The multidisciplinary management of children with oral cleft determinated good results, in terms of satisfaction and aesthetic appearance. From our experience, periosteoplasty and lip-adhesion are key surgical techniques.
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is due to heterozygous FOXL2 intragenic mutations in about 70% of the patients, whereas total or partial gene deletions account for a minority of cases. Alteration of FOXL2 regulatory elements has been rarely described in patients with BPES. In this study, a prepubertal girl with BPES due to a 197-kb de novo deletion of the regulatory elements upstream of FOXL2 is reported. This girl presented with additional clinical features such as a soft cleft palate and microcephaly; thus, this copy number variant might have other somatic effects. The present deletion encompasses 2 coding genes (MRPS22 and COPB2), whose homozygous mutations have been associated with microcephaly. In our case, the sequences of the non-deleted allele were normal, ruling out a compound genetic defect. Normal levels of new biomarkers of ovarian reserve (anti-müllerian hormone, inhibin B) likely indicate an early diagnosis of type 2 BPES, but an evolutive gonadal damage will be excluded only by long-term follow-up. Additional reports of microdeletions upstream of FOXL2 are needed to better define the underlying genetic mechanism and the related phenotypic spectrum; the ability of the new hormonal markers to predict ovarian function in adolescence and adulthood should be confirmed.
Primary malignant melanoma involving the nasal and paranasal sinus mucosa is a rare neoplasm, accounting for less than 1% of all melanomas. Being more aggressive than its cutaneous counterpart, it carries a poor prognosis. We report a case arising from the nasal septum mucosae in a 78-year-old man. We describe clinical features, diagnosis, and treatment of this rare disease along with a review of the pertinent literature. Endoscopic resection of the neoplasm was performed, enabling diagnosis of sinonasal mucosal melanoma involving the frontal sinus floor. Because the patient was too compromised to achieve radical surgical approach (craniofacial resection), he underwent radiation therapy. Through this article, we wish to emphasize that early diagnosis with a high index of suspicion is critical because this type of tumor is extremely aggressive. Its location and relatively nonspecific features frequently delay diagnosis, and its rarity avoids an optimal treatment guideline setting.
The authors present a clinical report of deforming mucocutaneous leishmaniasis of the nose in a native American woman, left untreated for 25 years. The nose was reconstructed using the local tissue displaced as flaps, and using cartilage grafts taken from the nasal septum and the ear shell. To the best of the authors' knowledge, the literature offers just 1 report on a similar patient.
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