A Case of Ectrodactyly-ectodermal Dysplasia-cleft Syndrome with Bilateral Epiphora

PURPOSE: In the present study, a case of recurrent nasolacrimal duct obstruction as ectrodactyly-ectodermal dysplasia-cleft syndrome is reported. CASE SUMMARY: An 18-year-old male complained of epiphora in both eyes. By the age of 1, he was diagnosed with nasolacrimal duct obstruction and received left side dacryocystotomy, both sides silicone tube insertion and, right side endoscopic dacryocystorhinostomy. The general findings showed microdontia and, bilateral ectrodactyly. An irrigation test showed ‘regurgitation without pus’ and Jones test showed ‘negative’ in both sides. Complete obstruction was observed on dacryocystography and the patient underwent endoscopic conjunctivodacryocystorhinostomy with Jones tube at right side and endoscopic dacryocystorhinostomy at left side. The chromosome test showed normal findings. CONCLUSIONS: Nasolacrimal duct obstruction in ectrodactyly-ectodermal dysplasia-cleft syndrome is usually caused by dysplasia of the nasolacrimal duct and accompanied by dysplasia of lacrimal punctum and canaliculus. Providing proper care for nasolacrimal duct obstruction in ectrodactyly-ectodermal dysplasia-cleft syndrome is important. Furthermore, the high failure rate should be considered.

Síndrome de ectrodactilia, displasia ectodérmica y fisura de labio/paladar, informe de un caso con expresividad variable / Ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome, report of a case with variable expressivity

El síndrome ectrodactilia, displasia ectodérmica y fisura de labio/paladar es una entidad poco frecuente, asociada a la mutación de genes que codifican la proteína p63. Presentamos un caso de un paciente con ectrodactilia en el pie derecho asociada a labio y paladar fisurados, sin otras alteraciones evidentes, con antecedente familiar de labio con paladar fisurado y muerte en el período perinatal. El manejo de cada caso de este síndrome debe ser específico y multidisciplinario.

The ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome is a rare entity associated with mutations in the genes that express the protein p63. We present a case of a patient with right foot ectrodactyly associated with cleft lip and palate, without other evident anomalies. The patient has a positive familiar history for cleft lift and palate and mortality during the perinatal period. The management of each case must be specific and multidisciplinary.

Síndrome de ectrodactilia, displasia ectodérmica y labio-paladar hendidos / Syndrome of Ectrodactylism, ectodermic dysplasia and lip-cleft palate

El presente trabajo se propone reportar a un paciente masculino de 12 años de edad con presencia de la tríada completa del síndrome ectrodactilia, displasia ectodérmica y labio-paladar hendidos (EEC); señalar los hallazgos clínicos encontrados en las valoraciones, así como los tratamientos realizados. Es un síndrome autonómico dominante, con penetración incompleta y expresividad variable. Esta conjunción de signos y síntomas puede llevar a la confusión con otro tipo de entidades clínicas, y ocasionar un diagnóstico erróneo del paciente. La hendidura de labio y ausencia del conducto lagrimal no es una combinación usual en otras condiciones. Se hace mención de las manifestaciones clínicas reportadas en la literatura, y se enfatiza en las manifestaciones maxilofaciales y dentales. Los dos hermanos del paciente se consideraron normales o exentos de este síndrome(AU)

In present paper is reported the case of a patient presenting with the complete triad of Ectrodactylism syndrome, ectodermic dysplasia and lip-cleft palate, to mention the clinical findings present in assessments as well as the treatments applied. The syndrome is characterized by the triad Ectrodactylism, ectodermic dysplasia and cleft (EEC) and it is autosomal dominant with incomplete penetration and a variable expressiveness. This group of signs and symptoms may be cofounded with other clinical entities, leading to a mistake diagnosis of patient. Lip cleft and lack of lacrimal duct is not a usual combination in other conditions. This is the clinical case of a male patient aged 12 with the syndrome of: Ectrodactylism, ectodermic dysplasia and lip-cleft palate. Clinical manifestations reported in literature are mentioned emphasizing the maxillofacial and dental manifestations. The two brothers of patient were normal or free of this syndrome. It is very important that the professionals charged of oral and maxillofacial health, as well the Stomatology students of Bachelor degree of postgraduate level, be able to identify, diagnose and to work in a multidisciplinary way to arrive to definite diagnosis of patients presenting with EEC syndrome and to apply the appropriate treatments(AU)

A Case of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome

Ectrodactyly (lobster-claw hand or foot), ectodermal dysplasia and cleft lip or palate constitute a rare clinical syndrome of congenital anomalies, commonly called ectrodactyly- ectodermal dysplasia-clefting (EEC) syndrome. Clinical manifestations of EEC syndrome are variable. This disorder is transmitted by autosomal dominant inheritance and thought to be controlled by single gene. This patient is two month old female who has typical ectrodactyly or lobster-claw hand and foot and cleft palate compatible with EEC syndrome. A brief report of a case with review of literature is given.