A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report.

BACKGROUND: Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disease, characterized mainly by skin blistering at birth or shortly thereafter, progressive muscle weakness, and rarely by alopecia. EBS-MD is caused by mutations in the PLEC gene (OMIM *601282), which encodes plectin, a structural protein expressed in several tissues, including epithelia and muscle. We describe a patient affected with EBS-MD and diffuse alopecia in which we identified a novel pathogenic mutation by PCR amplification of all coding exons and exon-intron boundaries of PLEC gene, followed by bidirectional Sanger sequencing. CASE PRESENTATION: The patient, a 28-year-old female and only child of consanguineous healthy parents, was born after uneventful pregnancy. At 2 days of age, she developed skin and oral mucosal blistering, accompanied by voice hoarseness. On physical examination as an adult, we observed diffuse non-scarring alopecia on the scalp, onychodystrophy (pachyonychia) in all 20 nails, dental decay, mild dysphonia, and severe muscle atrophy mainly affecting the extremities. Neurological examination showed profoundly diminished reflexes. Mutation analysis revealed the patient to be homozygous for the novel PLEC nonsense mutation - c.7159G > T (p.Glu2387*) - located in exon 31. Thismutation predicts the lack of expression of the full-length plectin isoform. CONCLUSION: The present case appears to be the second association of EBS-MD with diffuse alopecia, both cases having different mutations involving PLEC exon 31. It remains to be elucidated whether diffuse alopecia results from PLEC mutations and/or from environmental factors.

Let Us Not Forget About Bleeding: A Case Report and Brief Literature Review on Hemorrhagic Vestibular Schwannoma.

Hemorrhagic vestibular schwannoma (HVS) consisting of acute intratumoral and subarachnoid hemorrhage is a rare phenomenon. We present the case of a 31-year-old woman who attended the Otorhinolaryngology department with right-sided intense tinnitus, dizziness, imbalance, and headache. Brain computed tomography revealed a spontaneous hyperdensity in the posterior fossa with marked deformation of the brainstem, middle cerebral peduncle, and cerebellum, with the near collapse of the fourth ventricle. Ophthalmology evaluation confirmed bilateral papilledema. Brain magnetic resonance imaging confirmed a voluminous 33 x 28 x 29 mm extra-axial lesion centered on the right pontine-cerebellar angle cistern, extending from the plane of the trigeminal nerve/tent of the cerebellum. The acoustic pore was enlarged. The patient underwent retrosigmoid craniotomy and microscopic tumor resection showing significant improvement in the follow-up. Pathological findings confirmed HVS. Delayed treatment of HVS can increase morbidity or even be fatal. The objective of this work is to describe and revise HVS, in order to bring awareness to this uncommon entity.

DOOR syndrome: A case report and its embryological basis.

DOOR syndrome is an extremely rare genetic disorder. "DOOR″ is an acronym to describe the combination of: deafness, onychodystrophy, osteodystrophy and mental retardation. We present a patient, with all of the above-mentioned main symptoms, that was rehabilitated with convencional hearing aids. The presented case suggested that every case of deafness and abnormal nails and phalanges in the hands and feet should have a clinical diagnosis of possible DOOR syndrome. Based on embryological process, congenital abnormal nails or phalanges highlights the importance for detailed hearing screening.

Behavioral Profile of Children With Vocal Fold Nodules-A Case-control Study.

OBJECTIVES: The aim of this case-control study was to evaluate the overall behavior of children with vocal fold nodules (VNs). METHODS: The study group included children with VNs between 4 and 15 years old diagnosed using fiberoptic video laryngoscopy with stroboscopy in a tertiary university hospital. As a control group, children between 4 and 13 years old without VNs, routinely followed up in a primary care facility, were included in the study. Parents of the participants completed the parent-proxy strengths and difficulties questionnaire (SDQ), a brief behavioral screening questionnaire designed for children. The SDQ evaluates emotional, conduct, and peer problems, and also focuses on hyperactivity and prosocial behavior. Children are classified into "normal," "borderline," or "abnormal" according to the total SDQ score. RESULTS: Twenty-seven children (24 boys and 3 girls) with VNs and 41 controls (33 boys and 8 girls) were enrolled in the study. The two groups did not differ significantly in age or gender (P > 0.05). Statistical analysis revealed that 52% individuals of the VNs group presents borderline or abnormal overall behavioral, which is statistically different from the general population (P < 0.001). Total, hyperactivity, and prosocial SDQ subscales were statistically different between study groups (P < 0.05). CONCLUSIONS: Our findings suggest association between VNs and hyperactivity and also with poorer prosocial behaviors in children for the first time. We propose that every child with VNs must be evaluated from a behavioral point of view to detect and to treat potential underlying psychological conditions that may interfere with VNs treatment and prognosis.