Sergio Zuneda Serafini

A New ELOVL4 Mutation in a Case of Spinocerebellar Ataxia With Erythrokeratodermia.

A New ELOVL4 Mutation in a Case of Spinocerebellar Ataxia With Erythrokeratodermia Spinocerebellar ataxia with erythrokeratodermia (SCA34; OMIM 133190) is an autosomal dominant complex form of ataxia. This condition was first described in 1972 with the report of a French-Canadian family with multiple affected individuals.1 Four decades later, a segregating locus was identified through linkage analysis of 32 individuals from this family. Subsequent whole-exome sequencing of 3 individuals revealed a mutation in the elongation of very long-chain fatty acids–like 4 gene (ELOVL4) (NM_022726.3 c.504G>C); this mutation produced a defective protein (p.Leu168Phe).2 We report here the identification of a different ELOVL4 mutation in a single case who had signs consistent with SCA34. To our knowledge, our findings are the first to confirm ELOVL4 as the cause of SCA34.

Utility of dermoscopy for demarcation of surgical margins in Mohs micrographic surgery.

BACKGROUND Skin cancer is the most common malignancy and can be treated in various ways. One treatment modality is Mohs micrographic surgery. Due to the increasing incidence of skin cancer in the last decades, there is a need for improvement of the Mohs technique to optimize its effectiveness. OBJECTIVE The aim of this study was to evaluate the use of dermoscopy to guide demarcation of Mohs micrographic surgery margins and ascertain whether this method can reduce operative time and, therefore, reduce surgical morbidity and cost. METHODS AND MATERIALS The sample comprised 44 patients who underwent Mohs micrographic surgery, allocated into two groups: the control group and the intervention group. In the latter, surgical margins were guided by dermoscopy. RESULTS There were no statistically significant differences between the two groups by chi-square analysis (p = 0.399). CONCLUSION Although outcomes were similar in the two groups, demonstrating that dermoscopy does not help in the demarcation of surgical margins for Mohs micrographic surgery, the study provides a practical proposal for improvement of the Mohs technique.

Adenomatose erosiva do mamilo

Erosive adenomatosis of the nipple is a complex benign mammary proliferation that can be misdiagnosed as a malignant mammary neoplasm. The most common clinical presentation includes discharge, erythema, erosion and crusting. The process is usually asymptomatic. It resembles benign conditions such as contact dermatitis, psoriasis and infections, but its main differential diagnosis is Pagets disease. Treatment is usually surgical and the prognosis is excellent

Dermatose perfurante adquirida associada à insuficiência hepática em paciente transplantado de fígado

Acquired perforating dermatosis is characterized by transepithelial elimination of degenerated dermal substances. It occurs in many conditions, such as: diabetes mellitus, chronic renal failure and sclerosing cholangitis. This article describes a 17-year-old Caucasian female with type I glucogenosis and acquired perforating dermatosis due to chronic hepatic failure caused by hepatic complication of liver transplant.

Dyschromatosis symmetrica hereditaria of late onset

Dyschromatosis symmetrica hereditaria (DSH), also known as reticulated acropigmentation of Dohi, is an autosomal dominant disease with high penetrance, characterized by hypo- and hyperpigmented macules of varying sizes on the dorsal of the extremities with reticulated pattern. This paper presents a female patient with typical dermatological lesions, but only diagnosed in adulthood. It is necessary to perform differential diagnosis with other pigmentary disorders. This entity is not very common in South America, and the vast majority of cases were described in Japanese population. Since it is a benign disease, it is important to be aware of this diagnosis in order to establish the correct conduct for these patients.

Lipoidoproteinose: relato de dois casos

Lipoid proteinosis (Urbach-Wiethe disease) is a rare disorder with autosomal recessive inheritance, characterized by progressive deposition of hyaline substance in the skin, mucous membranes and internal organs. Clinically, there are papular and nodular lesions on the face, with areas of infiltration in the elbows, knees and hands; the tongue is firm and hoarseness may be present at birth. We describe two cases of this disease in the same family (brother and sister).