Pharmacological treatment of systemic sclerosis-associated interstitial lung disease: an updated review and current approach to patient care.

Interstitial lung disease (ILD) has a high prevalence among patients with systemic sclerosis (SSc), carrying high mortality and morbidity. During the last decade, the emergence of new pharmacological therapies for SSc-associated ILD (SSc-ILD) and improved tools for its diagnosis and monitoring have changed the prevailing clinical approach, highlighting the need for early recognition and prompt treatment for SSc-ILD. Furthermore, the recent approval of multiple therapies for SSc-ILD poses challenges for the rheumatologist and pulmonologist in choosing the appropriate therapy for individual clinical scenarios. We review the pathophysiology of SSc-ILD, and the mechanisms of action and rationale behind current therapies. We also review the evidence of the efficacy and safety of immunosuppressive drugs, antifibrotic agents, and immunomodulators from cyclophosphamide and mycophenolate to novel agents such as nintedanib and tocilizumab. We also emphasise the importance of early diagnosis and monitoring and describe our approach to pharmacological therapy for SSc-ILD patients.

Ultrasound quantitative assessment of ventral finger microvasculopathy in systemic sclerosis with Raynaud's phenomena: a comparative study.

OBJECTIVE: To assess the finger vascularity of systemic sclerosis patients with Raynaud's phenomenon (RP-SSc) using various ultrasound techniques. METHODS: All fingers (except thumbs) of 18 RP-SSc patients and 18 controls were imaged at room temperature using four ultrasound vascular imaging techniques. The percent vascular area was quantified by counting blood flow pixels in a 25 mm2 square centred at the nail fold for the dorsal side and in 25 mm2 and 100 mm2 square from the fingertip for the ventral side. The mean vascular intensity was calculated from the corresponding areas for dorsal and ventral sides. RESULTS: The percent vascular areas and mean vascular intensities in RP-SSc were significantly lower than those in controls for both dorsal and ventral sides (p<0.01). The mean vascular intensities showed slightly higher area under the curve (AUC) than the percent vascular areas (0.53-0.91 vs 0.53-0.90) regardless of imaging technique and assessment side. For each imaging technique, the ventral side vascularity showed a higher AUC (0.74-0.91) compared with the dorsal side (0.53-0.81). Moreover, ventral side abnormalities were associated with a history of digital ulcers. CONCLUSIONS: Ultrasound demonstrated potential to quantify finger vascularity of RP-SSc. The ventral side of the fingers showed a higher accuracy in detecting RP-SSc than the dorsal side.

Granulomatosis with polyangiitis masquerading as pituitary adenoma with apoplexy.

Granulomatosis with polyangiitis (GPA), formerly known as Wegener's granulomatosis, is a small- and medium-vessel autoimmune vasculitis. Rare presentations of GPA can manifest as ophthalmologic and endocrinological deficits with sellar enhancement on imaging. While GPA typically presents distinct in appearance from other sellar pathologies, such as pituitary adenoma, we report the case of a 41-year-old woman with GPA of the pituitary that was initially diagnosed as pituitary macroadenoma with apoplexy and treated with two surgical resections without improvement of clinical symptoms. Pathology analysis of the second resection specimen revealed an inflammatory process consistent with GPA. After the pathologic and clinical diagnosis of GPA was established, treatment with steroid and steroid-sparing immunosuppressants resulted in improvements both on imaging and symptomatically. We discuss important aspects of the diagnosis and treatment of this rare presentation of GPA.

The Clinical Manifestations and Genetic Implications of Baraitser-Winter Syndrome Type 2.

An 18-year-old Caucasian male was born by cesarean section weighing 2.6 kg (5 lb 14 oz) at birth after an uncomplicated pregnancy with no perinatal complications. Around 4 to 5 months of age, the patient's mother initially became concerned as he was experiencing signs of developmental delay and a mild floppy tone, in addition to facial features that resembled some form of mental retardation. The patient's older brother also experienced similar developmental symptoms and facial features that presented around the same age period as our patient. It was initially thought to be Down syndrome; however, both the patient and his brother tested negative for Down syndrome on chromosomal analyses. There was also a question of whether the patient had some form of autism spectrum disorder, but doctors were unable to specifically confirm this. Now at the age of 18 years, the patient has no understandable speech with distinctive facial features such as a broad nasal bridge and prominent epicanthic folds, lissencephaly, smaller than average head size, intellectual disability, and hearing loss. It was discovered, through trio-based exome sequencing, that the patient had a de novo missense mutation (p.Ser155Phe) in the ACTG1 gene, which has been linked to the rare syndrome known as Baraister-Winter syndrome type 2. Baraitser-Winter syndrome 2 is a unique variant that is clinically similar to Baraitser-Winter syndrome type 1; however, only seven previous cases have been reported.