caa a22 4500 465773133 CHVBK 20180323111934.0 cr unu---uuuuu 170327e19900901xx s 000 0 eng 10.1007/BF00372085 doi (NATIONALLICENCE)springer-10.1007/BF00372085 Hereditary palmoplantar keratosis of the Gamborg Nielsen type [Elektronische Daten] Clinical and ultrastructural characteristics of a new type of autosomal recessive palmoplantar keratosis [I. Kastl, I. Anton-Lamprecht, P. Gamborg Nielsen] Summary: A new kind of diffuse palmoplantar keratoderma with autosomal recessive inheritance and without associated symptoms was described in Norrbotten, Sweden by Gamborg Nielsen in 1985. Clinically, it ranges between the less severe dominant Unna-Thost type and the more severe recessive Meleda type, as it is milder than the latter. Skin biopsies of five patients from three different families with this new palmoplantar keratoderma, as well as five obligatory heterozygotes from one family, were investigated ultrastructurally in order to characterize this new entity and to differentiate it from the Meleda type. Several features are common to both autosomal recessive palmoplantar keratoses. They show a broadened granular layer, a transit region consisting of cells with a marginal envelope, and considerable hyperkeratosis. Morphologically, this transformation delay is less pronounced in the Gamborg Nielsen type than in the classical Meleda type. As is typical for ridged skin, both types of palmoplantar keratoses possess composite keratohyaline granules. In contrast to the normal appearance of keratohyaline granules in the Meleda type, the Gamborg Nielsen type also shows qualitative deviations of keratohyaline granules with different degrees of spongiosity and electron density and sometimes with a granular border. It seems that abnormal keratohyaline proteins are synthesized that behave differently. The sudden transformation of a granular into a horny cell is physiologically regulated by different enzymes. A delay in this process may be caused by a mutation that reduces or alters the enzymes concerned. We assume the palmoplantar keratoderma of the Gamborg Nielsen type to be a variant of the heterogeneous group of the Meleda type of palmoplantar keratoderma with autosomal recessive inheritance. Springer-Verlag, 1990 Autosomal recessive palmoplantar keratosis nationallicence Electron microscopy nationallicence Keratinization nationallicence Keratohyalin nationallicence Keratohyaline proteins nationallicence Kastl I. Institute for Ultrastructure Research of the Skin, Department of Dermatology, Ruprecht-Karls-UniversitÄt Heidelberg, D-6900, Heidelberg, Germany aut Anton-Lamprecht I. Institute for Ultrastructure Research of the Skin, Department of Dermatology, Ruprecht-Karls-UniversitÄt Heidelberg, D-6900, Heidelberg, Germany aut Gamborg Nielsen P. Department of Dermatology, Varberg Hospital, Varberg, Sweden aut Archives of Dermatological Research Springer-Verlag 282/6(1990-09-01), 363-370 0340-3696 282:6<363 1990 282 403 https://doi.org/10.1007/BF00372085 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00372085 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Kastl I. Institute for Ultrastructure Research of the Skin, Department of Dermatology, Ruprecht-Karls-UniversitÄt Heidelberg, D-6900, Heidelberg, Germany aut NATIONALLICENCE 700 1- Anton-Lamprecht I. Institute for Ultrastructure Research of the Skin, Department of Dermatology, Ruprecht-Karls-UniversitÄt Heidelberg, D-6900, Heidelberg, Germany aut NATIONALLICENCE 700 1- Gamborg Nielsen P. Department of Dermatology, Varberg Hospital, Varberg, Sweden aut NATIONALLICENCE 773 0- Archives of Dermatological Research Springer-Verlag 282/6(1990-09-01), 363-370 0340-3696 282:6<363 1990 282 403 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer