“Nails Only” Phenotype and Partial Dominance of p.Glu170Lys Mutation in a Family with Epidermolysis Bullosa Simplex
Epidermolysis bullosa (EB) is a heterogeneous group of rare, chronic, inherited skin disorders characterized by marked mechanical fragility of epithelial tissues, with blistering and erosions after minor trauma. We present the first report of a nails‐only phenotype in two patients with epidermolysis...
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| Veröffentlicht in: | Pediatric dermatology 2017-07, Vol.34 (4), p.e205-e206 |
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| container_title | Pediatric dermatology |
| container_volume | 34 |
| creator | González‐Cantero, Álvaro Sánchez‐Moya, Ana Isabel Pérez‐Hortet, Cristina Martínez‐Lorenzo, Elena Gómez‐Dorado, Blas Schoendorff‐Ortega, Cristina |
| description | Epidermolysis bullosa (EB) is a heterogeneous group of rare, chronic, inherited skin disorders characterized by marked mechanical fragility of epithelial tissues, with blistering and erosions after minor trauma. We present the first report of a nails‐only phenotype in two patients with epidermolysis bullosa simplex (EBS) and a heterozygous pGlu170Lys mutation and the second reported case of EBS associated with a homozygous p.Glu170Lys mutation in the KRT5 gene. Our findings may be relevant for genetic counseling and for understanding the inheritance pattern of EBS. |
| doi_str_mv | 10.1111/pde.13146 |
| format | Article |
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We present the first report of a nails‐only phenotype in two patients with epidermolysis bullosa simplex (EBS) and a heterozygous pGlu170Lys mutation and the second reported case of EBS associated with a homozygous p.Glu170Lys mutation in the KRT5 gene. 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Our findings may be relevant for genetic counseling and for understanding the inheritance pattern of EBS.</description><subject>Adult</subject><subject>Child</subject><subject>Epidermolysis bullosa</subject><subject>Epidermolysis Bullosa Simplex - genetics</subject><subject>Female</subject><subject>Genetic counseling</subject><subject>Heredity</subject><subject>Humans</subject><subject>Keratin-5 - genetics</subject><subject>Male</subject><subject>Mutation</subject><subject>Nails (Anatomy)</subject><subject>Nails - pathology</subject><subject>Phenotype</subject><subject>Trauma</subject><issn>0736-8046</issn><issn>1525-1470</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kctu1EAQRVsIRIaEBT-AWmIDi5n0w_3wkiSTgDQhIwXWrRq7Rumo7TZuW4N3-RD4uXwJHSawiERtanPq6KouIW84W_A8x12NCy55oZ-RGVdCzXlh2HMyY0bquWWFPiCvUrpljFmt-UtyIGwhVL6ckd393c8v4EOiV22Y7u9-0fUNtnGYOqTQ1nQN_eAh0LPY-BbaCmnc0m5xEUZu2GpK9HIcYPCxpb6lQM-h8WGiOz_c0GXna-ybGKbkEz0ZQ4gJ6LVvuoA_jsiLLYSErx_3Ifl2vvx6-mm-urr4fPpxNa-kyuGBl8IKtlFiI7SqbckYFKpSWG0UWouskAYqrbfSGiVMYbgGg2CxEFCiMvKQvN97uz5-HzENrvGpwhCgxTgmx23JmbWM6Yy-e4LexrFvczqXUzAlSykfqA97qupjSj1uXdf7BvrJceYe2nC5Dfenjcy-fTSOmwbrf-Tf92fgeA_sfMDp_ya3Plvulb8BDiOTuA</recordid><startdate>201707</startdate><enddate>201707</enddate><creator>González‐Cantero, Álvaro</creator><creator>Sánchez‐Moya, Ana Isabel</creator><creator>Pérez‐Hortet, Cristina</creator><creator>Martínez‐Lorenzo, Elena</creator><creator>Gómez‐Dorado, Blas</creator><creator>Schoendorff‐Ortega, Cristina</creator><general>Wiley Subscription Services, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>H94</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0001-8060-4784</orcidid></search><sort><creationdate>201707</creationdate><title>“Nails Only” Phenotype and Partial Dominance of p.Glu170Lys Mutation in a Family with Epidermolysis Bullosa Simplex</title><author>González‐Cantero, Álvaro ; Sánchez‐Moya, Ana Isabel ; Pérez‐Hortet, Cristina ; Martínez‐Lorenzo, Elena ; Gómez‐Dorado, Blas ; Schoendorff‐Ortega, Cristina</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3536-a192820b52b265d8900a45c5ecb5e88e0437ac66f3875274716a7ea8e42a9e573</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Adult</topic><topic>Child</topic><topic>Epidermolysis bullosa</topic><topic>Epidermolysis Bullosa Simplex - genetics</topic><topic>Female</topic><topic>Genetic counseling</topic><topic>Heredity</topic><topic>Humans</topic><topic>Keratin-5 - genetics</topic><topic>Male</topic><topic>Mutation</topic><topic>Nails (Anatomy)</topic><topic>Nails - pathology</topic><topic>Phenotype</topic><topic>Trauma</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>González‐Cantero, Álvaro</creatorcontrib><creatorcontrib>Sánchez‐Moya, Ana Isabel</creatorcontrib><creatorcontrib>Pérez‐Hortet, Cristina</creatorcontrib><creatorcontrib>Martínez‐Lorenzo, Elena</creatorcontrib><creatorcontrib>Gómez‐Dorado, Blas</creatorcontrib><creatorcontrib>Schoendorff‐Ortega, Cristina</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>MEDLINE - Academic</collection><jtitle>Pediatric dermatology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>González‐Cantero, Álvaro</au><au>Sánchez‐Moya, Ana Isabel</au><au>Pérez‐Hortet, Cristina</au><au>Martínez‐Lorenzo, Elena</au><au>Gómez‐Dorado, Blas</au><au>Schoendorff‐Ortega, Cristina</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>“Nails Only” Phenotype and Partial Dominance of p.Glu170Lys Mutation in a Family with Epidermolysis Bullosa Simplex</atitle><jtitle>Pediatric dermatology</jtitle><addtitle>Pediatr Dermatol</addtitle><date>2017-07</date><risdate>2017</risdate><volume>34</volume><issue>4</issue><spage>e205</spage><epage>e206</epage><pages>e205-e206</pages><issn>0736-8046</issn><eissn>1525-1470</eissn><abstract>Epidermolysis bullosa (EB) is a heterogeneous group of rare, chronic, inherited skin disorders characterized by marked mechanical fragility of epithelial tissues, with blistering and erosions after minor trauma. 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| source | MEDLINE; Access via Wiley Online Library |
| subjects | Adult Child Epidermolysis bullosa Epidermolysis Bullosa Simplex - genetics Female Genetic counseling Heredity Humans Keratin-5 - genetics Male Mutation Nails (Anatomy) Nails - pathology Phenotype Trauma |
| title | “Nails Only” Phenotype and Partial Dominance of p.Glu170Lys Mutation in a Family with Epidermolysis Bullosa Simplex |
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