RESUMO
Hypohidrotic ectodermal dysplasia (HED) is a syndrome characterized by hypodontia, hypotrichosis, and partial or total ecrine sweat gland deficiency. The most prevalent form of HED is inherited as an X linked pattern. Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is an X-linked recessive disease, which leads to hemolytic anemia and jaundice. It is expressed in males, while heterozygous females are usually clinically normal. A 12-year-old boy with the complaints of hair and eyebrow disturbances, teeth disfigurement, decreased sweating, and xerosis presented to the outpatient clinic. Dermatological examination revealed sparse hair and eyebrows, conical-shaped teeth, xerosis, syndactylia, transverse grooves, and discoloration of nails. Laboratory findings indicated anemia. His 3-year-old sister also had sparse hair and eyebrows, xerosis, and syndactylia. We learned that the patient had a previous history of neonatal jaundice and a diagnosis of G-6-PD deficiency. Although it has been shown that loci of ectodermal dysplasia and G-6-PD deficiency genes are near to one another, we did not find any case study reporting on occurrence of these two genetic diseases together. With the aspect of this rare and interesting case, the relationship between HED and G-6-PD deficiency was defined.
RESUMO
Sorafenib is a new therapeutic agent being used in metastatic renal cell carcinoma, hepatocellular carcinoma, and malignant melanoma. The most frequently seen cutaneous side effects due to sorafenib are erythema, exfoliative dermatitis, acne vulgaris, and flushing. Folliculitis, eczema, and erythema multiforme are other, rare side effects of sorafenib. A 59-year-old man underwent left radical nephrectomy due to renal cell carcinoma 8 months ago, and after the operation he received immunochemotherapy and then sorafenib. On the third day of sorafenib therapy his lesions occurred. His dermatologic examination revealed multiple erythematous papules on his neck, arms, and legs and bullae and iris lesions on his palms and soles. He was diagnosed as having erythema multiforme. In the literature we found only 1 other erythema multiforme case due to sorafenib. We present this interesting case to show and discuss cutaneous side effects of sorafenib, especially erythema multiforme as a very rare cutaneous side effect.