Search engine for discovering works of Art, research articles, and books related to Art and Culture
Javascript must be enabled to continue!
Autosomal dominant Muckle‐Wells syndrome associated with cystinuria, ichthyosis, and aphthosis in a four‐generation family
View through CrossRef
AbstractMuckle‐Wells syndrome is a rare autosomal dominant disorder characterized by chronic recurrent urticaria, periodic arthritis, sensorineural deafness, general signs of inflammation, and secondary amyloidosis (AA type). We report on a 4‐generation family with 7 persons sharing various signs of this syndrome associated with bipolar aphthosis in 5 cases and cystinuria in one. Two other relatives in the family had ichthyosis. © 1994 Wiley‐Liss, Inc.
Title: Autosomal dominant Muckle‐Wells syndrome associated with cystinuria, ichthyosis, and aphthosis in a four‐generation family
Description:
AbstractMuckle‐Wells syndrome is a rare autosomal dominant disorder characterized by chronic recurrent urticaria, periodic arthritis, sensorineural deafness, general signs of inflammation, and secondary amyloidosis (AA type).
We report on a 4‐generation family with 7 persons sharing various signs of this syndrome associated with bipolar aphthosis in 5 cases and cystinuria in one.
Two other relatives in the family had ichthyosis.
© 1994 Wiley‐Liss, Inc.
Related Results
Increased life expectancy of heart failure patients in a rural center by a multidisciplinary program
Increased life expectancy of heart failure patients in a rural center by a multidisciplinary program
Abstract
Funding Acknowledgements
Type of funding sources: None.
INTRODUCTION Patients with heart failure (HF)...
Hubungan Perilaku Pola Makan dengan Kejadian Anak Obesitas
Hubungan Perilaku Pola Makan dengan Kejadian Anak Obesitas
<p><em><span style="font-size: 11.0pt; font-family: 'Times New Roman',serif; mso-fareast-font-family: 'Times New Roman'; mso-ansi-language: EN-US; mso-fareast-langua...
Primary PCI: a reasonable treatment for STEMI care during the COVID-19 pandemic
Primary PCI: a reasonable treatment for STEMI care during the COVID-19 pandemic
Abstract
Funding Acknowledgements
Type of funding sources: None.
Introduction
...
Ichthyosis (concept, pathohistology, clinical picture, treatment)
Ichthyosis (concept, pathohistology, clinical picture, treatment)
Ichthyosis is a skin disease that is hereditary, has pronounced symptoms in the form of a violation of the skin, and the presence of formations resembling fish scales. It is possib...
On Flores Island, do "ape-men" still exist? https://www.sapiens.org/biology/flores-island-ape-men/
On Flores Island, do "ape-men" still exist? https://www.sapiens.org/biology/flores-island-ape-men/
<span style="font-size:11pt"><span style="background:#f9f9f4"><span style="line-height:normal"><span style="font-family:Calibri,sans-serif"><b><spa...
Risk of major organ involvement in Behçet’s patients with mucocutaneous onset: data from the AIDA Network Registry
Risk of major organ involvement in Behçet’s patients with mucocutaneous onset: data from the AIDA Network Registry
Abstract
Objectives
The progression of Behçet’s disease (BD) from a mucocutaneous-limited form to major organ involvement...
Ichthyosis Etiology and Clinical Manifestation Update: A Review Article
Ichthyosis Etiology and Clinical Manifestation Update: A Review Article
Introduction: Ichthyosis a keratinization disorder, the skin becomes dry and scaly, might like fish appearance. The keratinization process cells in the stratum corneum are changing...
A Case Report on Ichthyosis Vulgaris; Ayurvedic View and Management
A Case Report on Ichthyosis Vulgaris; Ayurvedic View and Management
Ichthyosis are a heterogeneous group of Hereditary and acquired disorders of keratinization characterized by the presence of visible scales on skin surface. The word is derived fro...