Juvenilná hyalínová fibromatóza je zriedkavé autozomálne recesívne dědičné ochorenie charakterizované prítomnosťou nodulov a tumorov v koži a mákkých tkanivách i gingiválnych hyperplázií. Autoři ho popísali u dospělého 28-ročného muža na základe histopatologickej diagnózy. Pacient bol počas života tri rázy hospitalizovaný. Diagnostikovaná artrogrypóza. Pri poslednej hospitalizaci!, kde bol pryatý pre sekundámu impetiginizáciu rozsiahlych ploch koze na končatinách a pachydermiu, bol zistený polymalformačný syndrom, mnohočetné tumory podkožia, gingiválna hypertofia, kontraktúry, osteolytické lézie a pozitivna rodinná anamnéza. Histologicky tumoriformné lézie obsahovali hyalínovú bezštruktúmu matrix často s chondroidnou až osteoidnou metapláziou, přítomné kalciové soli. V matrix holi zanořené viae či menej početné buňky fibroblastoidného vzhl'adu s eozinofílnou cytoplazmou, oválným jadrom a často pericytoplazmatickým haló. Elektrónmikroskopickým vyšetřením sa dokázali dilatovi )vané cisterny hrubého endoplazmatického retikula a hypertrofický Golgiho aparát. Ojediněle holi detekované partikuly denzitou zodpoved^úce kalciovým soliam. Imunohistochemicky tumorózne buňky exprimovali vimentin, alfa-1-antichymotiypsín a alfa-1-antitrypsín. Získané poznatky zodpovedsgu v písomníctve známým nálezom. Imunohistochemicky obraz sa v dostupnej literature neuvádza.
Juvenile hyaline fibromatosis is a rare autosomal recessive interstitial disease characterized by nodes and tumours of skin and soft tissues as well as by gingival hyperplasia. The authors described a case of 28-year-old male based on histopathological diagnosis. The patient was admitted to the hospital thrice in his life with the diagnosis of arthrogryphosis. Last time he presented with extensive secondary impetigo in extremities and pachydermia, polymalformation syndrom, multiple subcutaneous tumours, gingival hypertrophy, contractures, osteolytic lesions and positive family history. In histology, tumoriform lesions showed a structureless hyaline matrix often with chondroosseous metaplasia and calcium salts. More or less numerous cells in the matrix had a fíbroblastoid appearance with eosinophilic cytoplasm, oval nuclei and frequently pericytoplasmic halo. Electron microscopy revealed dilated cisterns of rough endoplasmic reticulum and a hypertrophied Golgi apparatus. Particles representing calcium salts according to their density were rare. Immunohistochemistry of tumour ceUs showed vimentin, alfa-l-antichymotrypsin and alfa-1-antitrypsin. The findings concurred with the literature in which, nevertheless, the immunohistochemical picture were not mentioned.
- MeSH
- Desmoid Tumors anatomy & histology pathology MeSH
- Adult MeSH
- Microscopy, Electron methods MeSH
- Genetic Diseases, Inborn MeSH
- Immunohistochemistry methods MeSH
- Humans MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Male MeSH
- Publication type
- Case Reports MeSH
- MeSH
- Cells pathology ultrastructure MeSH
- Chondrocytes cytology pathology ultrastructure MeSH
- Microscopy, Electron * methods utilization MeSH
- Homeostasis physiology immunology MeSH
- Cartilage, Articular * pathology ultrastructure injuries MeSH
- Knee Joint * pathology ultrastructure MeSH
- Humans MeSH
- Lysosomes pathology ultrastructure MeSH
- Necrosis etiology metabolism pathology MeSH
- Tissues pathology ultrastructure injuries MeSH
- Check Tag
- Humans MeSH
8 sv.
- MeSH
- Food Analysis MeSH
- Food Microbiology MeSH
- Publication type
- Periodical MeSH
- Conspectus
- Potravinářský průmysl
- NML Fields
- nutriční terapie, dietoterapie a výživa
- zemědělství a potravinářství
- technika
Considerable amount of research has been focused on dentin mineralization, odontoblast differentiation, and their application in dental tissue engineering. However, very little is known about the differential role of functionally and spatially distinct types of dental epithelium during odontoblast development. Here we show morphological and functional differences in dentin located in the crown and roots of mouse molar and analogous parts of continuously growing incisors. Using a reporter (DSPP-cerulean/DMP1-cherry) mouse strain and mice with ectopic enamel (Spry2+/- ;Spry4-/- ), we show that the different microstructure of dentin is initiated in the very beginning of dentin matrix production and is maintained throughout the whole duration of dentin growth. This phenomenon is regulated by the different inductive role of the adjacent epithelium. Thus, based on the type of interacting epithelium, we introduce more generalized terms for two distinct types of dentins: cementum versus enamel-facing dentin. In the odontoblasts, which produce enamel-facing dentin, we identified uniquely expressed genes (Dkk1, Wisp1, and Sall1) that were either absent or downregulated in odontoblasts, which form cementum-facing dentin. This suggests the potential role of Wnt signalling on the dentin structure patterning. Finally, we show the distribution of calcium and magnesium composition in the two developmentally different types of dentins by utilizing spatial element composition analysis (LIBS). Therefore, variations in dentin inner structure and element composition are the outcome of different developmental history initiated from the very beginning of tooth development. Taken together, our results elucidate the different effects of dental epithelium, during crown and root formation on adjacent odontoblasts and the possible role of Wnt signalling which together results in formation of dentin of different quality. © 2021 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).
- MeSH
- Cell Differentiation MeSH
- Dentin * MeSH
- Epithelium MeSH
- Extracellular Matrix Proteins genetics MeSH
- Mice MeSH
- Odontoblasts * MeSH
- Odontogenesis MeSH
- Incisor MeSH
- Animals MeSH
- Check Tag
- Mice MeSH
- Animals MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
Ceramide (Cer) release from glucosylceramides (GlcCer) is critical for the formation of the skin permeability barrier. Changes in β-glucocerebrosidase (GlcCer'ase) activity lead to diminished Cer, GlcCer accumulation and structural defects in SC lipid lamellae; however, the molecular basis for this impairment is not clear. We investigated impaired GlcCer-to-Cer processing in human Cer membranes to determine the physicochemical properties responsible for the barrier defects. Minor impairment (5-25%) of the Cer generation from GlcCer decreased the permeability of the model membrane to four markers and altered the membrane microstructure (studied by X-ray powder diffraction and infrared spectroscopy), in agreement with the effects of topical GlcCer in human skin. At these concentrations, the accumulation of GlcCer was a stronger contributor to this disturbance than the lack of human Cer. However, replacement of 50-100% human Cer by GlcCer led to the formation of a new lamellar phase and the maintenance of a rather good barrier to the four studied permeability markers. These findings suggest that the major cause of the impaired water permeability barrier in complete GlcCer'ase deficiency is not the accumulation of free GlcCer but other factors, possibly the retention of GlcCer bound in the corneocyte lipid envelope.
- MeSH
- Administration, Topical MeSH
- Ceramides metabolism MeSH
- X-Ray Diffraction MeSH
- Electric Impedance MeSH
- Glucosylceramides administration & dosage metabolism pharmacology MeSH
- Indomethacin pharmacokinetics MeSH
- Skin chemistry drug effects metabolism MeSH
- Humans MeSH
- Membrane Lipids chemistry metabolism MeSH
- Cell Membrane Permeability * drug effects MeSH
- Permeability MeSH
- Spectroscopy, Fourier Transform Infrared MeSH
- Theophylline pharmacokinetics MeSH
- Check Tag
- Humans MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
