Summary
Kindler syndrome is an autosomal recessive genodermatosis characterized by acral blistering
in neonates and diffuse, progressive poikiloderma in later life. Other clinical features
include photosensitivity, premature skin ageing and severe periodontal disease. Two
groups have recently shown that the molecular basis of Kindler syndrome is loss of
a novel epidermal protein, kindlin-1, encoded by the gene KIND1. Two additional kindlin proteins, kindlin-2 and kindlin-3, have also been described.
Kindlin-1 is considered to be a component in the linkage of the actin cytoskeleton
to the extracellular matrix and as such is proposed to have both structural and cell-signalling
functions. Kindler syndrome is therefore the first skin fragility syndrome due to
disruption of the actin–extracellular matrix system.
Keywords
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Biography
Sharon J. White graduated from the University of Dundee, Scotland with a BMSc(Honours) in Anatomy in 1993 and a BDS with Honours in 1996. She completed general professional training in 1998 then worked for 3 years as a general dental practitioner in Glasgow, Scotland. In 2001 she returned to Ninewells Hospital, Dundee as a Senior House Officer in Oral Pathology and in 2002 obtained Membership of the Faculty of Dental Surgery (MFDS) of the Royal College of Physicians and Surgeons of Glasgow. She was awarded an MRC Clinical Research Training Fellowship in 2003 and is currently working towards a PhD in Molecular Genetics in the Epithelial Genetics Group, Ninewells, Dundee. She also holds an Honorary Specialist Registrar post in Oral Pathology. Her main interest is oral and maxillofacial pathology, particularly the oral manifestations of hereditary skin disorders.
Biography
W.H. Irwin McLean graduated from The Queen's University of Belfast, Northern Ireland with a BSc(Honours) in Microbiology in 1985 and a PhD in Human Genetics in 1988. He worked as a Research Assistant in Medical Genetics in Belfast from 1985 to 1991 and as a Postdoctoral Fellow in Department of Anatomy and Physiology, University of Dundee, Scotland from 1992 to 1996. He moved to Thomas Jefferson University, Philadelphia, USA in 1996 where he was Associate Professor in Dermatology and Cutaneous Biology until 1998, when he returned to Ninewells Medical School at the University of Dundee as a Wellcome Trust Senior Research Fellow and from 2002, as Professor of Human Genetics. He was awarded a DSc degree from The Queen's University of Belfast in 1999 for his work on inherited skin diseases. He sits on the Editorial boards of the Journal of Investigative Dermatology and Journal of Dermatological Science. His main research interest is understanding the genetics and molecular pathology of hereditary diseases that cause fragility of the epidermis, its appendages and other epithelial tissues. Recently, the emphasis of his work has begun to move away from gene mapping and gene function towards therapy development for inherited skin disorders.
Article info
Publication history
Accepted:
December 22,
2004
Received in revised form:
December 21,
2004
Received:
October 29,
2004
Identification
Copyright
© 2005 Japanese Society for Investigative Dermatology. Published by Elsevier Inc. All rights reserved.
