Faculty Bibliography

Cushing's syndrome is a rare endocrine disorder that comprises a large group of signs and symptoms resulting from chronic exposure to excess corticosteroids. Most cases of Cushing's syndrome are due to increased adrenocorticotropic hormone production from a pituitary adenoma, which is referred to as Cushing's disease. Most of the signs and symptoms are nonspecific and common in the general population, making a diagnosis often challenging. However, several dermatological manifestations, such as fragile skin, easy bruising, and reddish purple striae, are more discriminatory. Because uncontrolled Cushing's syndrome of any etiology is associated with substantial morbidity, including increased cardiovascular disease and mortality, it is important to make an early diagnosis. Unfortunately, median delays of 2 years to diagnosis have been reported. We report a case of a woman who had multiple dermatological findings, including facial plethora, easy bruising, violaceous striae, hirsutism, and acne, the latter 2 signs reflecting androgen excess. Of interest, our patient presented with a chief complaint of hair loss, a common complaint in the general population that occurs with a greater frequency in patients with Cushing's disease and is attributed to androgenetic alopecia, but it is rarely the presenting symptom.

Matrilin-1 (Matn1), a cartilage-specific peri-cellular and extracellular matrix (ECM) protein, has been hypothesized to regulate ECM interactions and transmit mechanical signals in cartilage. Since Matn1 knock-out (Matn1-/-) mice exhibit a normal skeleton, its function in vivo is unclear. In this study, we found that the anabolic Acan and Col2a transcript levels were significantly higher in wildtype (Matn1+/+) mouse cartilage than that of MATN1-/- mice in vivo. However, such difference was not observed between Matn1+/+ and MATN1-/- chondrocytes cultured under stationary conditions in vitro. Cyclic loading significantly stimulated Acan and Col2a transcript levels in Matn1+/+ but not in MATN1-/- chondrocytes. This suggests that, while Matn1+/+ chondrocytes increase their anabolic gene expression in response to mechanical loading, the MATN1-/- chondrocytes fail to do so because of the deficiency in mechanotransduction. We also found that altered elastic modulus of cartilage matrix in Matn1-/- mice, suggesting the mechanotransduction has changed due to the deficiency of Matn1. To understand the impact of such deficiency on joint disease, mechanical loading was altered in vivo by destabilization of medial meniscus. While Matn1+/+ mice exhibited superficial fissures and clefts consistent with mechanical damage to the articular joint, Matn1-/- mice presented more severe cartilage lesions characterized by proteoglycan loss and disorganization of cells and ECM. This suggests that Matn1 deficiency affects pathogenesis of post-traumatic osteoarthritis by failing to up-regulate anabolic gene expression. This is the first demonstration of Matn1 function in vivo, which suggests its protective role in cartilage degeneration under altered mechanical environment.

BACKGROUND:The orbital roof forms part of the anterior skull base and is positioned for potential concomitant ophthalmologic and neurologic injury. Despite potential morbidity and mortality, orbital roof fractures have garnered little attention compared with orbital floor fractures. The authors' purpose is to review and describe key points when treating these fractures. METHODS:The authors reviewed 1171 consecutive patient at a trauma center with orbital or skull base fractures from 2009 to 2011. Patient demographics, mechanism of injury, associated injuries, treatment, outcomes, and complications were recorded. RESULTS:Among the 1171 patients, the authors identified 60 with an orbital roof fracture (5 percent). All were evaluated by plastic surgery, neurosurgery, and ophthalmology. Average age was 38.1 years, and the male-to-female ratio was 4:1. Frequent mechanisms of injury were fall (33 percent), followed by assault (25 percent). Concomitant craniofacial skeletal fractures were common (87 percent), as were ophthalmologic injuries (47 percent), and traumatic brain injury with intracranial hemorrhage (65 percent). Six patients (10 percent) required operative repair of the orbital roof, all of whom had a dural laceration and cerebrospinal fluid leak. Most patients (90 percent) had minimal displacement and no clinically evident cerebrospinal fluid leak and were treated with observation without complications. CONCLUSIONS:Orbital roof fractures are a less common but potentially serious craniofacial injury. Most can be safely observed; however, intracranial or intraorbital injury may warrant surgical intervention to remove impinging bony fragments, repair dura, or reconstruct the orbital roof. An interdisciplinary approach with plastic surgery, ophthalmology, and neurosurgery is crucial to providing comprehensive care. CLINICAL QUESTION/LEVEL OF EVIDENCE/METHODS:Therapeutic, IV.

Patients suffering from alopecia may experience low self-esteem, low self-image, and other psychological consequences. While medical and surgical options for treating hair loss exist, these may be prohibitively expensive or have an unpredictable outcome. In lieu of or in addition to therapeutic approaches, cosmetic options have long been an approach to hair loss. However, patients and clinicians alike often regard cosmetic options to be limited to hairstyling and hairpieces, unaware that newer options, namely pigmented concealing powders, may offer a more practical and seemingly natural camouflage. This article introduces the clinician to concealing powders as a viable option for the hair loss patient.