TITLE

A Novel Dinucleotide Mutation in Keratin 10 in the Annular Epidermolytic Ichthyosis Variant of Bullous Congenital Ichthyosiform Erythroderma

AUTHOR(S)
Joh, Gwang-Yeol; Traupe, Heiko; Metze, Dieter; Nashan, Dorothée; Huber, Marcel; Hohl, Daniel; Longley, Mary A.; Rothnagel, Joseph A.; Roop, Dennis R.
PUB. DATE
March 1997
SOURCE
Journal of Investigative Dermatology;Mar1997, Vol. 108 Issue 3, p357
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
Annular epidermolytic ichthyosis has recently been delineated as a distinct clinical phenotype within the spectrum of epidermolytic keratinization disorders. The pattern of inheritance of the disorder is consistent with an autosomal dominant mode of transmission. Here we report a second incidence of this disorder in a family with two affected generations. The proband suffered from bullous ichthyosis and had bouts of disease activity associated with the development of numerous annular and polycyclic erythematous, hyperkeratotlc plaques on the trunk and the proximal extremities. Histologic examination showed the typical pathology of epidermolytic hyperkeratosis, and ultrastructural analysis revealed abnormal keratin filament networks and tonofilament clumping with a perinuclear distribution. Molecular analysis revealed a novel tandem CG to GA 2-bp mutation in the same allele of keratin 10 in affected individuals, resulting in an arginine to glutamate substitution at residue 83 (R83E) of the 2B helical segment. We conclude that annular epidermolytic ichthyosis should be considered a variant of bullous congenital ichthyosiform erythroderma.
ACCESSION #
12286491

 

Related Articles

  • Ultrastructural Changes Resulting from Keratin-9 Gene Mutations in Two Families with Epidermolytic Palmoplantar Keratoderma. Navsaria, Harshad A.; Swensson, Ole; Ratnavel, Ravi C.; Shamsher, Monee; McLean, W. H. Irwin; Lane, E. Birgitte; Griffiths, W. Andrew D.; Eady, Robin A. J.; Leigh, Irene M. // Journal of Investigative Dermatology;Mar1995, Vol. 104 Issue 3, p425 

    Palmoplantar keratodenna of Voerner type (or epidermolytic palmoplantar keratoderma) is an autosoml dominant inherited disorder of keratinization with histologic features of epidermolytic hyperkeratosis, We studied members of two large unrelated kindreds with epidermolytic palmoplantar...

  • A Novel H1 Mutation in the Keratin 1 Chain in Epidermolytic Hyperkeratosis. Jun-Mo Yang; Kiebang Nam; Ki-Beom Park; Won-Serk Kim; Kee-Chan Moon; Koh, Jai K.; Steinert, Peter M.; Eil-Soo Lee // Journal of Investigative Dermatology;Sep96, Vol. 107 Issue 3, p439 

    We report a novel mutation in a case of epidermolytic hyperkeratosis that results in a proline for arginine substitution in the penultimate residue position of the H1 subdomain of the keratin 1 chain, which is sear the beginning of the rod domain. This causes a severe clinical disease classified...

  • Ichthyosis bullosa. Jacyk, Witold Kamil; Moche, M. John; van Rensburg, Elizabeth Jansen; Akiyama, Masashi // Clinical Dermatology / Dermatologia Kliniczna;2010, Vol. 12 Issue 3, p171 

    Ichthyosis bullosa of Siemens (IB) is a congenital ichthyosis characterized by mild epidermal hyperkeratosis, formation of blisters and the development of superficially denuded areas of hyperkeratosis ("Mauserung"). It is often difficult to distinguish clinically severe IB from mild bullous...

  • Harlequin ichthyosis unmasked: a defect of lipid transport. Hovnanian, Alain // Journal of Clinical Investigation;Jul2005, Vol. 115 Issue 7, p1708 

    Harlequin ichthyosis (HI) - the most severe form of keratinizing disorders, often lethal in the neonatal period - is characterized by a profound thickening of the keratin skin layer, a dense "armor"-like scale that covers the body, and contraction abnormalities of the eyes, ears, and mouth. In...

  • Mutations in the 1A Domain of Keratin 9 in Patients with Epidermolytic Palmoplantar Keratoderma. Rothnagel, Joseph A.; Wojcik, Sonja; Liefer, Kristin M.; Dominey, Andrea M.; Huber, Marcel; Hohl, Daniel; Roop, Dennis R. // Journal of Investigative Dermatology;Mar1995, Vol. 104 Issue 3, p430 

    Epidermolytic palmoplantar keratodenna is an autosomal dominant skin disorder characterized by hyperkeratosis of the palms and soles, Ultrastructurally the disease exhibits abnormal keratin filament nets works and tonofilament clumping like that found in the keratin disorders of epidermolysis...

  • The Large Type II 70-kDa Keratin of Mouse Epidermis Is the Ortholog of Human Keratin K2e. Herzog, Frank; Winter, Hermelita; Schweizer, Jürgen // Journal of Investigative Dermatology;Feb94, Vol. 102 Issue 2, p165 

    The basic keratin pattern of mammalian epidermis consists of the basal keratin pair K5/K14 and the differentiation-specific keratin pair K1/K10. Distinct skin sites of the adult mouse, i.e., ear, sole of the foot, and interscale regions of tail skin, express an additional, type II 70-kilodalton...

  • An Alanine to Proline Mutation in the 1A Rod Domain of the Keratin 10 Chain in Epidermolytic Hyperkeratosis. Yang, Jun-Mo; Yoneda, Kozo; Morita, Eishin; Imamura, Sadao; Nam, Kiebang; Lee, Eil-Soo; Steinert, Peter M. // Journal of Investigative Dermatology;Nov97, Vol. 109 Issue 5, p692 

    We report a mutation in a case of epidermolytic hyperkeratosis that results in a proline for alanine substitution in the residue position 12 of the 1A subdomain of the keratin 10 chain (codon 158). The disease phenotype is consistent with the inappropriate substitution of a proline near the...

  • Ichthyosis Vulgaris: Identification of a Defect in Synthesis of Filaggrin Correlated with an Absence of Keratohyaline Granules. Sybert, Virginia P.; Dale, Beverly A.; Holbrook, Karen A. // Journal of Investigative Dermatology;Mar1985, Vol. 84 Issue 3, p191 

    Ichthyosis vulgaris is an autosomal dominant disorder of keratinization characterized histologically by absent or reduced keratohyaline granules in the epidermis and mild hyperkeratosis. The basic defect in ichthyosis vulgaris is unknown. We have tested for the presence of filaggrin and its...

  • Impaired Epidermal Ceramide Synthesis Causes Autosomal Recessive Congenital Ichthyosis and Reveals the Importance of Ceramide Acyl Chain Length. Eckl, Katja-Martina; Tidhar, Rotem; Thiele, Holger; Oji, Vinzenz; Hausser, Ingrid; Brodesser, Susanne; Preil, Marie-Luise; Önal-Akan, Aysel; Stock, Friedrich; Müller, Dietmar; Becker, Kerstin; Casper, Ramona; Nürnberg, Gudrun; Altmüller, Janine; Nürnberg, Peter; Traupe, Heiko; Futerman, Anthony H; Hennies, Hans C // Journal of Investigative Dermatology;Sep2013, Vol. 133 Issue 9, p2202 

    The barrier function of the human epidermis is supposed to be governed by lipid composition and organization in the stratum corneum. Disorders of keratinization, namely ichthyoses, are typically associated with disturbed barrier activity. Using autozygosity mapping and exome sequencing, we have...

Share

Read the Article

Courtesy of VIRGINIA BEACH PUBLIC LIBRARY AND SYSTEM

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics