Effect of lip adhesion on maxillary arch alignment and reduction of a cleft's width before definitive cheilognathoplasty in unilateral and bilateral complete cleft lip.

High tension and tissue dislocation caused by wide maxillary clefts could prevent an optimal aesthetic and functional outcome in primary cheilognathoplasty. Many surgical techniques or conservative (orthodontic and orthopaedic) devices have been proposed for the initial management of infants with complete cleft lip and palate to achieve a tension-free repair of the lip. Adhesion converts a wide unilateral complete cleft into a lesser deformity anatomically similar to an incomplete cleft lip. This study aimed to measure the effect of lip adhesion on the width of maxillary clefts. Between 2000 and 2007 lip adhesion was used on 49 consecutive infants affected by complete unilateral (n = 35) and bilateral (n = 14) cleft lip and palate. The indication for lip adhesion was the presence of a wide alveolar cleft (gap > 7 mm) with severely malpositioned maxillary segments. Lip adhesion was done at about 48 days, followed by definitive cheilognathoplasty at 98 days. Photographs and impressions were obtained before any operation. The width of the maxillary clefts was reduced by 60% in unilateral clefts and 61% in bilateral clefts. By converting a complete wide cleft lip to an incomplete cleft in both unilateral and bilateral clefts, adhesion of the lip achieved a better position and stabilised the arch in a symmetrical platform that eased both definitive closure of the defect in the lip and the restoration of the maxillary gap by periosteoplasty during definitive cheilognathoplasty.

Bone regeneration and periosteoplasty: a 250-year-long history.

BACKGROUND: Since antiquity, many attempts have been carried out and a number of theories proposed to explain the process that leads to bone regeneration. Through manifold experiments, several authors tried to understand and subsequently to control the physiological events that enable bone healing. Between the 18th and 19th centuries something changed. Although the scientific world was initially skeptical, a new idea emerged in the field of bone surgery. It principally concerned the necessity to perform amputations and resections leaving intact the periosteum to obtain new bone formation. MATERIALS AND METHODS: With this article we emphasize the contribution of many authors in the development of knowledge about the osteogenic properties of the periosteum. In particular we focus on the experiences of unknown Italian authors Michele Troja and Bernardino Larghi, consider well-recognized scientific personalities such as Leopold Ollier and Bernhard von Langenbeck, and reach a milestone of plastic surgery with Tord Skoog and his description of periosteoplasty. CONCLUSION: Various surgical approaches have been proposed to provide optimal care for patients with cleft lip and palate disorders. Among several treatment options, periosteoplasty is one of the choices to correct maxillary clefts. Highlighting difficulties and successes of many authors in demonstrating osteogenic properties of periosteum, this paper describes how periosteoplasty performed in maxillary cleft restoration capitalizes on what has been discovered during a 250-year-long history.

Merkel cell carcinoma of the lower extremity: report of four cases and new considerations.

Merkel cell carcinoma (MCC) is a rare neuroendocrine cutaneous malignancy that predominantly arises in the head and neck region. We describe clinical features, diagnosis, and treatment in 4 cases of MCC, presenting an uncommon female predominant occurrence and an unusual primary site: the lower limb. In all cases diagnosis was established by histopathologic examination. Primary MCC and locally recurrence disease were treated in all patients with a wide surgical excision (3-cm margin) including fascia. Lymphadenectomy was reserved for a patient with clinical evidence of nodal involvement. Both chemotherapy administered in 2 cases and radiotherapy in 1 case produced limited responses. Early diagnosis is critical because this tumor is aggressive and has a high rate of local recurrence and metastatic spread. However, its nondistinctive appearance frequently delays diagnosis and its rarity avoids an optimal treatment guideline setting.

Dystrophic-like alterations characterize orbicularis oris and palatopharyngeal muscles in patients affected by cleft lip and palate.

OBJECTIVE: This study analyzed histological and histochemical features of specimens of the orbicularis oris muscle, and palatal and pharyngeal muscles biopsied during surgery from 33 patients affected by cleft lip and palate. DESIGN: Three groups were studied: 20 patients affected by cleft palate with or without cleft lip (at the time of primary palatoplasty), seven by cleft lip with or without cleft palate (primary lip closure), and six by cleft lip with or without cleft palate (secondary cheiloplasty). Muscle sections were stained with hematoxylin-eosin, modified Gomori trichrome, ATPase reaction at pH 9.4, and NADH-TR. Analyzed parameters included organization, muscle fiber size and type, nuclear changes, presence of ragged-red fibers, degree of fibrosis, and presence of inflammatory infiltrate. RESULTS: In all patients who underwent primary palatoplasty and lip closure we noted dystrophic-like alterations of orbicularis oris and palatopharyngeal muscles, such as variability of fiber size, fiber disorganization, and increased fibrosis. The same alterations were found in adult patients submitted to secondary cheiloplasty, notwithstanding surgical repair. Furthermore, in all groups neither neurogenic atrophy nor ragged-red fibers or inflammatory infiltrate were detected. CONCLUSIONS: Muscle damage is a constant event in this deformity, and it could play an important role in its etiopathogenesis. Muscular biopsy during cheiloplasty and palatoplasty could offer useful information about muscle condition and possible functional recovery in cleft lip and palate patients.

Cystathionine beta-synthase c.844ins68 gene variant and non-syndromic cleft lip and palate.

Non-syndromic cleft lip with or without cleft palate (CL/P) is a common birth defect with substantial clinical and social impact and whose causes include both genetic and environmental factors. Folate and homocysteine (Hcy) metabolism have been indicated to play a role in the etiology of CL/P, and polymorphisms in folate and Hcy genes may act as susceptibility factors. We investigated a common polymorphism in the cystathionine beta-synthase (CBS) gene (c.844ins68) in 134 Italian CL/P cases and their parents using the transmission disequilibrium test (TDT). Although no overall linkage disequilibrium was observed, considering the parent-of-origin transmission of the CBS 68 bp insertion a significant (P = 0.002) transmission distortion was detected. When children receive the c.844ins68 allele from the mother compared to the father, they show a 18.7-fold increase in risk for CL/P. This evidence suggests CBS as a candidate gene for CL/P and supports a role of maternal-embryo interactions in the etiology of CL/P.

Genetic analysis of TTF-2 gene in children with congenital hypothyroidism and cleft palate, congenital hypothyroidism, or isolated cleft palate.

Homozygous null mice for thyroid transcription factor (TTF)-2 gene exhibit cleft palate and thyroid malformation. We performed a genetic analysis of the TTF-2 gene in 2 children with congenital hypothyroidism (CH) and cleft palate, 45 children with thyroid dysgenesis, 19 children with isolated cleft palate or cleft lip, 4 patients with thyroid hemiagenesis. The entire coding-region of the TTF-2 gene was analyzed by direct sequencing. Direct sequencing of the TTF-2 gene revealed polymorphisms in the length of the polyalanine tract. The most frequent stretch length was 14 residues and it was found in 50 of 70 (71%) and in 45 of 53 (85%) normal healthy controls. A polyalanine tract of 16 residues in the heterozygous state was seen in 18 of 70 (26%) cases and in 4 of 53 (7%) normal subjects. In 1 of 4 (25%) case of hemiagenesis a polyalanine tract of 16 residues in the homozygous state was observed. In 1 of 26 agenesis the polyalanine tract consisted of 12 residues in the heterozygous state. Direct sequencing also revealed the presence of two silent polymorphisms. No mutations were identified in the TTF-2 gene. In conclusion, our results show that no genetic alteration was present in the TTF-2 gene of these patients, suggesting that defects in the TTF-2 gene are a rare event.