RESUMO
The acral peeling skin syndrome (APSS) is a rare autosomal recessive disorder clinically characterized by asymptomatic desquamation of the skin limited to the hands and feet and histologically by cleavage at the stratum granulosum and stratum corneum level [Kiritsi et al.: J Invest Dermatol 2010;130:1741-1746]. We report on a 10-month-old boy with a history of skin peeling limited to the hands and feet since 2 months of age. Clinical examination revealed erythematous erosions with peripheral desquamation and flaccid blisters. DNA mutation analysis detected two heterozygous TGM5 mutations: c.2T>C, p.M1T in exon 1 and c.337G>T, p.G113C in exon 3 in keeping with the diagnosis of APSS. The clinical presentation of APSS alone might be confusing and strongly resemble epidermolysis bullosa simplex making the differential diagnosis difficult.
RESUMO
BACKGROUND: The practice of insertion of foreign bodies in the penis is well documented, but the clinical characteristics of penile foreign-body granuloma (FBG) and social motivation of the patients has not been studied in large groups. OBJECTIVE: The aim of this study was to evaluate the clinical and epidemiological profile of patients with penile insertion of foreign bodies and assess the significance of social motivation. METHODS: Twenty-five heterosexual male patients, who visited our clinic from 1990 to 2005, were retrospectively studied. All of them had implanted two different types of foreign bodies in their penis and had tattoos in the same area. Twenty-five male patients with genital tattoos served as clinical controls. RESULTS: The age of peak incidence of patients with penile FBG was 28 years. The youngest patient was 19 years. Twenty-three (23 of 25, 92%) of the patients were from gipsy origin, and two men were of Bulgarian origin. All the patients had risky social behaviour (prisoners and beggars). The motivation of 20 (20 of 25, 80%) of the patients was to enlarge the penile size. Fifteen (15 of 25, 60%) wanted to increase the feelings of the sexual partners. The majority of the patients (23 of 25, 92%) had injection of fatty substances, and 2 (2 of 25, 8%) had undergone implantation of a plastic pellet. In 14 cases (14 of 25, 56%), the insertion of mineral oil was complicated by formation of fistulas and wide ulcers with histological features of FBG. CONCLUSION: The reported cases represent an example of the detrimental effects of the insertion of foreign bodies in the penis. Immediate measurements should be performed to prevent severe outcomes.
