Exsanguinated to death by a perforated duodenal ulcer: Masquerader apprehended on autopsy.

ABSTRACT: Gastroduodenal perforation commonly due to spontaneous perforation of a pre-existing peptic ulcer is a surgical emergency. On laparotomy, approximately 60%-70% perforations are duodenal and 15%-20% gastric. The most prevalent etiology are Helicobacter pylori infection in 65%-70% and non-steroidal anti-inflammatory drugs (NSAIDS) abuse in 30%-50% cases depending on the prevalence of H. pylori infection. We report here the autopsy findings in a 29-year-old male who collapsed suddenly in the emergency room of our hospital after a bout of massive hematemesis.

Hemophagocytic Lymphohistiocytosis in Erythema Nodosum Leprosum: Case Report of an Unusual Conundrum.

Hemophagocytic lymphohistiocytosis (HLH) and erythema nodosum leprosum (ENL) result from a complex agent-host interaction and form a continuum of the same spectrum. A 30-year-old multi-gravida presented at 36 weeks gestation with fever and erythematous raised lesions over the face and upper and lower limbs after defaulting treatment for borderline lepromatous leprosy. Skin biopsy confirmed ENL, hence multi-drug therapy (MDT) and oral steroids were restarted. However, her condition worsened and she developed icterus, periorbital puffiness, pleural effusion, ascites and splenomegaly. Laboratory investigations showed pancytopenia, conjugated hyperbilirubinemia, transaminitis, elevated lactate dehydrogenase, hypertriglyceridemia, hyperferritinemia and hypofibrinogenemia. Dapsone was stopped on the suspicion of dapsone hypersensitivity but hyperbilirubinemia progressed. Diagnosis of HLH was clinched after bone marrow aspirate showed florid hemophagocytosis and subsequently, intravenous immunoglobulin (2 g/kg) over 5 days and dexamethasone were administered. The patient improved gradually with normalization of laboratory parameters and restarted MDT. This case depicts a rare and potentially catastrophic complication of ENL and emphasizes a vigil for HLH syndrome in such cases.

Topical Gentamicin 0.1% Promotes Collagen 7 Expression in Recessive Dystrophic Epidermolysis Bullosa.

Background: Currently, there is no cure for epidermolysis bullosa (EB) but few studies have explored the role of aminoglycosides in promoting collagen 7 expression in recessive dystrophic EB (RDEB). Materials and Methods: Consecutive patients aged >1 year with a confirmed diagnosis of dystrophic EB (DEB) were advised to apply 0.1% w/w gentamicin cream in a collagen base (Derbriment G™) twice daily on a representative area on right lower limb (RLL) and paraffin gauze dressings on the corresponding opposite side on the left lower limb (LLL). Skin lesions were evaluated clinically during the 12-week treatment period at the end of which a repeat skin biopsy was sent for immunofluorescence antigen mapping (IFM). Results: Twelve patients with DEB were recruited but only eight completed the study and were analyzed. The mean fluorescence intensity (MFI) of the study cohort increased from 2765 ± 1732.07 (263-4845) at baseline to 5412.75 ± 3937.64 (2100-13536) at 12 weeks; a 95.75% (range 5.34%-775.14%) increase in the MFI of collagen 7 from baseline (P = 0.06). Among patients with a known termination codon mutation (n = 3), the percentage increase in MFI was greater among patients with known premature termination codon (PTC) mutations compared to those with unknown mutations. The clinical severity did not change significantly in terms of the mean number of blisters, erosions, and scarring during the study period. None of the parents reported any adverse effect. Conclusions: Topical gentamicin 0.1% w/w is a safe and effective way to promote the expression of COL7A1 in DEB patients, especially those carrying PTC mutations.

Langerhans cell sarcoma with BRAF-V600E mutation and hemophagocytosis: An autopsy report.

Langerhans cell sarcoma (LCS) is a rare high-grade neoplasm of langerhans cell phenotype having unambiguous malignant cytological features. We report such a rare case in a 20-year-old man who presented with dyspnea and high-grade fever. On evaluation, he had generalized lymphadenopathy, hepatosplenomegaly, and a large anterior mediastinal mass. Fine needle aspiration from the mediastinal mass and bone marrow aspirate showed numerous atypical cells, many of which showed grooved nuclei. In addition, the bone marrow showed prominent hemophagocytosis. The patient had a stormy hospital stay and succumbed to the illness. The autopsy revealed a rare multisystem involvement by LCS involving the lymph nodes, liver, spleen, lungs, and intestine, which harbored a BRAFV600E mutation and was associated with hemophagocytosis.

Tale of a mermaid.

Sirenomelia is a rare congenital anomaly characterized by the presence of a median single lower appendage. The affected fetus is popularly referred to as a "Mermaid baby," due to the uncanny resemblance to the fictious fable character. The manifestation is a result of the merger of the lower limbs with variable fusion or complete absence of bones. Sirenomelia is universally fatal due to the associated lethal anomalies involving the internal organs, which are usually part of the VACTER or VACTERL complex. However, this sirenomelia-afflicted fetus is unique in being associated with VACTERL as well as congenital hydrocephalus.