Structure-function implication on a novel homozygous Trp250/Gly mutation of transglutaminase-1 (TGM1) observed in a patient of autosomal recessive congenital ichthyosis is invoked from a bioinformatics analysis. Structural consequences of this mutation are hypothesized in comparison to homologous enzyme human factor XIIIA accepted as valid in similar structural analysis and are projected as guidelines for future studies at an experimental level on TGM1 thus mutated.

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The authors report a 9-day old neonate from a rural area with umbilical myiasis caused by fly larvae of Cochliomyia hominivorax. The blowfly causing this infestation belongs to the family Calliphoridae (Diptera) and the genus Cochliomyia that usually infests only open wounds of animals. The new-world screw-worm fly Cochliomyia hominivorax, is an obligate ectoparasite of domestic and wild animals, and in some cases may affect humans. This is the rare reported case of neonatal umbilical myiasis with sepsis in the world literature.

Only about 8% of patients present with extrapulmonary sarcoidosis without pulmonary involvement. Pulmonary sarcoidosis (PS) typically presents with bilateral hilar adenopathy, reticular opacities or interstitial lung disease and much less commonly with parenchymal masses. We detail a unique case of PS diagnosed 30 years after initial diagnosis of neurosarcoidosis presenting with large bilateral parenchymal lung masses. Case Description: A 55-year-old African American male presented to the emergency department with increasing productive cough associated with hemoptysis and weight loss. He denied fevers or any cancer history. Medical history included neurosarcoidosis with ocular involvement diagnosed 30 years prior maintained on chronic steroids. He had enucleation of his left eye 25 years prior. On examination his vital signs were stable, respiratory examination revealed diffuse wheezing and crackles on the left side which cleared with coughing. Computed tomography (CT) scan of the chest was obtained due to high suspicion of malignancy, which showed a low-density mass measuring 4.5 cm x 4 cm in the left upper lobe and a 4.2 cm x 3 cm mass in the right upper lobe (Figure 1). In addition, there were numerous smaller lung nodules associated with left hilar lymphadenopathy. A CT-guided biopsy of the left mass was performed. It was negative for malignancy or infection, but did show evidence of ill-formed granulomas consistent with PS. Case Discussion: Sarcoidosis most frequently involves the lungs. However, in approximately 30% of patients extrapulmonary manifestations can occur. Only about 8% of sarcoidosis cases have extrapulmonary manifestations without pulmonary involvement. PS can often be detected on high resolution computed tomography (HRCT) as symmetric mediastinal or hilar lymphadenopathy. Other common manifestations include perilymphatic irregular nodular thickening, ground glass opacities, cystic lesions, multiple nodules, cavitary lesions, or rarely lung masses. Large nodules presenting as a mass are seen in only 2.5% of cases. These patterns arise due to compression of the air spaces by interstitial granulomas. Given that 90% of sarcoidosis cases will have some pulmonary involvement it is imperative to continue close monitoring of pulmonary function testing and even serial imaging to detect early evolution of pulmonary disease. Our patient's pulmonary manifestations may have been detected prior to symptom onset with more aggressive monitoring with the aforementioned methods.