association with developmental abnormalities. A close relationship between variations in the PIK3CA and FGFR3 genes and the appearance of nevi has been recently reported. Based on that, we performed molecular assays for the identification of E542K, E545G/K and H1047R mutations in the PIK3CA gene and of the R248C mutation in the FGFR3 gene. Interestingly, during the amplification process, we did not observe the PCR product of exon 9 of the PIK3CA gene, a region comprising amino acids 542-545. This strongly suggests the occurrence of a microdeletion of that region and indicates a possible allelic variant, which has not yet being described in the literature.

Off-label use of rituximab in dermatology: pemphigus treatment

Since its approval in 1997 by the FDA (United States Food and Drug Administration), rituximab has been used for certain B-cell lymphomas and treatment-resistant rheumatoid arthritis. Nevertheless, over the past 14 years, many case reports have demonstrated the efficacy of off-label rituximab in several dermatological inflammatory conditions. This study describes two cases of pemphigus vulgaris and two cases of pemphigus foliaceous that were treated with rituximab at 375 mg/m2 once a week for 4 weeks, and that responded well to treatment.

Parallel ridge pattern on dermoscopy: observation in non-melanoma cases

The acral melanoma is the most prevalent type of melanoma in the non-Caucasian population, and dermoscopy is a useful tool for earlier diagnosis and differentiation from benign lesions. The dermoscopic pattern often associated with melanoma on the volar skin is the parallel ridge, with 99% specificity according to the literature. However, this pattern can also occur in several benign acral lesions, so it is important to make a good interpretation of this pattern, along with the clinical history and evolution.

Toxic epidermal necrolysis induced by lansoprazole

Toxic epidermal necrolysis is a rare, severe cutaneous reaction, mostly caused by drugs. It affects the skin and mucous membranes, with involvement of more than 30% of body surface. We describe the case of a young woman, previously healthy, who developed skin detachment of more than 90% of the body surface 15 days after being administered lansoprazole for peptic disease. The treatment consisted in discontinuation of the drug involved and early administration of intravenous human immunoglobulin, which led to a satisfactory outcome of the case, substantiating the impact of early diagnosis and treatment on the morbidity and mortality of these patients.

Lentigo maligna on the face: a challenging conduct

Lentigo maligna is a melanoma in situ, of slow radial growth, which affects sun-exposed areas, especially in the elderly. When it affects the eyelid, due to the proximity to a noble organ, the conduct is controversial, but surgery is the method most commonly used, with with margins varying according to the reference used. Conservative treatments are described, such as imiquimod 5% and radiotherapy. This report aims to demonstrate the lack of studies on the surgical margin, and to name nonsurgical treatment options for lentigo maligna of the face.