A 19-year follow-up of a patient with type 3 ectrodactyly-ectodermal dysplasia-clefting syndrome who developed non-Hodgkin lymphoma
| Autor: | Güler Gürsu, Sevim Balci, Bedri Kandemir, Gülsen Ökten, Murat Sipahier, Ozlem Engiz |
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| Přispěvatelé: | Ondokuz Mayıs Üniversitesi |
| Jazyk: | angličtina |
| Rok vydání: | 2009 |
| Předmět: |
Male
Ectodermal dysplasia Pathology medicine.medical_specialty Ectrodactyly Foot Deformities Congenital Cleft Lip Hydronephrosis Malignancy Fatal Outcome Ectodermal Dysplasia medicine Limb development Humans Ureteral Diseases General Dentistry business.industry Tooth Abnormalities Tumor Suppressor Proteins Infant Syndrome medicine.disease Lymphoma Cleft Palate stomatognathic diseases Otorhinolaryngology Trans-Activators Hodgkin lymphoma Surgery Lymphoma Large B-Cell Diffuse Oral Surgery Complication business Hand Deformities Congenital Follow-Up Studies Transcription Factors |
| DOI: | 10.1016/j.tripleo.2009.04.043 |
| Popis: | WOS: 000269361900051 PubMed: 19716498 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. (Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2009; 108:e91-e95) |
| Databáze: | OpenAIRE |
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