Abstract:
:Epidermolytic hyperkeratosis (EHK) is a genodermatosis caused by mutations in either the keratin 1 (K1) or keratin 10 (K10) genes, and characterized by erythroderma and blistering at birth, with development of a ribbed, ichthyotic hyperkeratosis and palmoplantar keratoderma. A wide variety of mutations within the highly conserved helix termination motifs of the central rod domains of the K1 or K10 genes correlate with the highly variable phenotypic severity observed in EHK. We report a unique EHK-like phenotype exhibiting autosomal dominant inheritance with variable expressivity in four affected individuals in a single family. Clinically, affected individuals manifest transient blistering at birth followed by chronic diffuse palmoplantar keratoderma without transgradiens. Intermittent flares of non-migratory polycylic erythematous psoriasiform plaques which worsen and abate in severity were present in all affected individuals, but showed immense individual variation in both severity and duration, ranging from weeks to months. Histopathologic examination of the psoriasiform plaques demonstrated the characteristic features of EHK. Sequencing of the K1 gene in affected family members revealed a heterozygous A-to-T transversion at nucleotide 1435 within exon 7, converting isoleucine (ATT) to phenylalanine (TTT), (I479F). The mutation resides within the highly conserved helix termination motif of the helix 2B segment of the K1 gene. This unique clinical phenotype and the associated K1 mutation have not been previously described, and it is referred to here as EHK with polycyclic, psoriasiform plaques (EHK/PPP).
journal_name
Exp Dermatoljournal_title
Experimental dermatologyauthors
Michael EJ,Schneiderman P,Grossman ME,Christiano AMdoi
10.1111/j.1600-0625.1999.tb00309.xsubject
Has Abstractpub_date
1999-12-01 00:00:00pages
501-3issue
6eissn
0906-6705issn
1600-0625journal_volume
8pub_type
杂志文章abstract::Ultraviolet (UV) irradiation on skin triggers photoageing-related phenotypes such as formation of wrinkles. UV ray upregulates matrix metalloproteinase-1 (MMP-1), which in turn degrades extracellular matrix proteins, mostly collagens. Serum amyloid A1 (SAA1) is an acute-phase protein of which plasma concentration incr...
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pub_type: 信件,随机对照试验
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pub_type: 评论,杂志文章
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