| Uncombable hair and atopic dermatitis in a case of trichodento-osseous syndrome. | |
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MedLine Citation:
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PMID: 20151948 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The tricho-dento-osseous syndrome is a rare genetic disorder due to a mutation in the DLX3 gene on chromosome 17q21. It can affect hair, teeth, bone and nails, causing phenotypic variability. We report on an 8-year-old girl with tricho-dento-osseous syndrome, who presented in our allergy center with severe atopic dermatitis. Additional clinical findings included light, kinky hair reminiscent of pili trianguli et canaliculi (uncombable hair), enamel hypoplasia and enlarged pulp chambers of the molar teeth (taurodontism). A genetic investigation revealed a de-novo mutation in the DLX3 gene on chromosome 17q21. Electron microscopic examination of the curly hair showed a flattened hair shaft with longitudinal grooves. |
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Authors:
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Dagmara E Y Mayer; Christian Baal; Margaritha Litschauer-Poursadrollah; Wolfgang Hemmer; Reinhart Jarisch |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG Volume: 8 ISSN: 1610-0387 ISO Abbreviation: J Dtsch Dermatol Ges Publication Date: 2010 Feb |
Date Detail:
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Created Date: 2010-02-15 Completed Date: 2010-07-01 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101164708 Medline TA: J Dtsch Dermatol Ges Country: Germany |
Other Details:
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Languages: eng Pagination: 102-4 Citation Subset: IM |
Affiliation:
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FAZ - Floridsdorf Allergy Center, Vienna, Austria. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Substitution
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genetics Child Chromosome Aberrations* Chromosomes, Human, Pair 17 / genetics* DNA Mutational Analysis Dental Enamel Hypoplasia / diagnosis, genetics* Dental Pulp Cavity / abnormalities* Dermatitis, Atopic / diagnosis, genetics* Ectodermal Dysplasia / diagnosis, genetics* Female Genes, Dominant / genetics Hair / abnormalities*, pathology Homeodomain Proteins / genetics* Humans Isoleucine / genetics Microscopy, Electron Phenotype Serine / genetics Syndrome Tooth Abnormalities / diagnosis, genetics* Transcription Factors / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Distal-less homeobox proteins; 0/Homeodomain Proteins; 0/Transcription Factors; 56-45-1/Serine; 73-32-5/Isoleucine |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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