Cleft Lip and Palate in Ectodermal Dysplasia

Abstract

Objective: Ectodermal dysplasia (ED) comprises multiple syndromes that affect skin, hair, nails, and teeth, and sometimes are associated with orofacial clefting. The purpose of this study is to (1) identify the prevalence and characteristics of cleft lip and/or palate (CL/P) in patients with ED and (2) describe the management and outcomes. Design: Retrospective review from 1990 to 2019. Patients: All patients with ED treated at Boston Children's Hospital. Main Outcomes Measures: Prevalence of CL/P was calculated and clinical details recorded: phenotypic anomalies, cleft type, operative treatment, and results of repair. Results: Of 170 patients with a purported diagnosis of ED, 24 (14%) had CL/P. Anatomic categories were bilateral CL/P (67%), unilateral CL/P (8%), and cleft palate only (25%). The most common ED syndrome (37%) was ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC). Pathogenic variants in TP63 were the most frequent finding in the 11 patients who had genetic testing. Aberrations from a typical clinical course included failure of presurgical dentofacial orthopedics, dehiscence of nasolabial adhesion, and total palatal absence requiring free-flap construction. Two patients had prolonged postoperative admission for respiratory infection. High fistula (8%) and velopharyngeal insufficiency (33%) rates reflected the predominance of bilateral complete forms. Conclusions: As in other types of syndromic CL/P, cleft phenotypic expression in ED is more severe than the general cleft population. Further studies are needed to correlate genotype and phenotype for the distinct syndromes included in the ED spectrum.

Reconstruction sequence and microsurgery in ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome: a case report

“…Maxillary hypoplasia is found as a consequence of ectodermal dysplasia, especially due to dental alterations which make orthodontic and orthognathic procedures difficult. 12 Other frequently encountered findings are alterations in the lacrimal tract that can lead to corneal ulceration, keratitis, blepharitis, blindness, alterations of the genital tract and hearing loss. 13 For cleft lip/palate correction, complications may occur more frequently due to the multiple factors that affect the oral cavity, such as decreased salivation, missing teeth, and cavities intensified by the absence of enamel.…”

Fisura Labio Palatina. Revisión de la Literatura

“…A través de un estudio retrospectivo del historial clínico de 1381de individuos, Rao et al (2021 encontraron una prevalencia significativamente mayor de cardiopatías congénitas en conjunto con la fisura palatina y labio fisurado. Por otra parte, Ganske et al (2021) a través de un estudio retrospectivo en pacientes con displasia ectodérmica, encontraron una prevalencia de fisura labio palatina en dicho grupo de un 14 %.…”

Prosthetic rehabilitation of a patient with ectrodactyly‐ectodermal dysplasia‐cleft lip/palate syndrome through a hybrid workflow: A case report with 2‐year follow‐up

“…Ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome is a rare genetic disorder inherited as an autosomal dominant trait, which can also occur sporadically. 1 It is most often caused by missense mutations in p63 gene EEC syndrome involves both ectodermal and mesodermal tissues to show variable manifestations. 6 The three cardinal signs of the syndrome are ectrodactyly and syndactyly of the hands and feet, cleft lip with or without cleft palate (that can result in speech defects), and abnormalities affecting several ectodermal structures including skin (i.e., hypopigmentated and dry skin, hyperkeratosis, skin atrophy), hair (i.e., fine and sparse hair and eyebrows), teeth (small, absent, or dysplastic teeth), nails (nail dystrophy), and exocrine glands (reduction/absence of sweat, sebaceous, and salivary glands).…”

“…Ectrodactyly‐ectodermal dysplasia‐cleft lip/palate (EEC) syndrome is a rare genetic disorder inherited as an autosomal dominant trait, which can also occur sporadically 1 . It is most often caused by missense mutations in p63 gene located on the long arm of chromosome 3 (3q27) 2–4 .…”