Acta Derm Venereol
October 2024
Porokeratosis ptychotropica (PP) is a rare and unusual variant of porokeratosis. There is a dearth of information on the natural history, epidemiology, and optimal treatment options. This study aimed to characterize the worldwide distribution, epidemiology, clinical features, and treatments attempted for all reported cases of porokeratosis ptychotropica.
View Article and Find Full Text PDFAnti-p200 pemphigoid is an uncommon subepidermal autoimmune bullous disease that, unlike many other autoimmune bullous diseases, has not previously been associated with hematological diseases. The diagnosis of anti-p200 pemphigoid in a patient with congruent clinical features requires the demonstration of subepidermal blistering, with linear deposition of immunoglobulin (Ig) G and/or C3 at the dermoepidermal junction on direct immunofluorescence, and a floor-binding pattern on indirect immunofluorescence. In addition, the detection of antibodies against p200 antigen via immunoblotting is ideal but not readily accessible in many facilities, leading to a potential under-recognition and under-diagnosis of this condition.
View Article and Find Full Text PDFJ Neuromuscul Dis
January 2023
Aim: We describe a cohort of five patients with limb-girdle muscular dystrophy (LGMD) 2G/LGMD-R7 in a South-east Asian cohort.
Background: LGMD2G/LGMD-R7-telethonin-related is caused by mutations in the TCAP gene that encodes for telethonin.
Methods: We identified consecutive patients with LGMD2G/LGMD-R7-telethonin-related, diagnosed at the National Neuroscience Institute (NNI) and National University Hospital (NUH) between January 2000 and June 2021.
Pigmented nail lesions are challenging problems. The differential diagnosis is broad and ranges from common self-limiting conditions, such as subungual hematoma and infection, to potentially fatal conditions, such as subungual melanoma. Clinical assessment and adjuncts, such as dermoscopy and imaging, are usually insufficient to establish a diagnosis, and a nail bed biopsy is often required.
View Article and Find Full Text PDFDysferlin is a sarcolemmal protein present in muscle cells. It is responsible for muscle membrane repair. Dysferlin gene (DYSF) mutation, resulting in deficiency in this protein, is termed dysferlinopathy.
View Article and Find Full Text PDFWe report an unusual case of drug-associated granulomatous CD30 T-cell pseudolymphoma secondary to amlodipine. A 55-year-old Chinese man presented with a 6-month eruption of disseminated erythematous dermal papulonodules and annular infiltrated plaques over his neck and limbs symmetrically. Histopathology revealed a perivascular and interstitial infiltrate of histiocytes, eosinophils and morphologically normal lymphocytes associated with CD30 expression.
View Article and Find Full Text PDFChildhood rosacea presents a diagnostic difficulty due to the lack of diagnostic criteria and potential mimics. Ocular involvement is a frequent complication of rosacea in children and may appear before cutaneous findings. It is important for clinicians to be aware of these and to screen patients appropriately in order for timely treatment to be instituted.
View Article and Find Full Text PDFLeft atrial (LA) masses are known to be associated with peripheral embolization. Accurate identification of etiology is crucial because treatment strategies may differ. We present the case of a young woman, who was initially diagnosed with a LA thrombus and anticoagulated.
View Article and Find Full Text PDFOral lichen planus (LP) is a common manifestation in patients with LP; however, isolated lip LP is rare and may mimic other conditions such as lichenoid drug eruptions, actinic cheilitis, and early carcinoma in situ in the absence of typical skin lesions. Actinic lichen planus (ALP) is a variant of LP occurring on light-exposed areas in patients with dark skin. We report the case of a Chinese female with isolated ALP of the lower lip, mimicking herpes simplex infection at presentation.
View Article and Find Full Text PDFBasaloid follicular hamartoma (BFH) is a rare benign adnexal tumor with variable clinical presentation. We report a case of a 64-year-old man, who presented with an incidental finding of a 3mm hyperpigmented macule on his cheek. Dermoscopy revealed a structureless blue lesion.
View Article and Find Full Text PDFAustralas J Dermatol
February 2017
Obesity is an independent risk factor for severe outcome of influenza infection. Higher dietary fat consumption has been linked to greater morbidity and severe influenza in mouse models. However, the extent of generation of neutrophil extracellular traps (NETs or NETosis) in obese individuals during influenza pneumonia is hitherto unknown.
View Article and Find Full Text PDFExtramammary Paget's disease (EMPD) is a rare intraepithelial adenocarcinoma usually found in apocrine-rich areas. Although surgery remains standard treatment, topical imiquimod has emerged as a promising drug for the treatment of EMPD in recent years. We present our experience in treating EMPD in Asian skin successfully with topical imiquimod 5% cream, over the past 10 years in our tertiary institution.
View Article and Find Full Text PDFEccrine tumors are adnexal tumors with a varied clinical presentation and wide histological spectrum. This study aims to consolidate data on the clinical characteristics of eccrine tumors to help improve clinical acumen and management of such tumors. Histopathological records from January 2008 to December 2012 were retrieved.
View Article and Find Full Text PDFBackground: Neuropathy is a common adverse effect of bortezomib. Isolated central nervous system (CNS) relapse in MM remains exceedingly rare and carries a dismal prognosis. We present an unusual case of bortezomib related neuropathy masking a CNS relapse of MM.
View Article and Find Full Text PDFNeutrophil extracellular traps (NETs) are released by activated neutrophils to ensnare and kill microorganisms. NETs have been implicated in tissue injury since they carry cytotoxic components of the activated neutrophils. We have previously demonstrated the generation of NETs in infected murine lungs during both primary pneumococcal pneumonia and secondary pneumococcal pneumonia after primary influenza.
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