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Facial clefting and oroauditory pathway manifestations in Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome

Department of Plastic Surgery, Baylor College of Medicine, Baylor College of Medicine, 6621 Fannin Street, Houston, TX 77030, USA.
American Journal of Medical Genetics Part A (Impact Factor: 2.05). 09/2009; 149A(9):1910-5. DOI: 10.1002/ajmg.a.32836
Source: PubMed

ABSTRACT Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) Syndrome is a rare disorder characterized by ectodermal dysplasia, along with other malformations such as cleft lip and palate, and various secondary issues such as chronic sinusitis, otitis media, and conductive hearing loss (CHL). The International Research Symposium for AEC Syndrome convened at Baylor College of Medicine in Houston, Texas. Patients with a suspected diagnosis of AEC syndrome attended, and members of the dental, dermatology, plastic surgery, otolaryngology, and audiology services examined each patient. Eighteen patients with a diagnosis of AEC were evaluated. Mean age was 7.5 years (range: 4 months-30 years). Fourteen of the 15 subjects tested (93.33%) demonstrated CHL, with seven showing moderate to severe hearing deficits (41-90 dB). Nine of 13 respondents reported hoarseness or voice problems; 8 were noted to display this on examination. Fourteen of 16 subjects reported speech was below average for age; 8 were in speech therapy. All 18 subjects reported a history of otitis externa or otitis media. Eleven of the subjects (61.11%) required myringotomy and pressure equalizing (PE) tubes. All patients demonstrated cleft palate defects. Of these, 16 (94.11%) presented with clefting of the soft palate, and 10 (58.82%) showed hard palate defects. Three subjects (16.67%) were noted to have submucous clefts. Our experience leads us to propose that while the oroauditory problems in those with AEC syndrome is likely multifactorial, many issues may stem from palatal clefting. Despite this, some abnormalities persist following surgical cleft closure, which indicates other complicating factors are also involved.

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    • "In the setting of ankyloblepharon and cleft lip/palate, these ectodermal defects are diagnostic of AEC syndrome. Any newborn with erythroderma and the presence of a cleft lip/ palate, which may not be easily identified as some have submucous clefts [see Cole et al., 2009] "
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    ABSTRACT: Hay-Wells syndrome, caused by mutations in the p63 gene, is an autosomal dominant ectodermal dysplasia with the main features of ankyloblepharon filiforme adnatum, ectodermal defects, and cleft lip/palate, from which the disorder's other name, AEC syndrome, is derived. The National Foundation for Ectodermal Dysplasias convened the International Research Symposium for AEC Syndrome on November 8-10, 2006, at Texas Children's Hospital/Baylor College of Medicine, Houston, TX with appropriate IRB approval. This multidisciplinary conference was the largest gathering of such patients to date and allowed us to further characterize dermatologic features of AEC syndrome, which included: sparse and wiry hair, nail changes, past or present scalp erosions, decreased sweat production, palmar/plantar changes, and unique pigmentary anomalies. Early recognition of the features of AEC syndrome and subsequent early diagnosis is important in minimizing invasive diagnostic studies, improving morbidity and mortality, and providing genetic counseling. Skin erosions, especially those of the scalp, were identified as the most challenging cutaneous aspect of this syndrome. Although the reasons for the skin erosions and poor healing are not known, mutations of p63 may lead to a diminished store of basal cells capable of replenishing the disrupted barrier. Therapeutic strategies currently under exploration include gene therapy, as well as epidermal stem cell therapy. Until then, gentle wound care and limiting further trauma seem to be the most prudent treatment modalities.
    American Journal of Medical Genetics Part A 09/2009; 149A(9):1900-6. DOI:10.1002/ajmg.a.32797 · 2.05 Impact Factor
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    • "Blood, hair and nail specimens were also obtained for mutational, microscopic and immunohistochemical evaluation, with these results also presented within this special section [see Rinne et al, Dishop et al, Koster et al, Beaudry et al, 2009 this issue]. gastroenterology [see Motil et al, 2009 this issue], otorhinolaryngology [see Cole et al, 2009 this issue], ophthalmology, plastic surgery, and psychiatry [see Lane et al, 2009 this issue] to obtain and document clinical history and physical examination findings prospectively. The patients also donated tissue samples, including blood, hair and skin biopsies [see Rinne et al, Dishop et al, Koster et al, Beaudry et al, 2009 this issue]. "
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    ABSTRACT: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (Hay-Wells syndrome, MIM #106220) is a rare autosomal dominant ectodermal dysplasia syndrome. It is due to mutations in the TP63 gene, known to be a regulatory gene with many downstream gene targets. TP63 is important in the differentiation and proliferation of the epidermis, as well as many other processes including limb and facial development. It is also known that mutations in TP63 lead to skin erosions. These erosions, especially on the scalp, are defining features of AEC syndrome and cause significant morbidity and mortality in these patients. It was this fact that led to the 2003 AEC Skin Erosion Workshop. That conference laid the groundwork for the International Research Symposium for AEC Syndrome held at Texas Children's Hospital in 2006. The conference brought together the largest cohort of individuals with AEC syndrome, along with a multitude of physicians and scientists. The overarching goals were to define the clinical and pathologic findings for improved diagnostic criteria, to obtain tissue samples for further study and to define future research directions. The symposium was successful in accomplishing these aims as detailed in this conference report. Following our report, we also present 11 manuscripts within this special section that outline the collective clinical, pathologic, and mutational data from 18 individuals enrolled in the concurrent Baylor College of Medicine IRB-approved protocol: Characterization of AEC syndrome. These collaborative findings will hopefully provide a stepping-stone to future translational projects of TP63 and TP63-related syndromes.
    American Journal of Medical Genetics Part A 09/2009; 149A(9):1885-93. DOI:10.1002/ajmg.a.32761 · 2.05 Impact Factor
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    ABSTRACT: Ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome are well-characterized clinical entities caused by mutations in the TP63 gene. While AEC and Rapp-Hodgkin had been thought to be clinically distinct entities, the elucidation of their molecular etiology confirmed that they are a clinical continuum as opposed to distinct disorders. We have evaluated 17 patients with AEC syndrome using a systematic clinical approach. In our study, we have identified new features and others that were thought to occur only rarely. These include short stature and poor weight gain with preservation of head circumference in nearly all subjects, trismus in 35% and hypospadias in 78% of males. In addition, we describe the frequency of phenotypic features and demonstrate the extreme clinical variability in the largest cohort of AEC individuals reported in the literature thus far.
    American Journal of Medical Genetics Part A 09/2009; 149A(9):1916-21. DOI:10.1002/ajmg.a.32791 · 2.05 Impact Factor
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