João Carlos Macedo Fonseca

Tinea granulomatosa de Majocchi

We report the case of a man of 45 with superficial dermatophytosis longtime inadvertently treated with antibiotics and corticosteroids with subsequent progression to the deep form, known as granuloma Majocchi. Treatment with orally terbinafine was successful

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.

SLC40A1 and CP single nucleotide polymorphisms in porphyria cutanea tarda patients of mixed ancestry

Porphyria cutanea tarda (PCT) is a multifactorial disease; clinical expression depends on both genetic and acquired factors. Few studies have examined the connection between PCT and the regulation of iron metabolism genes other than the HFE gene. We selected five polymorphisms in the CYBRD1, CP, SLC40A1, and HAMP genes to determine whether these polymorphisms can act as genetic modulators in patients with sporadic PCT. None of the 29 patients carried the C282Y mutation.

Genetic ancestry of patients with porphyria cutanea tarda in a country with mixed races: a cross-sectional study (Rio de Janeiro - Brazil)

Porphyria cutanea tarda has a complex etiology with genetic factors not completely elucidated. The miscegenation of the Brazilian population has important implications in the predisposition to diseases. There are no studies concerning the genetic ancestry of patients with porphyria cutanea tarda from a mixed population. Thirty patients living in Rio de Janeiro with sporadic porphyria cutanea tarda were studied for the genetic ancestry through informative markers - INDELS. There was a significant predominance of European ancestry across the sample of patients with porphyria cutanea tarda (70.2%), and a small contribution of African and Amerindian ancestry, 20.1% and 10.9%, respectively.Porphyria cutanea tarda has a complex etiology with genetic factors not completely elucidated. The miscegenation of the Brazilian population has important implications in the predisposition to diseases. There are no studies concerning the genetic ancestry of patients with porphyria cutanea tarda from a mixed population. Thirty patients living in Rio de Janeiro with sporadic porphyria cutanea tarda were studied for the genetic ancestry through informative markers - INDELS. There was a significant predominance of European ancestry across the sample of patients with porphyria cutanea tarda (70.2%), and a small contribution of African and Amerindian ancestry, 20.1% and 10.9%, respectively.

Dermachemabrasion: a safe and effective treatment for rhinophyma

Introduction: Rhinophyma is the final stage of rosacea. It leads to the stigmatization of the patient. Objective: To establish the safety and efficacy of dermachemabrasion in the treatment of rhinophyma. Methods: The method, which consists of tangential excision and dermabrasion with sandpaper followed by 30% trichloroacetic acid on the previously sanded area, was prospectively applied in 7 patients. The excised material was histologically studied aiming at detecting hidden neoplasias. Safety and efficacy were evaluated clinically and through standardized photographic records. Results: The patients’ ages ranged from 57 to 68 years (6 men, 1 woman). The complete reepithelialization occurred within 7 to 14 days. The 7 patients progressed without infection, with satisfactory reepithelialization and results from the aesthetic point of view, with absence of dyschromias or scarring. The histological analysis revealed the presence of a hidden neoplasia (superficial basal cell carcinoma) in one case. Conclusion: Dermachemabrasion is a low cost, simple to execute and effective treatment that leads to excellent cosmetic results in addition to having the advantage of the possibility of histological analysis, which is extremely important, since there are reports of hidden malignancy in rhinophyma.