Tags

Type your tag names separated by a space and hit enter

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+Show Affiliations

Department of Clinical Genetics, Hacettepe University Medical Faculty, Ihsan Doğramaci Children's Hospital, Ankara, Turkey. sbalci@hacettepe.edu.trNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

19716498

Citation

Balci, Sevim, et al. "A 19-year Follow-up of a Patient With Type 3 Ectrodactyly-ectodermal Dysplasia-clefting Syndrome Who Developed non-Hodgkin Lymphoma." Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics, vol. 108, no. 3, 2009, pp. e91-5.
Balci S, Engiz O, Okten G, et al. A 19-year follow-up of a patient with type 3 ectrodactyly-ectodermal dysplasia-clefting syndrome who developed non-Hodgkin lymphoma. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2009;108(3):e91-5.
Balci, S., Engiz, O., Okten, G., Sipahier, M., Gursu, G., & Kandemir, B. (2009). A 19-year follow-up of a patient with type 3 ectrodactyly-ectodermal dysplasia-clefting syndrome who developed non-Hodgkin lymphoma. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics, 108(3), e91-5. https://doi.org/10.1016/j.tripleo.2009.04.043
Balci S, et al. A 19-year Follow-up of a Patient With Type 3 Ectrodactyly-ectodermal Dysplasia-clefting Syndrome Who Developed non-Hodgkin Lymphoma. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2009;108(3):e91-5. PubMed PMID: 19716498.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A 19-year follow-up of a patient with type 3 ectrodactyly-ectodermal dysplasia-clefting syndrome who developed non-Hodgkin lymphoma. AU - Balci,Sevim, AU - Engiz,Ozlem, AU - Okten,Gulsen, AU - Sipahier,Murat, AU - Gursu,Guler, AU - Kandemir,Bedri, PY - 2007/08/15/received PY - 2009/04/16/revised PY - 2009/04/29/accepted PY - 2009/9/1/entrez PY - 2009/9/1/pubmed PY - 2009/12/16/medline SP - e91 EP - 5 JF - Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics JO - Oral Surg Oral Med Oral Pathol Oral Radiol Endod VL - 108 IS - 3 N2 - 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. SN - 1528-395X UR - https://www.unboundmedicine.com/medline/citation/19716498/A_19_year_follow_up_of_a_patient_with_type_3_ectrodactyly_ectodermal_dysplasia_clefting_syndrome_who_developed_non_Hodgkin_lymphoma_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1079-2104(09)00307-2 DB - PRIME DP - Unbound Medicine ER -