6 research outputs found
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis
Twenty-six families with keratinopathic ichthyoses (epidermolytic ichthyosis,
superficial epidermolytic ichthyosis or congenital reticular ichthyosiform
erythroderma) were studied. Epidermolytic ichthyosis is caused by mutations in
the genes KRT1 or KRT10, mutations in the gene KRT2 lead to superficial
epidermolytic ichthyosis, and congenital reticular ichthyosiform erythroderma
is caused by frameshift mutations in the genes KRT10 or KRT1, which lead to
the phenomenon of revertant mosaicism. In this study mutations were found in
KRT1, KRT2 and KRT10, including 7 mutations that are novel pathogenic
variants. Novel clinical features found in patients with congenital reticular
ichthyosiform erythroderma are described, such as mental retardation,
spasticity, facial dysmorphisms, symblepharon and malposition of the 4th toe
A Contemporary View on Felix Pinkus’ Concept of the Vitreous Membrane
Introduction: Felix Pinkus' concept of the vitreous membrane (VM) published in 1927 describes circular folds protruding into the outer root sheath (ORS), which, in his opinion, serve as interdigitations between the outer root sheath (ORS) and the VM. This concept currently seems to have fallen into oblivion.
Objective: To determine the origin and possible function of the VM in the proliferation and vascularization of the hair follicle (HF). Methods: Serial investigation of healthy skin probes with histological (hematoxylin & eosin and periodic acid-Schiff) and immunohistochemical examination (Ki67, CD56, CD8, and collagen IV) were performed.
Results: Morphological variations of the VM in various HFs such as protrusions and folds, the latter unilateral, bilateral or circular, some acute-angled, were found. Similarly, protrusions of the VM into the ORS were observed, that consisted of capillary tissue together with perifollicular tissue and VM mimicking minimal variants of the dermal papilla.
Conclusions: Pinkus' concept of the VM is revisited, reproduced and possible functions are proposed. Since these structures are found in a HF region with a high metabolic dynamism, they may be involved in differentiation or nutrition, or else be formed as a result of pressure arising from outgrowing hair shafts
Analyse der beruflichen Weiterbildung in ausgewaehlten Zweigen des Nahrungs- und Genussmittelgewerbes der neuen Laender
IAB-93-3120-00 AY 098 / FIZ - Fachinformationszzentrum Karlsruhe / TIB - Technische InformationsbibliothekSIGLEDEGerman