There is fat in this sclerosis: A case report of sclerotic lipoma and review of the literature

Sclerotic lipomas, a lipoma variant, are benign subcutaneous tumors, so-named because of their resemblance to sclerotic fibromas. Previous literature has suggested that these tumors may show a predilection for middle-aged adult males. We report an unusual case of a sclerotic lipoma diagnosed on the scalp of a 66-year-old female. The patient presented to the outpatient clinic with a 3- to 4-year history of an enlarging and irritated 2.6-cm nodule on the anterior crown of the scalp, clinically thought to be a pilar cyst. Histopathological examination from the excisional specimen revealed a well-circumscribed dermal to subcutaneous tumor with ample sclerotic collagen bundles, an increased number of CD34 positive spindled cells, and prominent S-100 positive mature adipocytes comprising greater than 50% of the tumor. We present this case given its atypical clinical and histopathological presentation, review the literature of sclerotic lipomas, and discuss the differential diagnosis to raise awareness of this rare entity.     

Challenges in managing difficult‐to‐treat asthma in children: Stop,look, and listen

It is recognized that asthma places a significant economic burden on the United States, with a total cost of $81.9 billion total costs including costs incurred by absenteeism and mortality. Severe asthma places a large burden of morbidity on children and their caregivers, including severe exacerbations, medication side effects, increased missed school days leading to impaired school performance, and lower caregiver quality of life. Therefore, we need to take a careful look at how we can make asthma care more efficient and cost effective, especially for those children with severe asthma. The 2019 American Thoracic Society symposium reported in this theme issue presented four aspects of managing severe asthma in children that merit attention including patient variables that affect severe asthma, understanding patient behaviors around medications, the appropriate use of bronchoscopy in diagnosis and management of severe asthma, and also the rational use of biologic therapy. This editorial will summarize key points in each of these reviews and prompt a more careful reading of each contribution.     

The molecular genetics of human sleep

It has been known for many years that genetic influences account for some of the individual differences in human sleep parameters, but the underlying molecular mechanisms remain unclear. With major advances of molecular biology and the recognition of heritable sleep behaviors in humans over the past 30 years, a number of genetic variants have been identified to be associated with human sleep timing, duration and quality, both in healthy individuals and under pathological conditions. Some of these variants were further validated and characterized in animal models, shedding light on the mechanism of how these variants likely alter sleep in humans, which may provide new insights into developing more effective treatments to improve human sleep.     

A familial amyotrophic lateral sclerosis pedigree discordant for a novel p.Glu46Asp heterozygous OPTN variant and the p.Ala5Val heterozygous SOD1 missense mutation

About 10% of Amyotrophic Lateral Sclerosis (ALS) cases are familial (FALS), mainly related to mutations in C9ORF72, SOD1, TARDBP, and FUS genes. Recent data revealed the presence of multiple variants in ALS-associated genes in FALS in excess of what is to be expected by chance. FALS patients not carrying a pathogenic genetic mutation detected in their kindred have been reported. We report a FALS case, who did not carry the p.Ala5Val heterozygous SOD1 mutation that had been detected in other affected subjects of his kindred. He underwent Next-Generation Sequencing, revealing a novel p.Glu46Asp heterozygous OPTN variant of uncertain significance (VUS). Discordant genetic test results in FALS cases within the same family and the detection of variants of uncertain significance increase the complexities of genetic counselling.     

Skipped vertebral spontaneous spondylodiscitis caused by Granulicatella adiacens: Case report and a systematic literature review

BackgroundGranulicatella adiacens is a nutritional variant of streptococcus (NVS), which has been rarely reported as an etiologic agent in spondylodiscitis (SD).Material and methodsWe report a case of a 51-year-old male with from chronic low-back pain associated with right sciatica and ipsilateral monoparesis. Spinal MRI showed radiological signs on L1-L2 and L5-S1 discs consistent with SD. We also performed a systematic review of the pertinent literature in order to retrieve all the key information regarding microbiological and clinical features.ResultsIncluding our patients, seven cases with a mean age 56 ± 10.2 years were reported in English literature. Six patients were conservatively managed with antibiotic therapy (66%), whereas three with surgery in combination with antibiotics (33%). An endocarditis was associated in three cases, and a pacemaker infection in one. All patients received targeted antibiotic therapy resulting in a quick improvement of clinical symptoms with favorable outcome. Our case is the only with a skip spontaneous SD, which needed a surgical decompression due to the associated neurological symptoms.ConclusionsThis incidence of SD sustained by Granulicatella adiances could be underestimated due to their particular microbiological conditions requested for their cultures. However, this infection should be suspected in cases of culture-negative SD, especially when associated with endocarditis.