Uncombable hair and atopic dermatitis in a case of trichodento-osseous syndrome.
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.
Mayer
Dagmara E Y
DE
FAZ - Floridsdorf Allergy Center, Vienna, Austria.
Baal
Christian
C
Litschauer-Poursadrollah
Margaritha
M
Hemmer
Wolfgang
W
Jarisch
Reinhart
R
D019943:Amino Acid Substitution / Q000235:genetics; D002648:Child; D002869:Chromosome Aberrations; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D004252:DNA Mutational Analysis; D003744:Dental Enamel Hypoplasia / Q000175:diagnosis / Q000235:genetics*; D003786:Dental Pulp Cavity / Q000002:abnormalities*; D003876:Dermatitis, Atopic / Q000175:diagnosis / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006197:Hair / Q000002:abnormalities* / Q000473:pathology; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007532:Isoleucine / Q000235:genetics; D008854:Microscopy, Electron; D010641:Phenotype; D012694:Serine / Q000235:genetics; D013577:Syndrome; D014071:Tooth Abnormalities / Q000175:diagnosis / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
C088334:Distal-less homeobox proteins; D018398:Homeodomain Proteins; D014157:Transcription Factors; D007532:Isoleucine; D012694:Serine