Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including genital anomalies (particularly hypospadias in males), congenital heart defects, agenesis of the corpus callosum, and eye defects. Since the first delineation by Mowat et al. [Mowat et al. (1998); J Med Genet 35:617-623], approximately 179 patients with ZEB2 mutations, deletions or cytogenetic abnormalities have been reported primarily from Europe, Australia and the United States. Genetic defects include chromosome 2q21-q23 microdeletions (or different chromosome rearrangements) in few patients, and ZEB2 mutations in most. We report on clinical and genetic data from 19 Italian patients, diagnosed within the last 5 years, including six previously published, and compare them with patients already reported. The main purpose of this review is to underline a highly consistent phenotype and to highlight the phenotypic evolution occurring with age, particularly of the facial characteristics. The prevalence of MWS is likely to be underestimated. Knowledge of the phenotypic spectrum of MWS and of its changing phenotype with age can improve the detection rate of this condition.

Mandibuloacral dysplasia type A (MADA) is characterized by growth retardation, postnatal onset of craniofacial anomalies with mandibular hypoplasia, progressive acral osteolysis, and skin changes including mottled pigmentation, skin atrophy, and lipodystrophy. Owing to its slowly progressive course, the syndrome has been recognized in adults, and pediatric case reports are scarce. We present the clinical case of two children in whom the diagnosis of MADA was made at an unusually early age. A 5-year-old boy presented with ocular proptosis, thin nose, and short and bulbous distal phalanges of fingers. A 4-year-old girl presented with round face and chubby cheeks, thin nose, bulbous fingertips, and type A lipodystrophy. In both, a skeletal survey showed wormian bones, thin clavicles, short distal phalanges of fingers and toes with acro-osteolysis. Both children were found to be homozygous for the recurrent missense mutation, c.1580G>A, (p.R527H) in exon 9 of the LMNA gene. Thus, the phenotype of MADA can be manifest in preschool age; diagnosis may be suggested by short and bulbous fingertips, facial features, and lipodystrophy, supported by the finding of acral osteolysis, and confirmed by mutation analysis.

Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant condition mainly characterized by the development of mandibular keratocysts which often have their onset during the second decade of life and/or multiple basal cell carcinoma (BCC) normally arising during the third decade. Cardiac and ovarian fibromas can be found. Patients with NBCCS develop the childhood brain malignancy medulloblastoma (now often called primitive neuro-ectodermal tumor [PNET]) in 5% of cases. The risk of other malignant neoplasms is not clearly increased, although lymphoma and meningioma can occur in this condition. Wilms tumor has been mentioned in the literature four times. We describe a patient with a 10.9 Mb 9q22.3 deletion spanning 9q22.2 through 9q31.1 that includes the entire codifying sequence of the gene PTCH1, with Wilms tumor, multiple neoplasms (lung, liver, mesenteric, gastric and renal leiomyomas, lung typical carcinoid tumor, adenomatoid tumor of the pleura) and a severe clinical presentation. We propose including leiomyomas among minor criteria of the NBCCS. 2894 INTRODUCTIONGorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS) also known as basal cell nevus syndrome (BCNS, OMIM #109400) is an autosomal dominant condition due to haploinsufficiency of PTCH1 and mainly characterized by the development of mandibular keratocysts which often have their onset during adolescence and/or multiple basal cell carcinomas normally arising after age 20 [Hahn et al., 1996;Evans and Farndon, 2002;Gorlin, 2004;Muzio et al., 2013]. Exonic, multiexonic, and whole-gene deletions have been reported in about 6% of individuals with NBCCS [Evans and Farndon, 2002]. The studies of disease prevalence come from the UK population, where it is nearer to 1:30,827 [Evans et al., 2010]; The actual figure could be higher still, since less severe cases may not be diagnosed and Jones et al. [2011] recently reported an incidence of 1 in 19,000 births.NBCCS is clinically diagnosed in patients with one major diagnostic criterion and molecular confirmation or two major criteria or one major and two minor diagnostic criteria [Bree et al., 2011]. The major criteria are the following: (1) BCC before the age of 20 or excessive numbers of BBCs out of proportion to prior sun exposure and skin type, (2) odontogenic jaw keratocyst prior to 20 years of age, (3) palmar or plantar pitting, (4) lamellar calcification of the falx cerebri, (5) medulloblastoma typically desmoplastic, and (6) first-degree relative with NBCCS. The minor criteria are the following: (1) rib anomalies, (2) other specific skeletal malformations and radiologic changes (i.e., vertebral anomalies, kyphoscoliosis, short fourth metacarpals, postaxial polydactyly), (3) macrocephaly, (4) cleft lip/palate, (5) ovarian/ cardiac fibromas, (6) lymphomesenteric cysts, and (7) ocular anomalies including the following: strabismus, hypertelorism, congenital cataract, glaucoma, coloboma.The typical facial phenotype includes macrocephaly, frontal bossing, coarse face ...

Objective: This report describes the fluorescence-aided composite removal during lingual bracket debonding with an ultraviolet light emitting diode flashlight. The purpose of this technique is to help clinicians in composite removal without enamel surface damage. Clinical considerations: The bracket debonding requires clinical attention in order to remove all composites and resins without enamel surface damage. Different protocols can be used in order to minimize the enamel damages and the excess bonding remnants. The fluorescence-aided composite removal permits to have an immediate visualization of the composites and adhesives, especially for the uneven lingual surfaces, of which the interindividual morphological variability is greater than the buccal surfaces. Conclusions: The fluorescence-aided composite removal during lingual brackets debonding minimizes the risks described in literature and it is an easier, more accurate, reliable, noninvasive, inexpensive, and time-saving method. Clinical significance: The application of this technique allows, with inexpensive flashlights, to remove all the composite on the lingual surfaces during debonding, without damaging the tooth and saving time.

Focal dermal hypoplasia (FDH; Goltz-Gorlin syndrome; OMIM 305600) is a disorder that features involvement of the skin, skeletal system, and eyes. It is caused by loss-of-function mutations in the PORCN gene. We report a young girl with FDH, microphthalmos associated with colobomatous orbital cyst, dural ectasia and cystic malformation of the spinal cord, and a de novo variant in PORCN. This association has not been previously reported, and based on these observations the phenotypic spectrum of FDH might be broader than previously appreciated. It would be prudent to alter the suggested surveillance for this rare disorder.

No abstract

Introduction\ud Focal dermal hypoplasia (Goltz-Gorlin syndrome) is a multi-system disorder characterized by involvement of skin, skeletal system, eyes and face. It is caused by loss-of-function mutations in the PORCN gene. We report the case of a young female, focusing on the dental features.\ud \ud Aim\ud To describe the oral manifestation of a rare disorder that resembles ectodermal dysplasia (ED).\ud \ud Case report\ud Clinical, radiological and genetic findings revealed common features of Goltz-Gorlin syndrome and pure ED. Oro-dental characteristics of the patient mostly corresponded to those described in the literature. However, previously unreported oro-dental findings such as taurodontism, peg-shaped teeth and microdontia are considered unusual for Goltz-Gorlin syndrome, but similar to the dental features of hypohidrotic ED. Clinical characterization of the patient by a multidisciplinary approach is described and a comprehensive review of the literature is presented

Background To compare the fluorescent properties of 6 different orthodontic adhesives and provide useful information for clinicians in the adhesion choice, in order to remove it easily at the end of orthodontic treatment by using the Fluorescence-aided Identification Technique (FIT). Methods Six orthodontic adhesives were included: Ortho Connect, Gradia LoFlo A3.5, Greengloo, Transbond XT, KommonBase Pink, and KommonBase Clear. The same thermoformed template with 1 mm shell thickness on the six anterior teeth was used for adhesive positioning; furthermore, an ultraviolet light-emitting diode flashlight was used for the FIT. The brightness of adhesive area and tooth area (L* color coordinate) were measured on the photographs by using the “color picker” tool of Photoshop software. Results GC Ortho Connect, Gradia Direct LoFlo and KommonBase Clear showed the highest differences of brightness (15.5, 16.3 and 13.5, respectively), while Greengloo, Transbond XT and KommonBase Pink registered similar values between resin area and tooth area with FIT (− 0.5, − 0.8 and − 1.0, respectively). The high viscosity adhesive resins, as Greengloo and Transbond XT, showed a similar performance in terms of fluorescence to the KommonBase Pink, the lowest viscous resin adhesive considered. Conclusions The most used orthodontic adhesives showed different fluorescence properties. Some resins were brighter with the FIT, facilitating identification and subsequent removal. Other orthodontic adhesives presented no difference between adhesive and tooth. The viscosity of orthodontic adhesives did not influence the brightness emitted with FIT.