Bridging bytes and biopsies: A comparative analysis of ChatGPT and histopathologists in pathology diagnosis and collaborative potential.

BACKGROUND AND AIMS: ChatGPT is a powerful artificial intelligence (AI) chatbot developed by the OpenAI research laboratory which is capable of analysing human input and generating human-like responses. Early research into the potential application of ChatGPT in healthcare has focused mainly on clinical and administrative functions. The diagnostic ability and utility of ChatGPT in histopathology is not well defined. We benchmarked the performance of ChatGPT against pathologists in diagnostic histopathology, and evaluated the collaborative potential between pathologists and ChatGPT to deliver more accurate diagnoses. METHODS AND RESULTS: In Part 1 of the study, pathologists and ChatGPT were subjected to a series of questions encompassing common diagnostic conundrums in histopathology. For Part 2, pathologists reviewed a series of challenging virtual slides and provided their diagnoses before and after consultation with ChatGPT. We found that ChatGPT performed worse than pathologists in reaching the correct diagnosis. Consultation with ChatGPT provided limited help and information generated from ChatGPT is dependent on the prompts provided by the pathologists and is not always correct. Finally, we surveyed pathologists who rated the diagnostic accuracy of ChatGPT poorly, but found it useful as an advanced search engine. CONCLUSIONS: The use of ChatGPT4 as a diagnostic tool in histopathology is limited by its inherent shortcomings. Judicious evaluation of the information and histopathology diagnosis generated from ChatGPT4 is essential and cannot replace the acuity and judgement of a pathologist. However, future advances in generative AI may expand its role in the field of histopathology.

Pigmented Nail Lesions: When to Observe, When to Biopsy, When to Widely Excise, and When to Amputate?

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. However, this is not an innocuous procedure and may result in permanent nail deformity. In addition, subjecting every patient with nail pigmentation to a biopsy will result in an unacceptably high rate of negative test results. Furthermore, histopathologic diagnosis of subungual melanoma remains challenging for several reasons. Once the diagnosis of subungual melanoma is established, the definitive treatment is controversial because the existing guidelines have largely been adapted from those for cutaneous melanoma. This review presents an approach to the diagnosis and management of pigmented subungual lesions and subungual melanoma, in particular, on the basis of the latest available evidence.

Subclinical Cardiomyopathy in Miyoshi Myopathy Detected by Late Gadolinium Enhancement Cardiac Magnetic Resonance Imaging.

Dysferlin 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. Clinically, it manifests as early adulthood onset of muscle weakness with markedly elevated creatine kinase levels. The main phenotypes are limb-girdle muscular dystrophy type 2B (LGMD2B), affecting proximal muscles, and Miyoshi myopathy (MM), affecting distal muscles. Dysferlin is also present in cardiomyocytes, and case reports have emerged of cardiac abnormalities in dysferlinopathy. While routine methods of cardiac screening, namely, electrocardiography or echocardiography, are convenient and noninvasive, they often exhibit insufficient diagnostic sensitivity for detecting subclinical cardiac remodeling during early stages of cardiomyopathy. Cardiac magnetic resonance imaging though can provide accurate assessment of cardiac chamber sizes and function. With gadolinium administration, it can also detect areas of myocardial scarring and fibrosis. Early diagnosis of neuromuscular disease-related cardiomyopathy is of clinical significance, as appropriate treatment can retard myocardial fibrosis, delaying cardiomyopathy progression. We present a case of a patient with MM incidentally diagnosed with concomitant cardiomyopathy.

Cutaneous "fibroma-like" perivascular epithelioid cell tumor: A case report and review of literature.

Perivascular epithelioid cell tumors (PEComas) are a group of lesions sharing the common features of co-expression of melanocytic and myogenic markers, with focal association of the cells with vascular walls. The PEComa group exhibits a wide range of morphologies. A "fibroma-like" variant of PEComa has been recently described. The case reported herein is that of an infant with tuberous sclerosis complex (TSC) presenting with a lip mass. Excisional biopsy showed a moderately cellular tumor composed of spindled to stellate cells embedded within a collagenized stroma. The cells showed focal perivascular accumulation and positivity for both melanocytic (HMB-45) and myogenic (desmin) markers. This is the fifth reported case of "fibroma-like" PEComa in literature and the youngest patient to date. All of the "fibroma-like" PEComas were found in patients with tuberous sclerosis-hence, the diagnosis of this entity should prompt a workup for TSC; conversely, a fibroma-like lesion in a patient with TSC or with TSC-related conditions should be evaluated using melanocytic and myogenic markers. Melanocytic and myogenic markers are also useful in differentiating "fibroma-like" PEComa from other differential diagnoses such as fibroma and benign fibrous histiocytoma.

An instructive case of amlodipine-induced reversible granulomatous CD30+ T-cell pseudolymphoma.

We 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. The eruption improved rapidly after discontinuation of amlodipine and did not recur.

Cutaneous Emboli of Invasive Basidiomycosis in a Child With Aplastic Anemia.

Invasive fungal diseases are a significant cause of mortality among the immunocompromised. This report documents an unusual case of disseminated fungal infection in a child with severe aplastic anemia. The offending fungus, a Basidiomycete, is rarely known to cause human infections. The patient presented acutely with multiple purpuric skin lesions in various parts of the body. The skin biopsy revealed septated fungal hyphae embolized within small dermal blood vessels. Molecular sequencing indicated Earliella scabrosa as the likely organism. The clinical course of the infection was inexorable despite systemic antifungal treatment, resulting in mortality. The literature of human infections due to Basidiomycetes, the usefulness of histopathology in the early diagnosis of the infection, and possible treatment options are discussed.

Basaloid follicular hamartoma: clinical, dermoscopic, and histopathological characteristics of case.

Basaloid 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. Histopathology examination showed interconnecting lobules and cords of bland pigmented epithelial cells within the dermal stroma, with the presence of pseudohorncysts. The lesional cells were faintly positive for Bcl2on immunohistochemical staining. These findings were consistent with basaloid follicular hamartoma. Histological differential diagnoses include benign lesions such as trichoepithelioma, and malignant lesions such as basal cell carcinoma (BCC).

Topical imiquimod in the treatment of extramammary Paget's disease: A 10 year retrospective analysis in an Asian tertiary centre.

Extramammary 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.

Influenza infection induces host DNA damage and dynamic DNA damage responses during tissue regeneration.

Influenza viruses account for significant morbidity worldwide. Inflammatory responses, including excessive generation of reactive oxygen and nitrogen species (RONS), mediate lung injury in severe influenza infections. However, the molecular basis of inflammation-induced lung damage is not fully understood. Here, we studied influenza H1N1 infected cells in vitro, as well as H1N1 infected mice, and we monitored molecular and cellular responses over the course of 2 weeks in vivo. We show that influenza induces DNA damage to both, when cells are directly exposed to virus in vitro (measured using the comet assay) and also when cells are exposed to virus in vivo (estimated via γH2AX foci). We show that DNA damage, as well as responses to DNA damage persist in vivo until long after virus has been cleared, at times when there are inflammation associated RONS (measured by xanthine oxidase activity and oxidative products). The frequency of lung epithelial and immune cells with increased γH2AX foci is elevated in vivo, especially for dividing cells (Ki-67-positive) exposed to oxidative stress during tissue regeneration. Additionally, we observed a significant increase in apoptotic cells as well as increased levels of DNA double strand break (DSB) repair proteins Ku70, Ku86 and Rad51 during the regenerative phase. In conclusion, results show that influenza induces DNA damage both in vitro and in vivo, and that DNA damage responses are activated, raising the possibility that DNA repair capacity may be a determining factor for tissue recovery and disease outcome.

Characteristics of Eccrine Tumors in a Tertiary Institution: A 5-Year Retrospective Study.

Eccrine 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. Clinical characteristics of the tumor including site, appearance, symptoms, color, duration prior to presentation, and clinical and histological diagnosis were recorded. Eighty-four patients with eccrine tumors were identified, with seven main types of tumors recognized-hidradenoma (33.3%), poroma (29.8%), mixed tumors (14.3%), spiradenoma (8.3%), porocarcinoma (6.7%), eccrine adenoma (3.6%), and syringoma (3.6%). A total of 50% of mixed tumors were misdiagnosed as epidermal cysts. Eccrine tumors have a wide array of clinical presentations and are often clinically misdiagnosed as cysts. Recognizing certain clinical features may aid in the diagnosis, but, if in doubt, a biopsy should be performed.

Poikiloderma-like cutaneous amyloidosis--a rare presentation of primary localized cutaneous amyloidosis.

Poikiloderma-like cutaneous amyloidosis (PCA) is a rare variant of primary cutaneous amyloidosis. It was first described in 1929 and there are two clinical forms of PCA, the ordinary type and PCA syndrome. The characteristics of PCA include poikiloderma-like skin changes, lichenoid papules, blister formation, and cutaneous amyloid deposits on histological examination. These skin lesions usually occur at the extremities, consistent with the few cases that have been reported. We present a case of a 62-year-old man who presented with the features of poikiloderma-like cutaneous amyloidosis. Diagnosis of this unique condition is a challenge and a skin biopsy is necessary in such instances. A discussion of the differential diagnosis of this condition is also included.

Idiopathic aquagenic pruritus: pathogenesis and effective treatment with atenolol.

Aquagenic pruritus (AP) is a rare condition with unknown pathogenesis. We explored its pathogenesis through investigations of a patient and report the first case to be effectively treated with atenolol. A 36-year-old Indian female presented with idiopathic AP. Small-fiber neuropathy involving itch/pain-transmitting C-fibers appears to be pathogenetically important: compared with matched controls, our patient had increased intra-epidermal nerve fibers, raised warmth detection threshold, and marked hyperknesis to electrical stimulation. Autonomic nerve function tests and fingertips vasoconstriction response were normal, indicating integrity of other small (Aδ and C) nerve fibers. She was initially treated with propranolol with good response, but was subsequently switched to atenolol for convenient once-a-day dosing. Symptoms were well controlled long term with no side effect experienced. Atenolol may exert its effect in AP through blockage of over-activated neuronal sodium channels. Through the investigations, we propose that the pathogenesis of idiopathic AP may involve the following: upon contact of the skin with water, yet-unknown mediator/s released stimulate dysfunctional and hyper-innervated C-nerve fibers, which may have resulted from a sodium channel defect. Atenolol may be a preferred therapeutic option compared with propanolol, in view of its convenient once-a-day dosing and better side effect profile.

Congenital combined melanocytic nevus of the scalp with associated alopecia areata.

We report a case of a 20-year-old Chinese man with an alopecic congenital combined compound and blue melanocytic nevus of the scalp, associated with alopecia areata. The diagnosis of a combined melanocytic nevus was confirmed by histopathological examination and immunohistochemical stains, with exclusion of neurocristic hamartoma, which can have a similar clinical and histopathological appearance but different prognosis. In addition, we explore the association of this large melanocytic lesion with alopecia areata.

Case Report of a Novel Association between Anti-p200 Pemphigoid and Acquired Haemophilia A.

Anti-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. In this case report, we describe a 53-year-old gentleman with recently diagnosed acquired hemophilia A who developed a concurrent vesiculobullous eruption and was evaluated to have anti-p200 pemphigoid. Both of his conditions were controlled with immunosuppression via prednisolone and cyclophosphamide. While we acknowledge the contemporaneous occurrence of both diseases in this patient may be a mere coincidence, it is important to recognize the possibility of this association given the potential clinical significance. Whether the activity of one disease parallels the other will require further evaluation.

Unique Clinical, Radiological and Histopathological Characteristics of a Southeast Asian Cohort of Patients with Limb-Girdle Muscular Dystrophy 2G/LGMD-R7-Telethonin-Related.

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. RESULTS: At onset, three patients presented with proximal lower limb weakness, one patient presented with Achilles tendon contractures, and one patient presented with delayed gross motor milestones. At last follow up, three patients had a limb girdle pattern of muscle weakness and two had a facioscapular humeral pattern of weakness. Whole body muscle MRI performed for one patient with a facioscapular-humeral pattern of weakness showed a pattern of muscle atrophy similar to facioscapular-humeral dystrophy. One patient had histological features consistent with myofibrillar myopathy; electron microscopy confirmed the disruption of myofibrillar architecture. One patients also had reduced staining to telethonin antibody on immunohistochemistry. CONCLUSION: We report the unique clinical and histological features of a Southeast Asian cohort of five patients with LGMD2G/LGMD-R7-telethonin-related muscular dystrophy and further expand its clinical and histopathological spectrum.