Lipoid Proteinosis

Lipoid Proteinosis (Urbach-Wiethe Disease)

“…In conclusion, our findings seem to demonstrate that the pathogenesis of the disease, rather than a result of vascular leakage [10]could be due to a systemic enzyme defect in glycoprotein synthesis, The specific localization of glycoproteins on the external surface of cell plasma membranes confirms their role in cell differentiation, intercellular recognition and tissue morphogenesis [23], i.e. cell-cell interaction, intercellular adhesion, cell-cell recognition and contact inhibition of cell growth.…”

“…Histologically, there are deposits of amorphous, extracellular eosinophilic hyaline material in the upper thickened connective tissue; in the lower part changes are focal with a hyaline mantle around the vessels [9]. Electron-microscopic studies demonstrated vascular leakage in these tissues and the pathogenesis of the disease has also been attributed to capillary incompetence [10]. Histochemical studies have revealed that the deposits are PAS positive and amylase resistant, indicating the presence of neutral mucopolysaccharides [11].…”

Lipoid Proteinosis (Urbach-Wiethe Disease)

“…In conclusion, our findings seem to demonstrate that the pathogenesis of the disease, rather than a result of vascular leakage [10]could be due to a systemic enzyme defect in glycoprotein synthesis, The specific localization of glycoproteins on the external surface of cell plasma membranes confirms their role in cell differentiation, intercellular recognition and tissue morphogenesis [23], i.e. cell-cell interaction, intercellular adhesion, cell-cell recognition and contact inhibition of cell growth.…”

“…Histologically, there are deposits of amorphous, extracellular eosinophilic hyaline material in the upper thickened connective tissue; in the lower part changes are focal with a hyaline mantle around the vessels [9]. Electron-microscopic studies demonstrated vascular leakage in these tissues and the pathogenesis of the disease has also been attributed to capillary incompetence [10]. Histochemical studies have revealed that the deposits are PAS positive and amylase resistant, indicating the presence of neutral mucopolysaccharides [11].…”

Urbach-Wiethe Syndrome and the Ophthalmologist: Review of the Literature and Introduction of the First Instance of Bilateral Uveitis

“…As mentioned before, classic presentation of such lesions is called moniliform blepharosis, which is generally believed to be one of the most pathognomonic features of UWS [13, 14]. This hallmark presents as tiny papules on eyelid margins just like a string of yellowish and waxy beads (Figure 1) and is particularly known as a strong diagnostic clue [21–23]. Some authors, however, believed that these lesions “are hardly of any clinical significance” [6].…”

Lipoid Proteinosis (Urbach-Wiethe Disease)

“…In conclusion, our findings seem to demonstrate that the pathogenesis of the disease, rather than a result of vascular leakage [10]could be due to a systemic enzyme defect in glycoprotein synthesis, The specific localization of glycoproteins on the external surface of cell plasma membranes confirms their role in cell differentiation, intercellular recognition and tissue morphogenesis [23], i.e. cell-cell interaction, intercellular adhesion, cell-cell recognition and contact inhibition of cell growth.…”

“…Histologically, there are deposits of amorphous, extracellular eosinophilic hyaline material in the upper thickened connective tissue; in the lower part changes are focal with a hyaline mantle around the vessels [9]. Electron-microscopic studies demonstrated vascular leakage in these tissues and the pathogenesis of the disease has also been attributed to capillary incompetence [10]. Histochemical studies have revealed that the deposits are PAS positive and amylase resistant, indicating the presence of neutral mucopolysaccharides [11].…”

Urbach-Wiethe Syndrome and the Ophthalmologist: Review of the Literature and Introduction of the First Instance of Bilateral Uveitis

“…As mentioned before, classic presentation of such lesions is called moniliform blepharosis, which is generally believed to be one of the most pathognomonic features of UWS [13, 14]. This hallmark presents as tiny papules on eyelid margins just like a string of yellowish and waxy beads (Figure 1) and is particularly known as a strong diagnostic clue [21–23]. Some authors, however, believed that these lesions “are hardly of any clinical significance” [6].…”

Lipoid Proteinosis (Urbach-Wiethe Disease)

“…In conclusion, our findings seem to demonstrate that the pathogenesis of the disease, rather than a result of vascular leakage [10]could be due to a systemic enzyme defect in glycoprotein synthesis, The specific localization of glycoproteins on the external surface of cell plasma membranes confirms their role in cell differentiation, intercellular recognition and tissue morphogenesis [23], i.e. cell-cell interaction, intercellular adhesion, cell-cell recognition and contact inhibition of cell growth.…”

“…Histologically, there are deposits of amorphous, extracellular eosinophilic hyaline material in the upper thickened connective tissue; in the lower part changes are focal with a hyaline mantle around the vessels [9]. Electron-microscopic studies demonstrated vascular leakage in these tissues and the pathogenesis of the disease has also been attributed to capillary incompetence [10]. Histochemical studies have revealed that the deposits are PAS positive and amylase resistant, indicating the presence of neutral mucopolysaccharides [11].…”

Urbach-Wiethe Syndrome and the Ophthalmologist: Review of the Literature and Introduction of the First Instance of Bilateral Uveitis

“…As mentioned before, classic presentation of such lesions is called moniliform blepharosis, which is generally believed to be one of the most pathognomonic features of UWS [13, 14]. This hallmark presents as tiny papules on eyelid margins just like a string of yellowish and waxy beads (Figure 1) and is particularly known as a strong diagnostic clue [21–23]. Some authors, however, believed that these lesions “are hardly of any clinical significance” [6].…”