title: A 19-year follow-up of a patient with type 3 ectrodactyly-ectodermal dysplasia-clefting syndrome who developed non-Hodgkin lymphoma.
abstract: The ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is characterized by ectrodactyly, ectodermal dysplasia, and clefting. The development of a malignancy with EEC syndrome is very rare. Here we present follow-up on a Turkish boy with EEC syndrome type 3 who developed malignant lymphoma with high expression of p63. He had chronic renal failure due to recurrent urinary infections caused by ureterovesical reflux. Cervical, diffuse, large, B-cell non-Hodgkin lymphoma with high expression of p63 was diagnosed, and the patient died at 19 years of age. The transcription factor p63 is a key regulator of ectodermal, orofacial, and limb development. Mutations in the p63 gene can cause syndromes of ectodermal dysplasia, ectrodactyly, and orofacial clefting. Malignant lymphoma is a very rare complication of EEC syndrome. We suggest that p63 gene mutation analysis should be performed in every EEC syndrome patient with the possibility of developing malignant tumors.
authors.affiliation: Department of Clinical Genetics, Hacettepe University Medical Faculty, Ihsan Doğramaci Children's Hospital, Ankara, Turkey. sbalci@hacettepe.edu.tr
authors.forename: Sevim
authors.initials: S
authors.lastname: Balci
authors.forename: Ozlem
authors.initials: O
authors.lastname: Engiz
authors.forename: Gulsen
authors.initials: G
authors.lastname: Okten
authors.forename: Murat
authors.initials: M
authors.lastname: Sipahier
authors.forename: Guler
authors.initials: G
authors.lastname: Gursu
authors.forename: Bedri
authors.initials: B
authors.lastname: Kandemir
mesh_terms: D002971:Cleft Lip / Q000235:genetics / Q000473:pathology*; D002972:Cleft Palate / Q000235:genetics / Q000473:pathology*; D004476:Ectodermal Dysplasia / Q000235:genetics / Q000473:pathology*; D017809:Fatal Outcome; D005500:Follow-Up Studies; D005532:Foot Deformities, Congenital / Q000235:genetics / Q000473:pathology*; D006228:Hand Deformities, Congenital / Q000235:genetics / Q000473:pathology*; D006801:Humans; D006869:Hydronephrosis / Q000473:pathology; D007223:Infant; D016403:Lymphoma, Large B-Cell, Diffuse / Q000235:genetics / Q000473:pathology*; D008297:Male; D013577:Syndrome; D014071:Tooth Abnormalities / Q000473:pathology; D015534:Trans-Activators / Q000235:genetics; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins / Q000235:genetics; D014515:Ureteral Diseases / Q000473:pathology
chemical_list: C115051:TP63 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins