Aplasia cutis congenita (ACC) is a part of a heterogeneous group of conditions characterized by the congenital absence of epidermis, dermis, and in some cases, subcutaneous tissues or bone usually involving the scalp vertex. There is an estimated incidence of 3 in 10,000 births resulting in a total number of 500 reported cases to date. The lesions may occur on every body surface although localized scalp lesions form the most frequent pattern (70%). Complete aplasia involving bone defects occurs in approximately 20% of cases. ACC can occur as an isolated defect or can be associated with a number of other congenital anomalies such as limb anomalies or embryologic malformations. In patients with large scalp and skull defects, there is increased risk of infection and bleeding along with increased mortality and therefore prompt and effective management is advised. We describe two cases of ACC, involving a 4 × 3 cm defect managed conservatively and a larger 10 × 5 cm defect managed surgically with the use of a temporo-occipital scalp flap. Both cases had an excellent outcome. Multiple treatment regimens exist for ACC, but there is no consensus on treatment strategies. Conservative treatment has been described and advocated, but many authors have emphasized the disadvantages of this treatment modality. Decision between conservative and surgical management must be individualized according to lesion size and location.

The long-term impact of neurotological symptoms after a temporal bone fracture (TBF), including facial nerve palsy (FP), hearing loss, tinnitus, and dizziness on the quality of life of patients is often underevaluated. Thus, we retrospectively assessed 30 patients with TBF (26 men and 4 women) in our university tertiary referral center. They participated from injury onset to the final follow-up, over an 18-month period. Quality of life was estimated using validated questionnaires, such as the Facial Disability Index (FDI: physical and social), Hearing Handicap Inventory (HHI), Tinnitus Handicap Inventory (THI), and Dizziness Handicap Inventory (DHI). The FDI score was significantly worse in patients with severe initial (for physical FDI) and final facial palsy (for both physical and social FDI), mainly with immediate onset. The HHI score was statistically worse in patients with mixed hearing loss compared to those with conductive or sensorineural hearing loss and in those with profound hearing loss vs. normal hearing. The mixed TBF and the severity of hearing loss (especially profound hearing loss) were correlated with HHI, THI and DHI score values. In the long-term period after a TBF, moderate or severe facial palsy, mainly with immediate onset, may cause psychological distress, more easily resulting in social disability than functional impairment. Mixed TBF and mixed or profound hearing loss may also negatively influence quality of life.

Intraorbital Expansion of an Intradiploic Frontal Epidermoid Cyst: A Case Report and Short Review of the Literature - Article abstract #931615

Central nervous system (CNS) tumors are the most common solid malignancy in the pediatric population. These lesions are the result of the aberrant cell signaling step proteins, which normally regulate cell proliferation. Mitogen-activated protein kinase (MAPK) pathways and tyrosine kinase receptors are involved in tumorigenesis of low-grade gliomas. High-grade gliomas may carry similar mutations, but loss of epigenetic control is the dominant molecular event; it can occur either due to histone mutations or inappropriate binding or unbinding of DNA on histones. Therefore, despite the absence of genetic alteration in the classic oncogenes or tumor suppressor genes, uncontrolled transcription results in tumorigenesis. Isocitric dehydrogenase (IDH) mutations do not predominate compared to their adult counterpart. Embryonic tumors include medulloblastomas, which bear mutations of transcription-regulating pathways, such as wingless-related integration sites or sonic hedgehog pathways. They may also relate to high expression of Myc family genes. Atypical teratoid rhabdoid tumors harbor alterations of molecules that contribute to ATP hydrolysis of chromatin. Embryonic tumors with multilayered rosettes are associated with microRNA mutations and impaired translation. Ependymomas exhibit great variability. As far as supratentorial lesions are concerned, the major events are mutations either of NFkB or Hippo pathways. Posterior fossa tumors are further divided into two types with different prognoses. Type A group is associated with mutations of DNA damage repair molecules. Lastly, germ cell tumors are a heterogeneous group. Among them, germinomas manifest KIT receptor mutations, a subgroup of the tyrosine kinase receptor family.

Intracranially Extended Sinonasal Undifferentiated Carcinoma: A Case Report and Literature Review - Article abstract #935876

Temporal bone fractures (TBF) represent 14–22% of cranial fractures. The temporal bone is the thickest bone in the body, requiring excessive force to fracture; a TBF may occur in fresh human cadavers, when the applied force to the lateral skull is about 6000–8000 Newtons (equivalent to 600–800 Kilograms-force), increasing the risk of neurovascular injury. Conventionally, TBFs are categorized into longitudinal, transverse, and mixed types, depending on the direction of the fracture line. The complications of TBF include facial nerve palsy (FP), audiovestibular dyfunction, and cerebrospinal fluid (CSF) leak. All these sequels of TBFs may adversely affect the quality of life (QOL) with a psychological, emotional, and social impact. To our knowledge, the number of studies referring to QOL in patients suffering from TBF are very restricted. In this chapter, we elaborate on patient-assessed outcomes following TBF in relation to audiovestibular symptoms, apart from FP in adjunct with neurophysiological tests. Our aim to describe their impact on patients’ QoL.