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Mibelli revisited: a case of type 2 segmental porokeratosis from 1893.
Journal of the American Academy of Dermatology 2010 January
In autosomal dominant skin disorders, a pronounced mosaic involvement may sometimes be found to be superimposed on the ordinary nonsegmental lesions. Such "type 2 segmental manifestation" reflects loss of heterozygosity occurring at an early developmental stage, giving rise to a cell clone that lacks the corresponding wild-type allele. Here, this genetic concept is applied to an unusual case of plaque-type porokeratosis of Mibelli (PM) as published in 1893 by Vittorio Mibelli in the International Atlas of Rare Skin Diseases. The right forearm and hand of the 21-year-old patient showed a pronounced linear porokeratosis that had developed since the age of 2 years. Moreover, nonsegmental lesions of PM involved both hands and forearms as well as the face and the neck, having first been noticed at the age of 7 years. Two siblings and the father were likewise affected with PM. Hence, Mibelli's case from 1893 meets all of the criteria of a type 2 segmental manifestation of an autosomal dominant skin disorder. Recognizing such cases of superimposed segmental involvement may help elucidate the molecular basis of PM.
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