A child with EEC syndrome — a 10 years follow-up

Abstract

<jats:title>Abstract</jats:title><jats:p>Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is a rare congenital disease, occurring in 7 per 10,000 live newborns. It runs in families as an inherited autosomal dominant; it can also occur spontaneously as a point missense mutation in the DNA-binding domain of the p63 transcription factor (TP63) gene. Clinical diagnosis of a complete EEC syndrome involves a patient who presents with ectrodactyly, ectodermal dysplasia, and cleft lip and/or palate. This paper presents outcome of 10 years of interdisciplinary therapy for an EEC child with special consideration of the facial presentation of the disease. The management of cases of EEC syndrome requires multidisciplinary action because of the great variability in clinical expression. In an individual patient, treatment should be based on clinical findings and symptoms. Early interdisciplinary therapy will allow a patient with EEC syndrome to reinstate oral functions, satisfactory appearance, and social integration.</jats:p>

Orthodontic and dentofacial orthopedic treatments in patients with ectodermal dysplasia: a systematic review

“…The median percentage of "Yes" answers for case reports was 87.5%, and 22 studies were considered of quality [ 14 – 16 , 41 – 43 , 45 , 46 , 48 – 51 , 54 , 56 , 57 , 59 , 61 – 64 , 66 ], while five did not meet the quality criterion [ 44 , 47 , 52 , 53 , 55 ]. The median value for case series was 80%: two articles were considered of quality [ 58 , 60 ], and one was not [ 65 ] (Table 1 ).…”

“…Most patients had hypohidrotic and/or anhidrotic ED [ 14 , 15 , 43 , 45 , 46 , 48 , 49 , 53 , 56 , 57 , 59 , 60 , 62 ], specifically X-linked in two studies [ 43 , 60 ]. In one study [ 50 ], the patient had Wiktop syndrome (ORPHA:2228; ICD-10: Q82.4; OMIM:189500).…”

“…[ 52 ] # 6/8 75.0% 1/8 12.5% 1/8 12.5% – Machorowska-Pieniążek et al . [ 53 ] # 6/8 75.0% – – 2/8 25.0% – Oblack et al . [ 66 ] 7/8 87.5% – – 1/8 12.5% – Priya et al .…”

Primary and secondary cleft palate – orthodontic management in early life based on the literature and our own experience

“…Zadaniem ortodonty na tym etapie rozwoju pacjenta jest pouczenie rodziców o zasadach karmienia, układania dziecka podczas snu i czuwania oraz wprowadzenie instruktażu higieny jamy ustnej i nosowej. Na szczególną uwagę u noworodków z RPPiW zasługuje higienizacja niepokrytej wargą, wysychającej kości przysiecznej (30). W tym postępowaniu zaleca się nawilżanie kości przysiecznej z użyciem sterylnych gazików zwilżonych przegotowaną wodą i stopniowe usuwanie złuszczających się nabłonków.…”

“…During this period, the orthodontist's task is to instruct the parents on the principles of feeding, positioning the child during sleep and wakefulness, and introducing instructions on oral and nasal hygiene. Hygienisation of the non-labial, drying premaxilla deserves special attention in neonates with P/SCP (30). As part of this management, it is recommended to moisten the premaxilla with sterile gauze soaked in boiled water and gradually remove the exfoliating epithelium.…”