Acro-dermato-ungual-lacrimal-tooth-like syndrome: report of a family with variable expression.
We report the case of a young boy with fine hair, mild nail dysplasia, blocked nasolacrimal ducts, absence of central incisors, bilateral oligodactyly of feet and anal stenosis. His father showed the same spectrum of anomalies with mild expression. He had mild nail dysplasia, blocked nasolacrimal ducts, inferior dental cysts with consequent premature tooth loss, frequent dental decays consequent to enamel abnormality and cutaneous syndactyly of the second and third right toe. The acro-dermato-ungual-lacrimal-tooth syndrome was suspected and molecular analysis of the P63 gene was performed, but no mutation was found. Although P63 gene analysis was negative, we think that both cases show clinical overlap with the acro-dermato-ungual-lacrimal-tooth syndrome and confirm the wide expression of this condition, even in the same family.
Bedeschi
Maria Francesca
MF
Medical Genetic Unit, IRCCS Foundation Policlinico, Mangiagalli and Regina Elena Department of Biology and Medical Sciences, University of Milan, Milan, Italy Laboratory of Biochemistry and Molecular Biology, Institute of Pathology and Biology, University Hospital Lille, Lille, France.
Escande
Fabienne
F
Bellini
Melissa
M
Natacci
Federica
F
Cavallari
Ugo
U
Lalatta
Faustina
F
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D004268:DNA-Binding Proteins / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000235:genetics; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D008297:Male; D009264:Nails, Malformed / Q000235:genetics*; D009301:Nasolacrimal Duct / Q000002:abnormalities*; D010641:Phenotype; D013576:Syndactyly / Q000235:genetics; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics*; D015534:Trans-Activators / Q000235:genetics; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins / Q000235:genetics
D004268:DNA-Binding Proteins; C115051:TP63 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins