A 19-year follow-up of a patient with type 3 ectrodactyly–ectodermal dysplasia–clefting syndrome who developed non-Hodgkin lymphoma

Balcí, Sevim; Engiz, Ozlem; Ökten, Gülsen; Sipahier, Murat; Gürsu, Güler; Kandemır, Bedrı

doi:10.1016/j.tripleo.2009.04.043

Cited by 10 publications

(12 citation statements)

References 23 publications

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“…Intelligence is usually preserved, however there may delay in speech development, which is due to associated hearing loss. Few long-term case report has shown their progression to Hodgkin lymphoma (30). There has been one case report of EEC syndrome associated with congenital heart disease (Ventricular septal defect with aortic regurgitation) (17).…”

Section: Discussionmentioning

confidence: 99%

Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination

et al. 2015

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Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) syndrome is a rare genetic disorder with an incidence of around 1 in 90,000 in population. It is known with various names including split hand–split foot–ectodermal dysplasia–cleft syndrome or split hand, cleft hand, or lobster claw hand/foot. We report first case of EEC with associated heart disease (Tetralogy of Fallot) who was diagnosed as EEC on the basis of clinical features and EEC was confirmed with genetic analysis.

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Section: Discussionmentioning

confidence: 99%

Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination

et al. 2015

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“…This mutation was also located in the DNA binding domain of the protein but in a different position than in our case. Unfortunately, cases reported by Gershoni‐Baruch et al (10), Ogutcen‐Toller et al (11), and Balci et al (13) lack genetic molecular study. Although all of these cases were described in patients with ED of EEC type, there are no studies assessing the relative risk of these patients for developing hematologic malignancies, and in our opinion, there is not enough evidence to indicate that a specific mutation can predict a higher susceptibility to developing hematologic malignancies.…”

Section: Discussionmentioning

confidence: 99%

“…In our case, the mutation described, along with the chemotherapy he received, suggest a high risk of a secondary malignancy, so close clinical follow-up is warranted not only in the patient, but also in family members. Some experimental studies in mice and case reports of lymphoma associated with p63 syndromes suggest a possible role for p63 in tumor supression (10)(11)(12)(13), but other studies have not found enhanced tumor susceptibility in p63-null mice (14). Akahoshi et al (12) reported a case of EEC syndrome with a heterozygous missense mutation involving exon 8 (Asp312Gly) associated with B-cell lymphoma.…”

Section: Discussionmentioning

confidence: 99%

A Novel Heterozygous Point Mutation in the p63 Gene in a Patient with Ectodermal Dysplasia Associated with B‐Cell Leukemia

Cabanillas

Torrelo

Monteagudo

et al. 2011

Pediatric Dermatology

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We report a 7-year-old boy with a past medical history of B-cell leukemia with dysmorphic features, including cleft palate, hypotrichosis with trichorrhexis nodosa, hypohidrosis, oligodontia, and ridging of nails. A heterozygous germline mutation, Ala111Thr, in the p63 gene was detected in the boy and in his mother, who had no clinical expression. This case emphasizes the spectrum of different phenotypical manifestations of mutations in the p63 gene and underlines the possible role of this gene as a tumor suppressor.

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“…1,5 The inheritance is commonly autosomal dominant with incomplete penetrance of about 78%, and diverse genetic studies have determined that mutations or impairments in the TP63 and TP73L genes protein binding to the DNA occur in the syndrome. 3,5,6 According to Balci et al, 7 there are three identified types of EEC with different gene loci: (i) OMIM 129900, assigned to 7q11.2-q21.3; (ii) MIM 602077, assigned to chromosome 19; and (iii) OMIM 604293, assigned to 3q27. On the other hand, from the clinical perspective, two forms of EEC are recognized: (i) cleft lip with or without cleft palate, and (ii) cleft palate alone.…”

Section: Introductionmentioning

confidence: 99%

Oral management of children/adolescents with ectrodactyly‐ectodermal dysplasia‐clefting (EEC) syndrome: A scoping review

Garrocho‐Rangel

Serrano‐Aguilar

Hernández‐Molinar

et al. 2022

Special Care in Dentistry

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Aims: EEC is a rare syndrome characterized by the triad of ectrodactyly, ectodermal dysplasia, and orofacial clefting, along with other clinical manifestations mainly in hair, skin, and teeth. The present paper aimed to perform a scoping review to collect the most relevant studies and focused on the diagnosis and oral management of EEC syndrome in the pediatric dental setting. This review also pretended to make recommendations and map the gaps in this clinical topic. Methods: An exhaustive electronic and manual search was conducted in four databases (PubMed, EMBASE, Google Scholar, and Dentistry & Oral Sciences Source/EBSCO) according to previously established eligibility criteria, using different combinations of keywords, MeSH terms, and Boolean operators. Titles, abstracts, and full-text articles were screened and selected by precalibrated reviewers. A data charting was also accomplished for summarizing the overview of the evidence. Results: A total of 37 references were identified, and 32 titles remained after removing duplicates; then, 25 potential full-text articles were carefully reviewed. Finally, 15 relevant and most informative studies were included. Most studies were single clinical case reports. Only one descriptive retrospective study was detected. None randomized clinical trials or comparative observational studies were found. A medical/dental multidisciplinary approach is needed for the management of EEC syndrome. Conclusions: Diverse dental specialists must be involved. Pediatric dentists must play a principal role in the prevention and treatment of oral diseases; particularly the preservation of the primary and mixed dentitions, trying to achieve normal orofacial growth.

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A 19-year follow-up of a patient with type 3 ectrodactyly–ectodermal dysplasia–clefting syndrome who developed non-Hodgkin lymphoma

Cited by 10 publications

References 23 publications

Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination

Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination

A Novel Heterozygous Point Mutation in the p63 Gene in a Patient with Ectodermal Dysplasia Associated with B‐Cell Leukemia

Oral management of children/adolescents with ectrodactyly‐ectodermal dysplasia‐clefting (EEC) syndrome: A scoping review

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