RESUMO
Cutaneous mastocytosis appears to occur sporadically; however, familial inheritance has been reported in 50 families since the mid-1880s. We report four cases of telangiectasia macularis eruptiva perstans (TMEP) occurring in three generations of a family. Whereas most patients with TMEP manifest in adulthood, all of the members of this family developed initial lesions during childhood. This is the third documented instance of familial mastocytosis affecting members of three generations, and the first report of familial TMEP. Although the inheritance pattern is unknown, the presentation of disease in this family further supports the hypothesis of an autosomal dominant mode of transmission with incomplete penetrance.
Assuntos
Mastocitose/diagnóstico , Mastocitose/genética , Pele/patologia , Telangiectasia/diagnóstico , Telangiectasia/genética , Adulto , Biópsia por Agulha , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Linhagem , PrognósticoRESUMO
Apocrine chromhidrosis is a rare disease frequently localized to the face or axillae, and rarely has been reported to occur around the breasts. We report a 15-year-old amateur figure skater who displayed localized chromhidrosis around her areolae. The most common precipitating event was exercise. She was treated topically with capsaicin cream 0.025% with a subsequent decrease in symptomatology.
Assuntos
Glândulas Apócrinas/metabolismo , Mama , Sudorese , Adolescente , Feminino , Humanos , Lipofuscina/metabolismoAssuntos
Dermatologia , Dermatopatias , Criança , Humanos , Dermatopatias/diagnóstico , Dermatopatias/terapiaRESUMO
Retinoids are being used increasingly in dermatologic practice. Fetal malformation is a major form of toxicity associated with certain retinoids. In this study, the developmental toxicity of isotretinoin, its metabolites, and a structurally related analog, tretinoin, were evaluated using the sea urchin model. The American sea urchin, Arbacia punctulata, completes its major developmental stages within 24 hr and has been previously utilized for screening human teratogens. The parent compound, isotretinoin, induced dose-dependent delayed rather than dysmorphic development of the sea urchin embryo. In contrast, its metabolites, 4-oxo-isotretinoin and 4-oxo-tretinoin, and the analog tretinoin induced strikingly dysmorphic development. This may indicate that the metabolites of isotretinoin, rather than the parent compound, may be responsible for the fetal abnormalities observed in the "isotretinoin teratogen syndrome." Therefore, the sea urchin model might serve as a discriminating and rapid screening test for identifying other potential developmentally toxic retinoids.