RESUMO
Incontinentia pigmenti is an X- linked dominant condition characterized by cutaneous lesions associated with developmental defects of the eye, skeletal system and central nervous system. We report a case of incontinentia pigmenti in a 30 day old female infant who presented to us with skin eruptions over bilateral upper limbs, lower limbs and trunk since birth. She had linear verrucous plaques and vesicles distributed along the Blaschko's lines in addition to macular hyperpigmentation in a linear and whorled pattern involving the concerned areas. On ophthalmological examination, proliferative retinopathy in the right eye was noted.
Assuntos
Incontinência Pigmentar/diagnóstico , Pele/patologia , Vitreorretinopatia Proliferativa/complicações , Biópsia , Diagnóstico Diferencial , Feminino , Angiofluoresceinografia , Fundo de Olho , Humanos , Incontinência Pigmentar/complicações , Recém-Nascido , Vitreorretinopatia Proliferativa/diagnósticoRESUMO
Unusual facial cleft in Fryns syndrome: defect of stomodeum?: We report on a fetus with Fryns syndrome. The facial cleft was unusual. There was bilateral cleft lip with cleft palate. The intermaxillary segment was connected through the base of a mound in the midline to the lower lip. We believe this is an atypical facial cleft in Fryns syndrome and likely represents a defective stomodeum.