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  • Title: A 19-year follow-up of a patient with type 3 ectrodactyly-ectodermal dysplasia-clefting syndrome who developed non-Hodgkin lymphoma.
    Author: Balci S, Engiz O, Okten G, Sipahier M, Gursu G, Kandemir B.
    Journal: Oral Surg Oral Med Oral Pathol Oral Radiol Endod; 2009 Sep; 108(3):e91-5. PubMed ID: 19716498.
    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.
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