Epidermolysis bullosa (EB) is an inherited mechano-bullous disorder of the skin, and is divided into three major categories: EB simplex (EBS), dystrophic EB, and junctional EB (JEB). Mutations in the plectin gene (PLEC1) cause EBS associated with muscular dystrophy, whereas JEB associated with pyloric atresia (PA) results from mutations in the alpha6 and beta4 integrin genes. In this study, we examined three EB patients associated with PA from two distinct families. Electron microscopy detected blister formation within the basal keratinocytes leading to the diagnosis of EBS. Surprisingly, immunohistochemical studies using monoclonal antibodies to a range of basement membrane proteins showed that the expression of plectin was absent or markedly attenuated. Sequence analysis demonstrated four novel PLEC1 mutations. One proband was a compound heterozygote for a nonsense mutation of Q305X and a splice-site mutation of 1344G-->A. An exon-trapping experiment suggested that the splice-site mutation induced aberrant splicing of the gene. The second proband harbored a heterozygous maternal nonsense mutation, Q2538X and homozygous nonsense mutations R1189X. Analysis of the intragenic polymorphisms of PLEC1 suggested that R1189X mutations were due to paternal segmental uniparental isodisomy. These results indicate that PLEC1 is a possible causative gene in this clinical subtype, EBS associated with PA. Furthermore, two patients out of our three cases died in infancy. In terms of clinical prognosis, this novel subtype is the lethal variant in the EBS category.

A substantial number of patients with coronal synostosis who undergo frontoorbital advancement still require additional surgical treatment to correct increased intracranial pressure or unsatisfactory craniofacial structure. However, frontoorbital advancement currently requires elevation of the frontal as well as the orbital bone, which can result in a fragile dura mater and partial resorption of the advanced bone. Thus the dura is easily torn by dissection and the advanced bone is further resorbed and deformed during repeated craniofacial operations. To avoid these drawbacks and to create an easier second surgical treatment via the intracranial approach, a new technique for frontoorbital advancement is presented. In this technique frontoorbital bone is advanced as a single unit, without elevation from the underlying dura, by means of gradual distraction. The details of the technique and an illustrative case are reported.

A major disadvantage of free radial forearm flaps is the conspicuous donor site. However, there have been few studies on donor scars. The authors evaluated the donor site in patients who underwent oral-floor reconstruction with a free radial forearm flap. The subjects were 23 patients (19 males and four females) who underwent reconstruction with a free radial forearm flap following resection of a malignant oral tumor, and were followed for 1 year or longer. The fasciocutaneous flap collection site was closed by full-thickness skin graft (FTSG) from the groin with tie-over dressing. All grafts took perfectly. At the scar at the donor site, five items (pigmentation, scar width, depression, wrist mobility, and sensory abnormalities) were evaluated. Depression and pigmentation were often observed, but patient dissatisfaction was slight. While their main postoperative concern was the oral reconstruction site, after about 1 year, the donor site became more important to patients. However, the results were good. A 100 percent take of the FTSG at the donor site should produce good results. Surgeons should pay adequate attention not only to the outcome at the reconstruction site, but also to the closure of the donor site.

The speech outcome was studied retrospectively in 140 cleft-palate patients who underwent push-back palatoplasty. Velopharyngeal function and articulation disorders were evaluated serially at 4, 7, 10, and more than 10 years of age. On comparison of velopharyngeal function between 4 years of age and the most recent review (>10 years), it was unchanged in 90 patients (64.3 percent), whereas it showed deterioration in 14 patients and showed improvement in 8 patients. The other 28 patients underwent pharyngeal flap surgery; this group also included patients with functional deterioration. Changes of velopharyngeal function often occurred between 4 and 7 years of age but sometimes occurred after 10 years of age. Articulation disorders were observed in 49 subjects (35.0 percent) at 4 years of age. Many of the patients with glottal stop showed improvement from 4 to 7 years of age. Palatalized articulation showed less improvement than glottal stop (p < 0.01). The number of patients with articulation disorders decreased significantly between 4 years of age and the most recent review (p < 0.001). These findings suggest that speech does not become stable before 10 years of age and that patients with cleft palate should be carefully followed until they are beyond this age.