Incontinentia pigmenti is a rare genodermatosis in which the skin involvement occurs in all patients. Additionally, other ectodermal tissues may be affected, such as the central nervous system, eyes, hair, nails and teeth. The disease has a X-linked dominant inheritance pattern and is usually lethal to male fetuses. The dermatological findings occur in four successive phases, following the lines of Blaschko: First phase - vesicles on an erythematous base; second phase - verrucous hyperkeratotic lesions; third phase - hyperchromic spots and fourth phase - hypochromic atrophic lesions.

These findings reinforce the heterogeneity of dermatologic findings and the numerous extracutaneous manifestations requiring a multidisciplinary approach. The follow-up of patients with IP is important in the detection of serious associated diseases. The relationships between these disorders and IP raise the need for additional longitudinal studies with longterm monitoring of these patients. The management of IP in clinical practice may benefit from early efforts to detect associated diseases.

Incontinentia Pigmenti (IP) is an X-linked rare genodermatosis caused by mutations in the IKBKG gene, which is essential to NF-κB pathway activation and thus fundamental for cell survival. Our objective was to study the intrafamilial clinical variability in IP by investigating how the signs of IP, and especially dental anomalies, vary within affected families. Four families, encompassing a total of 15 IP familial cases, were included in the study. The patients were subjected to clinical examination and collection of family histories for assessment of intrafamilial clinical variability. All familial cases carried the IKBKGdel recurrent deletion. A noticeable intrafamilial clinical variability was observed in all studied families, with mild and severe cases co-occurring within a same family. Additionally, to best of our knowledge, our study was the first to address the variability of dental defects within IP families, and here too, our results reveal remarkable differences among affected relatives. A number of as yet unidentified genes might act as modifiers, influencing disease expressivity. Our study found important clinical variability within four IP families and contributes to the understanding of the genetic background involved in IP expressivity.

a b s t r a c tPurpose: The aim of this study was to evaluate the skeletal characteristics of patients with the rare genetic disease of Incontinentia Pigmenti, by lateral cephalometric analysis on the antero-posterior plane and by frontal cephalometric analysis on the horizontal plane.Methods: Lateral skeletal cephalometric analyses were performed according to Steiner for evaluation of antero-posterior direction, and frontal skeletal cephalometric analyses according to Ricketts for evaluation of horizontal direction in 9 patients with IP. Left and right facial widths at the level of the zygomatic arch were also evaluated. The Student t-test was used for paired to a 5% level of significance data.Results: The lateral skeletal cephalometric findings were not statistically significant, but the Class II was the most frequent finding (44.4%), followed by Class III (33.3%) and Class I (22.2%). The right maxillo-mandibular width was significantly lower than normal values, and the right facial width was significantly higher than the left, at the level of the zygomatic arch. Conclusions:Patients with IP showed more skeletal discrepancies of Class II and III than Class I malocclusion, and had significant horizontal facial skeletal asymmetries. This should alert health professionals to route these patients for orthodontic assessment and possible therapeutic interventions. However, larger samples are needed to better elucidate if these cephalometric findings can be specifically related to IP.

Warfarin is a synthetic oral anticoagulant that crosses the placenta and can lead to a number of congenital abnormalities known as fetal warfarin syndrome. Our aim is to report on the follow-up from birth to age 8 years of a patient with fetal warfarin syndrome. He presented significant respiratory dysfunction, as well as dental and speech and language complications. The patient was the second child of a mother who took warfarin during pregnancy due to a metallic heart valve. The patient had respiratory dysfunction at birth. On physical examination, he had a hypoplastic nose, pectus excavatum, and clubbing of the fingers. Nasal fibrobronchoscopy showed upper airway obstruction due to narrowing of the nasal cavities. He underwent surgical correction with Max Pereira graft, zetaplasty, and osteotomies for the piriform aperture. At dental evaluation, he had caries and delayed eruption of the upper incisors. Speech and language assessment revealed high palate, mouth breathing, little nasal patency, and shortened upper lip. Auditory long latency and cognitive-related potential to auditory stimuli demonstrated functional changes in the cortical auditory pathways. We believe that the frequency of certain findings observed in our patient may be higher in fetal warfarin syndrome than is appreciated, since a significant number result in abortions, stillbirths, or children evaluated in the first year of life without a follow-up. Thus, a multidisciplinary approach and long-term monitoring of these patients may be necessary.

No abstract

No abstract

Introduction: Birth defects are structural or functional changes that occur during intrauterine life. The dentist must recognize the craniofacial defects, complement the phenotypic characterization and manage them within a multidisciplinary team. The present review aims to assist the dentist to diagnose these findings and present syndromic conditions typically associated with craniofacial malformations Literature Review: Craniofacial manifestations of birth defects are conditions that must be recognized by dentists, as they are frequently present in their daily practices, and this professional may be the first to identify such findings. The main syndromic clinical pictures typically associated with micrognathia, oral clefts and skeletal dysplasias with craniofacial manifestation are presented, pointing out their clinical and genetic features. Discussion: The dentist must perform a detailed anamnesis including family history, as well as should recognize both clinical and radiographically the dysmorphisms, observing the patient systemically. Conclusion: Dentistry professionals should receive theoretical-practical training for the diagnosis, treatment and surveillance of individuals with congenital defects, either in individual assessment or as part of a multiprofessional team.