A Territory-Wide Follow-Up of Primary and Secondary Extramammary Paget Disease of 2 Decades: Effects of Local Disease on Survival.

Introduction: Extramammary Paget disease (EMPD) is an uncommon malignant cutaneous neoplasm that are divided into primary and secondary forms. In this multicenter study, histologically proven cases of primary and secondary EMPD were reviewed for clinical outcomes with subgroup analysis for secondary EMPD.

Methodology: Cases of EMPD were identified from pathology report of the involved institutions over a period of over 2 decades.

The Asian Fabry Cardiomyopathy High-Risk Screening Study 2 (ASIAN-FAME-2): Prevalence of Fabry Disease in Patients with Left Ventricular Hypertrophy.

Fabry disease (FD) is a rare X-linked lysosomal storage disorder that commonly manifests cardiovascular complications. We aimed to assess the prevalence of FD in a Chinese population with left ventricular hypertrophy (LVH) whilst implementing a gender-specific screening approach. Patients with LVH, defined as a maximum thickness of the left ventricular septal/posterior wall ≥ 13 mm, were considered eligible.

Increased histological severity and chronicity of interface inflammation in anti-MDA5 dermatomyositis-A comparative dermatopathological analysis.

Anti-melanoma differentiation-associated gene 5 (MDA5) dermatomyositis is characterized by serological detection of anti-MDA5 antibody and rapidly progressive interstitial lung disease. In this study, the largest cohort of skin biopsies to date of anti-MDA5 dermatomyositis was reviewed and compared with cases of dermatomyositis with negative serology. Findings contribute to the histological diagnosis and evaluation of the severity of cutaneous inflammation in anti-MDA5 dermatomyositis.

A rare presentation of pemphigus vegetans as an isolated vegetative lesion-Review of histopathological clues and treatment effects in multiple biopsy specimens.

Background: Pemphigus is a group of immunobullous dermatoses characterized by the presence of autoantibodies directed against adhesion molecules of keratinocytes, with pemphigus vegetans being the rarest form, accounting for 1%-2% of all cases of pemphigus. Pemphigus vegetans is characterized by verrucous vegetative lesions in addition to vesiculobullous lesions.

Methods: We report a rare case of pemphigus vegetans presenting as an isolated vegetative lesion in the groin 3 months prior to the development of blisters.

PRAME immunostain expression in sebaceous lesions, cutaneous carcinomas and adnexal structures.

The use of immunostain for PRAME antigen is well established for cutaneous melanolocytic lesions. However, its staining in other cutaneous structures and lesions is under reported. This study assessed PRAME staining in a large cohort of normal skin tissue, sebaceous lesions, and cutaneous carcinomas to better delineate patterns of PRAME immunoreactivity.

High Prevalence of Late-Onset Fabry Cardiomyopathy in a Cohort of 499 Non-Selective Patients with Left Ventricular Hypertrophy: The Asian Fabry Cardiomyopathy High-Risk Screening Study (ASIAN-FAME).

Left ventricular hypertrophy (LVH) caused by cardiac variant Fabry disease (FD) is typically late-onset and may mimic LVH caused by abnormal loading conditions. We aimed to determine the prevalence of FD in a non-selective patient population of everyday practice presenting with LVH, including those with hypertension and valve disease. We measured plasma alpha-galactosidase A activity using dried blood spot tests in 499 (age = 66 ± 13 years; 336 men) Hong Kong Chinese patients with LVH defined as maximal LV septal/posterior wall thickness ≥13 mm on echocardiography.

Screening for Fabry Disease in patients with unexplained left ventricular hypertrophy.

Fabry Disease (FD) is a systemic disorder that can result in cardiovascular, renal, and neurovascular disease leading to reduced life expectancy. FD should be considered in the differential of all patients with unexplained left ventricular hypertrophy (LVH). We therefore performed a prospective screening study in Edmonton and Hong Kong using Dried Blood Spot (DBS) testing on patients with undiagnosed LVH.

Trichoblastic Carcinosarcoma Arising From the Vagina: A Case Report With Comprehensive Immunophenotypic Analysis.

A 54-year-old woman presented with abdominal pain. Magnetic resonance imaging revealed an upper vaginal mass with no pelvic side wall involvement, nodal, or distant metastasis. Radical hysterectomy was performed.

Neonatal epidermolysis bullosa: lessons to learn about genetic counseling.

Background: Epidermolysis Bullosa (EB) is a heterogeneous group of congenital blistering diseases that usually presents in the neonatal period. EB is classified into three major categories, each with many subtypes based on the precise location at which separation or blistering occurs, namely epidermolysis bullosa simplex (EBS), junctional epidermolysis bullosa (JEB) and dystrophic epidermolysis bullosa (DEB).

Methods: We describe genetics of neonatal EB in Hong Kong.

Concurrent fatty liver increases risk of hepatocellular carcinoma among patients with chronic hepatitis B.

Background And Aims: Concurrent fatty liver in hepatitis B virus (HBV)-infected patients without significant alcohol intake is a frequent and increasingly alarming problem because of the non-alcoholic fatty liver disease pandemic. The risk of HBV-related hepatocellular carcinoma (HCC) development was increased by concomitant obesity and diabetes. Direct evidence of the hepatocarcinogenic effect of fatty liver in chronic HBV remains elusive.

Neonatal Abdominal Hemangiomatosis: Propranolol beyond Infantile Hemangioma.

Hemangioma is the most common vascular tumor of infancy; presentation is often as cutaneous infantile hemangioma (IH). Cutaneous hemangioma is a clinical diagnosis. Most IHs follow a benign course, with complete involution without treatment in the majority of cases.

New simple prognostic score for primary biliary cirrhosis: Albumin-bilirubin score.

Background And Aim: Serum albumin and bilirubin are the most significant independent prognostic factors to predict hepatic events in patients with primary biliary cirrhosis (PBC). We aimed to investigate the prognostic significance of a new prognostic score, the albumin-bilirubin (ALBI) score, among PBC patients.

Methods: In a retrospective longitudinal cohort of 61 Chinese PBC patients with follow-up period up to 18.

Evaluation of histological staging systems for primary biliary cirrhosis: correlation with clinical and biochemical factors and significance of pathological parameters in prognostication.

Aims: A new Japanese histological staging system for primary biliary cirrhosis (PBC) has been proposed. We aimed to evaluate the efficacies of the Scheuer, Ludwig and Japanese staging systems, with emphasis on their clinical and biochemical correlations and prognostic significances.

Methods And Results: We conducted a retrospective review of a cohort of 58 Chinese PBC patients, with follow-up of up to 16.

Non-alcoholic fatty liver disease: spectral patterns observed from an in vivo phosphorus magnetic resonance spectroscopy study.

Background & Aims: Liver biopsy is the gold standard for diagnosing non-alcoholic fatty liver disease (NAFLD) but with practical constraints. Phosphorus magnetic resonance spectroscopy ((31)P-MRS) allows in vivo assessment of hepatocellular metabolism and has shown potential for biochemical differentiation in diffuse liver disease. Our aims were to describe spectroscopic signatures in biopsy-proven NAFLD and to determine diagnostic performance of (31)P-MRS for non-alcoholic steatohepatitis (NASH).

Intrarenal expression of microRNAs in patients with IgA nephropathy.

MicroRNAs (miRNAs) are noncoding, single-stranded RNA molecules that have important roles in a number of physiological and pathological processes. Previous studies have proved that miRNAs targeting ZEB1 and ZEB2 may repress epithelial-to-mesenchymal transition. In this work, we studied the intrarenal expression of miR-200 family, miR-205 and miR-192 in patients with immunoglobulin A (IgA) nephropathy.

Increased liver stiffness measurement by transient elastography in severe acute exacerbation of chronic hepatitis B.

Background And Aims: The proposed cut-off values for the degree of fibrosis as assessed by liver stiffness measurement (LSM) might not be applicable in severe acute exacerbation of chronic hepatitis B (CHB). We aimed to assess the effect of necroinflammatory activity on LSM in this condition.

Methods: We prospectively recruited consecutive patients with severe acute exacerbation of CHB (alanine aminotransferase or ALT > 10x upper limit of normal).

Multiple inflamed nevi in a child with oculocutaneous albinism: what lessons can be learned?

We report a 12-year-old girl with oculocutaneous albinism who developed nonitchy and nontender erythematous spots. A skin biopsy specimen of one of the spots confirmed that the lesion was an inflamed melanocytic nevus. We emphasize the atypical presentation of nevi in individuals with albinism.

Retrocapsular lens matter in uneventful phacoemulsification: does it really exist?

Purpose: To have the first cytopathological evaluation of any lens matter fragments within retrocapsular anterior vitreous in those patients undergone uneventful phacoemulsification in Prince of Wales Hospital, Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong.

Methods: Thirty patients with cataracts and various vitreoretinal conditions that required combined surgery were recruited. After the uneventful clear corneal phacoemulsification, three sclerotomies including infusion port were created with cautions against any inadvertent leakage of vitreal content.

Association of cytokine gene polymorphisms and liver fibrosis in chronic hepatitis B.

Background And Aim: As liver fibrosis is the result of persistent necroinflammation in the liver, pro-inflammatory cytokines secreted in response to cell injury have a central role in the pathogenesis of liver fibrosis. We aimed to investigate the association of cytokine gene polymorphism and liver fibrosis among Chinese patients with chronic hepatitis B.

Methods: Polymorphisms at interleukin-10 (IL-10-627, -1117), interleukin-1-beta (IL-1beta-511, -31, -3964), interleukin-1 receptor antagonist (IL-1RN), and tumor necrosis factor-alpha (TNF-alpha-308, -238) among Chinese chronic hepatitis B patients were determined.

Diffuse large B-cell non-Hodgkin's lymphoma associated with bilateral carotid-cavernous fistulas in an elderly woman.

A 74-year-old woman presented with a 2-month history of left proptosis, left eye chemosis, left abducens nerve palsy and cervical lymphadenopathy. She was noted to have bilateral carotid cavernous fistulas and was treated with transvenous coil embolization. The diagnosis of diffuse large B-cell non-Hodgkin's lymphoma was only confirmed 4 months later, despite a high index of suspicion, after clinical deterioration.