We report six persons mosaic for a chromosome anomaly. All were mentally retarded and dysmorphic. Unilateral or asymmetrical features were found in all cases, in one an unusual transverse terminal limb anomaly, and in the others various degrees of hemiatrophy of the left side of the body. Five of the subjects had skin pigmentary anomalies which were distributed in the lines of Blaschko. The abn...

holelithiasis in neonates is usually pigmentary and composed of calcium bilirubinate.1,2 In children, cholelithisasis and inspissated bile or sludge are associated with prematurity, cystic fibrosis, hemolytic diseases, hemorrhage, congenital heart disease, starvation, total parenteral nutrition, infection, dehydration, ileal resection, abdominal surgery, congenital anomalies of the biliary trac...

A diploid/triploid karyotype is an uncommon but important cause of true hermaphroditism and ambiguous genitalia. Individuals have a recognisable phenotype and characteristic hydatidiform placental changes. We report a 46,XX/69,XXY chimeric hermaphrodite. This case highlights the typical features (large placenta, intrauterine growth retardation, asymmetric growth, cranio-facial anomalies, syndac...

Pigmentary mosaicism of the (hypomelanosis of) Ito type is an umbrella term, which includes phenotypes characterized by mosaic hypopigmentation in the form of streaks, whorls, patchy, or more bizarre skin configurations (running along the lines of Blaschko): these cutaneous patterns can manifest as an isolated skin disorder (pigmentary mosaicism of the Ito type) or as a complex malformation syn...

Case report: Congenital disfiguring malformations are rare and usually have a multifactorial aetiology. Here we report on the ocular manifestations seen in a patient with Proteus syndrome. The retina showed retinal dysgenesia, retinal pigmentary abnormalities and optic nerve hypoplasia. Other abnormalities included strabismus and high myopia. Discussion: Proteus syndrome is a complex hamartomat...

Dyspigmentation along the Blaschko lines is strongly suggestive of a mosaic skin disorder. We report a 9-year-old male patient who presented with swirls and streaks of both hypo and hyperpigmentation involving the entire body. Additionally, he had hypertrichosis, musculoskeletal and minor neurodevelopment abnormalities but no intellectual disability. Cultured fibroblast displayed trisomy 7 mosa...

Pigmentary demarcation lines are common, especially in individuals with darker skin types. Type B pigmentary demarcation lines (Futcher lines) involve the posterior lower extremities and can be associated with pregnancy, often with spontaneous resolution after delivery. The pathogenesis of pigmentary demarcation lines remains unknown; however, neurogenic inflammation and/or mosaicism are though...