bromochloroacetic-acid and Cleft-Lip

To evaluate the role of keratinized mucosa around dental implants, correlating with other clinical parameters related to the success of dental implants.. Cross-section.. Institutional tertiary referral hospital.. A total of 202 dental implants fixed in the cleft area of 109 patients with cleft lip and/or palate were evaluated. Interventions: The evaluated clinical parameters were probing depth and gingival and plaque indexes on the buccal surface (three sites).. All clinical parameters were correlated with the width of keratinized mucosa around the implants.. The largest probing depths were detected when the width of keratinized mucosa was 2 mm or more, with a statistically significant difference between the means of the probing depth and keratinized mucosa width.. Even though the present results suggest that peri-implant health can be observed in areas with keratinized mucosa width under 2 mm provided an adequate oral hygiene control is performed, longitudinal randomized studies are necessary to analyze the relationship between the width of keratinized mucosa and the health of peri-implant tissues.

Topics: Adolescent; Adult; Cleft Lip; Cleft Palate; Cross-Sectional Studies; Dental Implants; Female; Homeostasis; Humans; Keratins; Male; Middle Aged; Mouth Mucosa

Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon and cleft lip and/or cleft palate. This constellation of clinical signs is unique, but some overlap can be recognized with other ectodermal dysplasia syndromes, for example ectrodactyly--ectodermal dysplasia--cleft lip/palate (EEC; OMIM 604292), limb--mammary syndrome (LMS; OMIM 603543), acro-dermato-ungual-lacrimal-tooth syndrome (ADULT; OMIM 103285) and recessive cleft lip/palate--ectodermal dysplasia (CLPED1; OMIM 225060). We have recently demonstrated that heterozygous mutations in the p63 gene are the major cause of EEC syndrome. Linkage studies suggest that the related LMS and ADULT syndromes are also caused by mutations in the p63 gene. Thus, it appears that p63 gene mutations have highly pleiotropic effects. We have analysed p63 in AEC syndrome patients and identified missense mutations in eight families. All mutations give rise to amino acid substitutions in the sterile alpha motif (SAM) domain, and are predicted to affect protein--protein interactions. In contrast, the vast majority of the mutations found in EEC syndrome are amino acid substitutions in the DNA-binding domain. Thus, a clear genotype--phenotype correlation can be recognized for EEC and AEC syndromes.

Topics: Abnormalities, Multiple; Amino Acid Sequence; Ankylosis; Base Sequence; Binding Sites; Blepharitis; Child; Cleft Lip; Cleft Palate; DNA; DNA Mutational Analysis; DNA-Binding Proteins; Female; Filaggrin Proteins; Genes, Tumor Suppressor; Heterozygote; Humans; Immunohistochemistry; Intermediate Filament Proteins; Keratins; Male; Membrane Proteins; Molecular Sequence Data; Mutation, Missense; Phosphoproteins; Protein Structure, Tertiary; Sequence Alignment; Sequence Homology, Amino Acid; Skin; Syndrome; Trans-Activators; Transcription Factors; Tumor Suppressor Proteins

Several clinical syndromes are characterized by ectodermal dysplasia (ED) in association with clefting of the lip and/or palate. In these syndromes, alopecia is primarily due to abnormalities of the hair shaft associated with increased hair fragility. Scalp dermatitis is yet another peculiar finding, primarily seen in the ankyloblepharon-ED-clefting (AEC) syndrome. We report on a 16-year-old patient with ectrodactyly-ED-clefting (EEC) syndrome, who exhibited a scarring alopecia due to deep folliculitis. On scanning electron microscopy, irregular torsion and longitudinal grooving of the hair shaft (pili torti et canaliculi) were observed. Quantitative determinations of the elastic and viscous parameters of hair demonstrated a normal viscosity but a significantly reduced hair elasticity, indicating either an abnormal composition or a disordered arrangement of microfibrils within the apparently normal keratin matrix. In contrast to the erosive scalp dermatitis of early onset in the AEC syndrome, alopecia in this case of EEC syndrome demonstrated follicular scarring with onset during puberty. We question a possible role of the anatomical hair abnormality in the pathogenesis of chronic deep folliculitis in this and clinically related syndromes.

Topics: Adolescent; Alopecia; Biophysical Phenomena; Biophysics; Cicatrix; Cleft Lip; Cleft Palate; Dermatomycoses; Ectodermal Dysplasia; Elasticity; Fingers; Folliculitis; Hair; Humans; Keratins; Malassezia; Male; Microscopy, Electron, Scanning; Puberty; Scalp Dermatoses; Staphylococcal Skin Infections; Syndrome; Viscosity

Human skin explants obtained from 2 to 5-year-old patients with harelips were cultured in NCTC 168 medium at 37 degrees C, in a humidified atmosphere of 5% CO2 in air. After a 2-week incubation period, plasma membranes of the newly grown cells were characterized by freeze-fracture electron microscopy. Desmosomal diameter in cultured keratinocytes was much smaller, ranging from 0.08 to 0.19 micron, than that in vivo, where it ranged from 0.3 to 0.7 micron in diameter. On the E-face of the plasma membranes, attached to the bottom of the culture dish, small particle aggregations were observed. These were thought to be half-desmosomes, each consisting of 10 to 30 particles. Small gap junctions were also observed. These ranged in size from 0.05 to 0.1 micron in diameter. Membranous structures were found adhering to the plasma membrane from the intercellular spaces. These membranous structures may be lipid vesicles, since they are similar in freeze-fracture electron-microscopic features to lamellar lipid structures seen in the intercellular spaces of horny cells in vivo.

Topics: Cell Membrane; Cells, Cultured; Child, Preschool; Cleft Lip; Desmosomes; Freeze Fracturing; Humans; Intercellular Junctions; Keratins; Male; Microscopy, Electron; Skin

Topics: Abnormalities, Multiple; Adult; Cleft Lip; Congenital Abnormalities; Cysts; Epithelium; Face; Humans; Keratins; Lip; Male; Sebaceous Glands