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Focal dermal hypoplasia (Goltz syndrome) is a rare multisystem condition with characteristic cutaneous and facial manifestations, dental, skeletal, opthalmologic and urinary abnormalities.In this report, we present a twenty year-old woman with a variety of cutaneous defects, right-sided phytosis bulbi and ectropion, left-sided coloboma, protruding ears and thinning of the earlobes, early loss of teeth,...
Kindler syndrome is a rare chronic blistering disorder in which trauma induced blisters occur in early infancy and the tendency of blistering decreases with age.The blisters are primarily acral. Poikilodermatous skin changes are usually evident by age 5 and persist throughout life. Diffuse cutaneous atrophy is the other usual feature of this syndrome. Other less constant findings of this syndrome...
The term Proteus syndrome was first used in 1983 to describe a disorder of skeletal hamartomatous and other mesodermal malformations. Major clinical findings, defined as those findings seen in more than half of the cases, include hemihypertrophy, macrodactyly, exostoses, epidermal nevi, characteristic cerebriform masses involving the plantar or palmar surfaces, a variety of subcutaneous masses...
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