Involvement of the skin in late infantile and juvenile amaurotic idiocies (neuronal ceroid-lipofuscinoses).
Skin biopsies have been performed in five cases belonging to the group of neuronal ceroid-lipofuscinoses (two cases of late infantile amaurotic idiocy with curvilinear cytosomes and three cases of juvenile amaurotic idiocy) and in twelve controls. In the late infantile amaurotic idiocy, cytosomes with curvilinear profiles were easily discovered in the epithelial cells and in the various skin appendages. A clinical diagnosis can therefore be readily supported by an innocuous and repeatable procedure. In juvenile amaurotic idiocy, pleiomorphic cytosomes with prevalent curvilinear profiles can be found in the skin appendages; they are smaller, less abundant and a more careful search is necessary to discover them.
D001065:Appendix / Q000473:pathology; D001706:Biopsy; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D046508:Culture Techniques; D003593:Cytoplasm; D005347:Fibroblasts / Q000473:pathology; D006801:Humans; D007223:Infant; D008064:Lipidoses / Q000175:diagnosis / Q000473:pathology*; D012867:Skin / Q000473:pathology*