An Enigmatic Case of Jaundice and Photosensitivity in an Adolescent.

Erythropoietic protoporphyria (EPP) presents with nonblistering photosensitivity. Hepatobiliary manifestations are seen in around 5% cases and include cholelithiasis, elevations in liver enzymes, progressive jaundice, and end-stage liver disease. The diagnosis is suspected based on clinical features and elevated erythrocyte metal-free protoporphyrin and confirmed by genetic analysis showing loss-of-function mutations in the ferrochelatase (FECH) gene. We present an adolescent boy who presented with jaundice and photosensitivity with the liver biopsy showing deposition of brown pigments within the canaliculi and hepatocytes. This pigment showed Maltese cross birefringence on polarizing microscopy and Medusa-head appearance on electron microscopy. Genetic analysis revealed loss-of-function mutations in FECH. Introduction of EPP is an inborn error of heme biosynthesis caused by mutations in FECH with a prevalence of 1:75,000 to 1:200,000. We present a case of a 16-year-old adolescent boy with photosensitivity, abdominal pain, and jaundice with protoporphyrin deposition in the liver who was ultimately diagnosed with EPP based on genetic analysis.

Tumor infiltrating lymphocytes profile and response in neoadjuvant chemotherapy-treated triple-negative breast carcinoma patients.

Background: Triple negative breast carcinoma (TNBC) has the highest mortality among all the breast carcinoma subtypes, but paradoxically, it shows the best response to neoadjuvant chemotherapy (NACT). Tumor infiltrating lymphocytes (TIL) density has been shown to have prognostic significance in TNBC. However, there are limited data on TIL subpopulation and their association with response to NACT in TNBC. Materials and Methods: The study included 80 consecutive patients with TNBC prospectively diagnosed for two and half years, who underwent tru-cut biopsy before NACT, followed by subsequent definite surgical procedures. Global TIL profile and immunohistochemistry (IHC) analysis of CD3, CD4, CD8, CD20, and CD56 were done on all baseline tru-cut biopsies and post-NACT surgical specimens. Results: Almost half the patients were postmenopausal with a mean age of 45.89 ± 4.62 years. The majority had low CD3, low CD4, low CD56, low CD20, and high CD8 positivity in both pre- and post-NACT specimens. On multivariate analysis, low CD3, CD4, CD56 and CD 20 were established as independent predictor of poor pathologic response (PR). Low CD4 (adjusted odds ratio [OR]: 228.46) was associated with the highest OR for poor PR. Low CD8 was associated with significantly decreased odds of poor PR on univariate analysis (OR: 0.26), but it was not been established as an independent predictor of PR on multivariate logistic regression. NACT did not significantly alter the profile of TILs. Conclusions: TIL profile with low CD3, CD4, CD20, and CD56 expression predicts PR to NACT in TNBC and may thus help in prognostication of these patients.

Hepatic osteodystrophy and fracture risk prediction using FRAX tool in Indian patients with cirrhosis.

BACKGROUND AND AIM: The main clinical relevance of hepatic osteodystrophy is the increased risk of fractures. Dual-energy X ray absorptiometry (DEXA)-based assessment of bone mineral density, the current gold standard for diagnosing osteoporosis, is not the sole determinant of fracture risk. Other clinical risk factors also play an important role. This study was carried out to assess the prevalence and risk factors of hepatic osteodystrophy and estimate the entailed fracture risk by using the FRAX tool in a cohort of Indian cirrhotics. METHODS: Consecutive patients with cirrhosis (n = 120) were recruited. Etiologic workup, liver function tests, serum calcium, phosphate, 25(OH)D, HbA1c, and DEXA scan were performed. Hepatic osteodystrophy was defined as a T score of < -1. FRAX scores were calculated using the Indian calculator. RESULTS: The study cohort was predominantly male (86.7%) with a median age of 49 (40-65) years. Alcohol was the most common etiology (80%). All patients had Child-Turcotte-Pugh class B (63.3%) or class B (36.7%) cirrhosis. Hepatic osteodystrophy was present in 83.3% patients. On multivariate analysis, smoking (odds ratio [OR]: 3.1 [1.76-4.7], P < 0.001) and serum 25(OH)D (OR: 0.23 [0.09-0.94]; P = 0.03) showed significant association with hepatic osteodystrophy. The 10-year probability of major osteoporotic fracture and hip fracture was 5.7% (2.1-28.9) and 2.5% (1.4-7.4), respectively. Using a FRAX probability cut-off of 20% for major osteoporotic fracture and 3% for hip fracture, 30% patients qualified for osteoporosis treatment. CONCLUSION: Hepatic osteodystrophy is widely prevalent among Indian patients with cirrhosis and entails a high risk of fractures. Approximately one-third of patients with cirrhosis need treatment to reduce the risk of osteoporotic fractures.