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Tanapox is a rarely diagnosed zoonosis known to be endemic to equatorial Africa. All previously reported human cases were acquired within 10° north or south of the Equator, most recently 19 years ago. We describe a human case of tanapox in South Africa (24° south of the Equator). Expanded surveillance for this pathogen is warranted.

Emergomycosis is a recently described emerging opportunistic fungal infection among individuals living with HIV, in whom it is a cause of significant mortality and morbidity. This article retrospectively reports on a presumptive case of extensive cutaneous emergomycosis in a young immunocompromised patient from Lesotho. The histopathological features on skin biopsy were in keeping with emergomyces infection. The lesions responded to treatment with amphotericin B and oral fluconazole. Contribution: This case contributes to the existing evidence that as an emergent opportunistic infection, emergomycosis is possibly widespread in Africa but the true extend of the disease is not fully defined. This is further aggravated by the diagnostic difficulty as a result of limited resources in some areas in the region.

Background Emergomycosis, histoplasmosis, sporotrichosis and blastomycosis are endemic to southern Africa; the first two are AIDS-related mycoses. We described laboratory-diagnosed cases of endemic and imported mycoses in South Africa over a decade and discuss available diagnostic tools, reasons for the current under-estimation of cases and future strategies to improve case ascertainment. Materials and methods We analysed electronic pathology laboratory data from all public laboratories and one large private laboratory in South Africa from 2010–2020. Diagnostic specimens processed at the national mycology reference laboratory were also included. We classified cases as proven, probable and possible based on the method of identification. Results We identified 682 cases, of which 307 were proven, 279 were probable and 96 were possible. Of 307 culture-confirmed cases, 168 were identified by phenotypic methods plus sequencing, 128 by phenotypic methods alone and 11 by direct PCR. Of 279 probable cases, 176 had yeasts observed on histology, 100 had a positive Histoplasma antigen test and 3 a positive pan-dimorphic PCR test. All 96 possible cases had compatible clinical syndrome with inflammatory infiltrates on skin tissue histology. A majority of cases had an unspecified endemic mycosis (207/682, 30.4%), followed by sporotrichosis (170/682, 24.9%), emergomycosis (154/682, 22.6%), histoplasmosis (133/682, 19.5%), blastomycosis (14/682, 2.1%) and talaromycosis (4/682, 0.6%). Conclusions This study reports a relatively low number of cases over a decade considering an estimated large population at risk, suggesting that a substantial fraction of cases may remain undiagnosed. There is a need to increase awareness among healthcare workers and to develop rapid point-of-care diagnostic tools and make these widely accessible. Author summary Emergomycosis, histoplasmosis, sporotrichosis and blastomycosis are serious fungal diseases which occur in southern Africa among people with either healthy or weakened immune systems. These fungal diseases may be missed because they mimic other diseases, occur together with other conditions that mask their presence or are simply not considered by healthcare workers. There are very few available simple diagnostic tests and most African countries do not conduct fungal disease surveillance. We described cases of these fungal diseases, which had been diagnosed in South African laboratories, from 2010–2020. We identified 682 cases, of which 307 were proven, 279 were probable and 96 were possible based on the available clinical and laboratory information. A majority of cases could not be allocated to one of the four disease types and were classified as unspecific endemic mycoses (30.4%). The remainder were sporotrichosis (24.9%), emergomycosis (22.3%), histoplasmosis (19.5%), blastomycosis (2.1%) and a travel-associated infection, talaromycosis (0.6%). We found relatively few cases considering the large population at risk. We believe that this could be due to the above-mentioned issues and insufficient expertise in diagnostic laboratories. There is a need to increase awareness among healthcare workers and to develop rapid point-of-care diagnostic tools and make these widely accessible.

Scleroderma is a rare complication of carcinoid syndrome and is usually encountered in the setting of a metastatic primary neuroendocrine tumour of the distal ileum. Associated endocardial fibrosis is a frequent finding and the condition carries a poor prognosis. We report a case of scleroderma occurring in a 72-year-old female with metastatic neuroendocrine carcinoma and associated pericardial fibrosis. The use of an alternative nomenclature such as “scleroderma-like” or “sclerodermoid” disease is proposed in order to emphasise its distinction from true idiopathic scleroderma, despite the histopathological similarities on skin biopsy.

Giant congenital melanocytic naevi (GCN) are rare, disfiguring lesions which carry a significant risk of malignant transformation. Melanoma is the most common malignancy documented in association with these lesions. Although exceedingly rare, other malignant neoplasms, including mesenchymal tumours such as rhabdomyosarcoma (RMS), may complicate GCN. This report documents a fatal embryonal RMS arising in a GCN on the distal left lower limb of a 4-month-old female infant, who had ipsilateral inguinal lymph node metastases at the time of presentation. To date there have been only 7 prior reports in the English literature of RMS complicating GCN. Differential diagnoses include small cell melanoma, rhabdoid melanoma, and melanoma with divergent RMS differentiation. A distinction between the latter and de novo RMS arising in GCN may have potential prognostic and therapeutic implications.

The rickettsiae are a diverse group of vector-borne zoonotic bacterial pathogens. The two common spotted fever diseases in existence in southern Africa are boutonneuse fever-like tick bite fever (TBF), caused by Rickettsia conorii, and African TBF, caused by R. africae. This review addresses demographic, epidemiological, clinical, diagnostic, therapeutic, and preventive aspects of TBF in the southern African context, including a discussion of the dermatopathological findings and potential diagnostic pitfalls.

In 2013, a novel thermally dimorphic fungal pathogen was described to cause disseminated disease among persons living with advanced HIV/AIDS in South Africa. Although the organism was initially described as an Emmonsia-like fungus, it is now known to belong to a new genus of thermally dimorphic fungi and was recently named Emergomyces africanus. There is considerable clinical and histopathological overlap between emergomycosis and histoplasmosis. This review addresses taxonomic, clinical, diagnostic, and therapeutic aspects of Es. africanus disease, a condition which has, to date, only been reported from southern Africa.

Background: The global mortality from HIV and the cutaneous burden of infective, inflammatory and malignant diseases in the setting of AIDS have significantly declined following the advent of highly active antiretroviral therapy. Regrettably, there has been a contemporaneous escalation in the incidence of adverse cutaneous drug reactions (ACDR), with studies attesting that HIV-positive individuals are a hundred times more susceptible to drug reactions than the general population, and advanced immunodeficiency portending an even greater risk. Several variables are accountable for this amplified risk in HIV. Summary: Adverse reactions to trimethoprim-sulfamethoxazole are the most common, increasing from approximately 2–8% in the general population over to 43% amongst HIV-positive individuals to approximately 69% in subjects with AIDS. Antituberculosis drugs and antiretrovirals are also well-known instigators of ACDR. Cutaneous reactions range from mild morbilliform eruptions to severe, life-threatening manifestations in the form of Stevens-Johnson syndrome/toxic epidermal necrolysis. Histological features vary from vacuolar interface changes to full-thickness epidermal necrosis with subepidermal blister formation. A precipitous diagnosis of the ACDR, clinically and histologically if necessary, together with the isolation of the causative drug is critical. The identification process, however, is often complex and multifaceted due to polypharmacy and inconclusive data on which drugs are the most likely offending agents, especially against the background of tuberculosis co-infection. Key Messages: Whilst milder cutaneous reactions are treated symptomatically, severe reactions mandate immediate treatment discontinuation without rechallenge. Further studies are required to establish safe rechallenge guidelines in resource-limited settings with a high HIV and tuberculosis prevalence.

Keratolytic winter erythema (KWE) is a rare autosomal dominant keratoderma affecting primarily the palms and soles, manifesting with recurrent waves of erythema followed by epidermal peeling. The condition is so named in view of its anecdotal worsening during the winter months. It is highly penetrant but shows considerable individual clinical variability, waning and reappearing throughout the life course. Histologically, early established lesions of KWE manifest with degenerative changes involving the Malpighian layer, with associated absence of the stratum granulosum. The damaged zone undergoes parakeratotic transformation and subsequent centrifugal ejection. Thick peeling occurs when the stratum corneum eventually separates off as a result of a keratolytic split occurring above, through or below the parakeratotic zone. Reconstitution of the stratum granulosum ensues. KWE is caused by a duplication of an intergenic enhancer element upstream of the cathepsin B gene on chromosome 8. This leads to the upregulation of cathepsin B in the stratum granulosum and subsequent peeling of the epidermis as the end result. With elucidation of the molecular pathology of KWE, new therapeutic approaches to KWE may be considered.

Malignant chondroid syringoma (MCS; malignant mixed tumour) is a rare neoplasm typically arising on the extremities and trunk. We are report 2 unique cases of MCS, one occurring on the scalp of a 78-year-old man and the other on the trunk of a 72-year-old woman. Both tumours harboured malignant epithelial and malignant mesenchymal components. The latter was represented by liposarcoma in the first case. The malignant components of the second tumour comprised spindle cell squamous cell carcinoma (SCC) and osteosarcoma. Origin from a pre-existing benign chondroid syringoma was clearly evident in both neoplasms. The presence of heterologous malignant mesenchymal components, however, is hitherto unreported in the context of MCS, while a spindle cell SCC component is exceptionally rare. The 2 cases presented herein highlight an expanded morphological spectrum of MCS, with resultant blurring of the boundaries between MCS and cutaneous carcinosarcoma.

Background: Epstein-Barr virus-associated smooth muscle tumours (EBV-SMTs) are rare neoplasms of uncertain biological potential. They are seen in the setting of immune suppression from a variety of causes, including HIV infection and post-transplant immunosuppression. Most of the literature pertaining to these neoplasms comprises case reports and small case series, with a dearth of documented cases from South Africa. Objective: To expand on the literature of these rare neoplasms in the South African context, with an emphasis on a subset showing a predilection for the cutaneous soft tissues. Method: Twenty-one EBV-SMTs from 19 consecutive patients were retrieved from the archives of the Division of Anatomical Pathology in the Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, and the National Health Laboratory Service. Clinical and pathological characteristics of each case were recorded, including patient age, tumour site, H&E morphology, immunophenotypic features and the tumoural EBV status. Results: The patients’ ages ranged from 12 to 63 years, with a mean of 36 years. Thirteen (68%) of the patients in whom the HIV status was known were HIV-positive. Two of the 19 patients each had 2 tumours, thus accounting for the total of 21 neoplasms studied. Although 12 of the 21 tumours (57.1%) were from a variety of visceral organs, 9 (42.9%) originated in the dermis and superficial subcutaneous tissues, making the cutaneous soft tissues the most commonly affected site. Morphologically, all of the neoplasms were characterised by fascicles of myoid cells, admixed rounder tumour cells, scattered intratumoural lymphocytes and variable immunohistochemical staining with markers of smooth muscle differentiation. All 21 neoplasms were proven to harbour EBV DNA. Conclusion: A significant proportion of EBV-SMTs may present in the cutaneous soft tissues. This neoplasm should, therefore, be included in the histopathological differential diagnosis of any cutaneous or superficial subcutaneous spindle cell tumour, especially in patients with a history of underlying immune suppression. Accurate diagnosis thereof and its distinction from other spindle cell neoplasms is important in view of management implications and the potential for multicentricity in some patients.

Disseminated Acanthamoeba species infection is likely an underrecognized and underdiagnosed opportunistic infection in patients with advanced human immunodeficiency virus (HIV) disease in South Africa. It presents a unique clinical challenge in that the diagnosis can be difficult to establish and management options are limited in low-resource settings. To our knowledge, there is a paucity of literature to date on the successful use of combination treatment options for patients in low-resource settings without access to miltefosine. We present a case describing the clinical improvement of disseminated Acanthamoeba infection in a patient with advanced HIV using a non-miltefosine-based treatment regimen. The case serves to highlight that Acanthamoeba sp. infection should be considered as a differential diagnosis for nodular and ulcerative cutaneous lesions in patients with advanced HIV in South Africa, and that although there are alternative options for combination treatment in countries without access to miltefosine, efforts should be made to advocate for better access to miltefosine for the treatment of acanthamoebiasis in South Africa.

Chronic infection with hepatitis B virus (HBV) remains a problem of global significance and improving available treatment is important to prevent life-threatening complications arising in persistently infected individuals. HBV is susceptible to silencing by exogenous artificial intermediates of the RNA interference (RNAi) pathway. However, toxicity of Pol III cassettes and short duration of silencing by effectors of the RNAi pathway may limit anti-HBV therapeutic utility. To advance RNAi-based HBV gene silencing, mono- and trimeric artificial primary microRNAs (pri-miRs) derived from pri-miR-31 were placed under control of the liver-specific modified murine transthyretin promoter. The sequences, which target the X sequence of HBV, were incorporated into recombinant hepatotropic self-complementary adeno-associated viruses (scAAVs). Systemic intravenous injection of the vectors into HBV transgenic mice at a dose of 1 × 1011 per animal effected significant suppression of markers of HBV replication for at least 32 weeks. The pri-miRs were processed according to the intended design, and intrahepatic antiviral guide sequences were detectable for 40 weeks after the injection. There was no evidence of toxicity, and innate immunostimulation was not detectable following the injections. This efficacy is an improvement on previously reported RNAi-based inhibition of HBV replication and is important to clinical translation of the technology.

Fumarate hydratase-deficient renal cell carcinoma is strongly correlated with fumarate hydratase mutation and hereditary leiomyomatosis and renal cell carcinoma syndrome. The list of such studies would include important and clinically relevant topics such as oncocytic papillary renal cell carcinoma,[3] following the first KTF meeting, where Ondrej and colleagues examined clinicopathologic, immunohistochemical, ultrastructural, and interphase cytogenetic features of 12 papillary RCC with oncocytic features. 16 Hes O, Comperat EM, Rioux-Leclercq N. Clear cell papillary renal cell carcinoma, renal angiomyoadenomatous tumor, and renal cell carcinoma with leiomyomatous stroma relationship of 3 types of renal tumors: a review. Renal cell carcinoma with areas mimicking renal angiomyoadenomatous tumor/clear cell papillary renal cell carcinoma. [Extracted from the article]

Tanapox is a rarely diagnosed zoonosis known to be endemic to equatorial Africa. All previously reported human cases were acquired within 10° north or south of the Equator, most recently 19 years ago. We describe a human case of tanapox in South Africa (24° south of the Equator). Expanded surveillance for this pathogen is warranted. [ABSTRACT FROM AUTHOR]

Background: Emergomycosis, histoplasmosis, sporotrichosis and blastomycosis are endemic to southern Africa; the first two are AIDS-related mycoses. We described laboratory-diagnosed cases of endemic and imported mycoses in South Africa over a decade and discuss available diagnostic tools, reasons for the current under-estimation of cases and future strategies to improve case ascertainment. Materials and methods: We analysed electronic pathology laboratory data from all public laboratories and one large private laboratory in South Africa from 2010–2020. Diagnostic specimens processed at the national mycology reference laboratory were also included. We classified cases as proven, probable and possible based on the method of identification. Results: We identified 682 cases, of which 307 were proven, 279 were probable and 96 were possible. Of 307 culture-confirmed cases, 168 were identified by phenotypic methods plus sequencing, 128 by phenotypic methods alone and 11 by direct PCR. Of 279 probable cases, 176 had yeasts observed on histology, 100 had a positive Histoplasma antigen test and 3 a positive pan-dimorphic PCR test. All 96 possible cases had compatible clinical syndrome with inflammatory infiltrates on skin tissue histology. A majority of cases had an unspecified endemic mycosis (207/682, 30.4%), followed by sporotrichosis (170/682, 24.9%), emergomycosis (154/682, 22.6%), histoplasmosis (133/682, 19.5%), blastomycosis (14/682, 2.1%) and talaromycosis (4/682, 0.6%). Conclusions: This study reports a relatively low number of cases over a decade considering an estimated large population at risk, suggesting that a substantial fraction of cases may remain undiagnosed. There is a need to increase awareness among healthcare workers and to develop rapid point-of-care diagnostic tools and make these widely accessible. Author summary: Emergomycosis, histoplasmosis, sporotrichosis and blastomycosis are serious fungal diseases which occur in southern Africa among people with either healthy or weakened immune systems. These fungal diseases may be missed because they mimic other diseases, occur together with other conditions that mask their presence or are simply not considered by healthcare workers. There are very few available simple diagnostic tests and most African countries do not conduct fungal disease surveillance. We described cases of these fungal diseases, which had been diagnosed in South African laboratories, from 2010–2020. We identified 682 cases, of which 307 were proven, 279 were probable and 96 were possible based on the available clinical and laboratory information. A majority of cases could not be allocated to one of the four disease types and were classified as unspecific endemic mycoses (30.4%). The remainder were sporotrichosis (24.9%), emergomycosis (22.3%), histoplasmosis (19.5%), blastomycosis (2.1%) and a travel-associated infection, talaromycosis (0.6%). We found relatively few cases considering the large population at risk. We believe that this could be due to the above-mentioned issues and insufficient expertise in diagnostic laboratories. There is a need to increase awareness among healthcare workers and to develop rapid point-of-care diagnostic tools and make these widely accessible. [ABSTRACT FROM AUTHOR]

The term en coup de sabre morphea refers to a lesion of linear morphea typically located in the frontoparietal scalp and/or the paramedian forehead, often resembling a strike with a sword. In literature, en coup de sabre morphea, and en coup de sabre scleroderma are terms used interchangeably and synonymously. Due to the rarity of this condition, treatment is largely based on case report series, leaving much room for speculation in terms of drugs of choice, duration of treatment, and dosages. Although it typically leaves behind notable and often permanent skin pigmentary changes and indentation of the affected areas, this condition usually remits spontaneously, even in the absence of an active form of treatment. The disease severity and prognosis vary according to the subtype: circumscribed morphea has a generally more benign course when compared with linear scleroderma and generalized morphea. [ABSTRACT FROM AUTHOR]

Endometrial carcinomas are common female genital tract malignancies. Western countries identified BRAF mutations in very few endometrial carcinomas, whilst an Eastern study documented mutations in one-fifth of endometrial carcinomas. We aimed to assess BRAF mutations in an ethnically mixed South African patient population using immunohistochemistry (IHC), polymerase chain reaction (PCR) and Sanger sequencing in relation to MLH1 methylation. A total of 145 endometrioid endometrial carcinoma cases were retrieved from departmental archives and underwent MLH1, MSH2, MSH6 and PMS2 IHC testing. The 37 cases that showed MLH1 loss underwent BRAF IHC, PCR and Sanger sequencing. Six out of 37 cases demonstrated BRAF mutations: 4 were identified by PCR, whilst IHC and Sanger sequencing identified one mutation each. Three PCR mutations were at the V600E codon, whilst 1 case had a V600D mutation. Agreement between IHC versus overall BRAF mutational status, and sequencing versus overall mutational status, was 86.49% (p-value < 0.005). There was agreement of 94.59% between PCR and overall mutational status with statistically significant, moderate non-random concordance (kappa = 0.77, p = 0.0001). BRAF mutations were identified in 16.21% of cases, which is higher than frequencies noted in Western studies, but less than in an Eastern study. There was no association between MLH1 methylation and BRAF status in endometrial carcinomas from our patient population (kappa = −0.0223, p = 0.6649). Our results in endometrial carcinomas, similar to findings from Western studies, indicate that BRAF mutations are not beneficial in distinguishing which patients have spontaneously occurring tumours from those who may harbour germline mutations and are suspected of having Lynch syndrome. [ABSTRACT FROM AUTHOR]

Endometrial carcinomas are common gynecological malignancies. Microsatellite instability and mismatch repair deficiency may be detected in endometrial carcinomas and tumours associated with Lynch syndrome. We aimed to compare results obtained using immunohistochemical mismatch repair (MMR) antibodies and polymerase chain reaction (PCR) for microsatellite instability (MSI) on endometrioid endometrial carcinomas (EEC) at a South African state hospital. Once ethical clearance was obtained, 145 cases of EEC were retrieved. These cases were subjected to immunohistochemistry (IHC) for MLH1, PMS2, MSH6 and MSH2 antibodies; and multiplex MSI PCR for the markers BAT-25, BAT-26, NR-27, NR-24, and NR-21. Cases demonstrating MMR and MSI discordance and cases showing loss of MLH1 staining then underwent MLH1 promoter methylation testing. Mismatch repair deficiency was noted in 28.28% of 145 cases, whilst 37.1% showed MSI by PCR. The overall accuracy was 69.29%. There were 37 cases showing loss of MLH1 staining and MMR/MSI discordance was detected in 25 cases. These cases underwent hypermethylation assessment which was identified in 72.13% of cases. The current study shows that 25 (17.24%) out of 145 cases would not have had abnormalities identified if PCR MSI had not been performed and would not have been flagged as having a possible germline mutation. Most (68%) of these 25 cases were hypermethylated. We therefore recommend that endometrial carcinomas undergo both screening tests in South Africa for patients under the age of 70 years. Tissue specimens may be tested for MSH6 and PMS2 immunohistochemical stains in addition to PCR MSI testing. [ABSTRACT FROM AUTHOR]

The rickettsiae are a diverse group of vector-borne zoonotic bacterial pathogens. The two common spotted fever diseases in existence in southern Africa are boutonneuse fever-like tick bite fever (TBF), caused by Rickettsia conorii, and African TBF, caused by R. africae. This review addresses demographic, epidemiological, clinical, diagnostic, therapeutic, and preventive aspects of TBF in the southern African context, including a discussion of the dermatopathological findings and potential diagnostic pitfalls. [ABSTRACT FROM AUTHOR]

Background: Epstein-Barr virus-associated smooth muscle tumours (EBV-SMTs) are rare neoplasms of uncertain biological potential. They are seen in the setting of immune suppression from a variety of causes, including HIV infection and post-transplant immunosuppression. Most of the literature pertaining to these neoplasms comprises case reports and small case series, with a dearth of documented cases from South Africa. Objective: To expand on the literature of these rare neoplasms in the South African context, with an emphasis on a subset showing a predilection for the cutaneous soft tissues. Method: Twenty-one EBV-SMTs from 19 consecutive patients were retrieved from the archives of the Division of Anatomical Pathology in the Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, and the National Health Laboratory Service. Clinical and pathological characteristics of each case were recorded, including patient age, tumour site, H&E morphology, immunophenotypic features and the tumoural EBV status. Results: The patients' ages ranged from 12 to 63 years, with a mean of 36 years. Thirteen (68%) of the patients in whom the HIV status was known were HIV-positive. Two of the 19 patients each had 2 tumours, thus accounting for the total of 21 neoplasms studied. Although 12 of the 21 tumours (57.1%) were from a variety of visceral organs, 9 (42.9%) originated in the dermis and superficial subcutaneous tissues, making the cutaneous soft tissues the most commonly affected site. Morphologically, all of the neoplasms were characterised by fascicles of myoid cells, admixed rounder tumour cells, scattered intratumoural lymphocytes and variable immunohistochemical staining with markers of smooth muscle differentiation. All 21 neoplasms were proven to harbour EBV DNA. Conclusion: A significant proportion of EBV-SMTs may present in the cutaneous soft tissues. This neoplasm should, therefore, be included in the histopathological differential diagnosis of any cutaneous or superficial subcutaneous spindle cell tumour, especially in patients with a history of underlying immune suppression. Accurate diagnosis thereof and its distinction from other spindle cell neoplasms is important in view of management implications and the potential for multicentricity in some patients. [ABSTRACT FROM AUTHOR]

Background: The global mortality from HIV and the cutaneous burden of infective, inflammatory and malignant diseases in the setting of AIDS have significantly declined following the advent of highly active antiretroviral therapy. Regrettably, there has been a contemporaneous escalation in the incidence of adverse cutaneous drug reactions (ACDR), with studies attesting that HIV-positive individuals are a hundred times more susceptible to drug reactions than the general population, and advanced immunodeficiency portending an even greater risk. Several variables are accountable for this amplified risk in HIV. Summary: Adverse reactions to trimethoprim-sulfamethoxazole are the most common, increasing from approximately 2–8% in the general population over to 43% amongst HIV-positive individuals to approximately 69% in subjects with AIDS. Antituberculosis drugs and antiretrovirals are also well-known instigators of ACDR. Cutaneous reactions range from mild morbilliform eruptions to severe, life-threatening manifestations in the form of Stevens-Johnson syndrome/toxic epidermal necrolysis. Histological features vary from vacuolar interface changes to full-thickness epidermal necrosis with subepidermal blister formation. A precipitous diagnosis of the ACDR, clinically and histologically if necessary, together with the isolation of the causative drug is critical. The identification process, however, is often complex and multifaceted due to polypharmacy and inconclusive data on which drugs are the most likely offending agents, especially against the background of tuberculosis co-infection. Key Messages: Whilst milder cutaneous reactions are treated symptomatically, severe reactions mandate immediate treatment discontinuation without rechallenge. Further studies are required to establish safe rechallenge guidelines in resource-limited settings with a high HIV and tuberculosis prevalence. [ABSTRACT FROM AUTHOR]

Scleroderma is a rare complication of carcinoid syndrome and is usually encountered in the setting of a metastatic primary neuroendocrine tumour of the distal ileum. Associated endocardial fibrosis is a frequent finding and the condition carries a poor prognosis. We report a case of scleroderma occurring in a 72-year-old female with metastatic neuroendocrine carcinoma and associated pericardial fibrosis. The use of an alternative nomenclature such as "scleroderma-like" or "sclerodermoid" disease is proposed in order to emphasise its distinction from true idiopathic scleroderma, despite the histopathological similarities on skin biopsy. [ABSTRACT FROM AUTHOR]

Keratolytic winter erythema (KWE) is a rare autosomal dominant keratoderma affecting primarily the palms and soles, manifesting with recurrent waves of erythema followed by epidermal peeling. The condition is so named in view of its anecdotal worsening during the winter months. It is highly penetrant but shows considerable individual clinical variability, waning and reappearing throughout the life course. Histologically, early established lesions of KWE manifest with degenerative changes involving the Malpighian layer, with associated absence of the stratum granulosum. The damaged zone undergoes parakeratotic transformation and subsequent centrifugal ejection. Thick peeling occurs when the stratum corneum eventually separates off as a result of a keratolytic split occurring above, through or below the parakeratotic zone. Reconstitution of the stratum granulosum ensues. KWE is caused by a duplication of an intergenic enhancer element upstream of the cathepsin B gene on chromosome 8. This leads to the upregulation of cathepsin B in the stratum granulosum and subsequent peeling of the epidermis as the end result. With elucidation of the molecular pathology of KWE, new therapeutic approaches to KWE may be considered. [ABSTRACT FROM AUTHOR]

Giant congenital melanocytic naevi (GCN) are rare, disfiguring lesions which carry a significant risk of malignant transformation. Melanoma is the most common malignancy documented in association with these lesions. Although exceedingly rare, other malignant neoplasms, including mesenchymal tumours such as rhabdomyosarcoma (RMS), may complicate GCN. This report documents a fatal embryonal RMS arising in a GCN on the distal left lower limb of a 4-month-old female infant, who had ipsilateral inguinal lymph node metastases at the time of presentation. To date there have been only 7 prior reports in the English literature of RMS complicating GCN. Differential diagnoses include small cell melanoma, rhabdoid melanoma, and melanoma with divergent RMS differentiation. A distinction between the latter and de novo RMS arising in GCN may have potential prognostic and therapeutic implications. [ABSTRACT FROM AUTHOR]

Malignant chondroid syringoma (MCS; malignant mixed tumour) is a rare neoplasm typically arising on the extremities and trunk. We are report 2 unique cases of MCS, one occurring on the scalp of a 78-year-old man and the other on the trunk of a 72-year-old woman. Both tumours harboured malignant epithelial and malignant mesenchymal components. The latter was represented by liposarcoma in the first case. The malignant components of the second tumour comprised spindle cell squamous cell carcinoma (SCC) and osteosarcoma. Origin from a pre-existing benign chondroid syringoma was clearly evident in both neoplasms. The presence of heterologous malignant mesenchymal components, however, is hitherto unreported in the context of MCS, while a spindle cell SCC component is exceptionally rare. The 2 cases presented herein highlight an expanded morphological spectrum of MCS, with resultant blurring of the boundaries between MCS and cutaneous carcinosarcoma. [ABSTRACT FROM AUTHOR]

In 2013, a novel thermally dimorphic fungal pathogen was described to cause disseminated disease among persons living with advanced HIV/AIDS in South Africa. Although the organism was initially described as an Emmonsia-like fungus, it is now known to belong to a new genus of thermally dimorphic fungi and was recently named Emergomyces africanus. There is considerable clinical and histopathological overlap between emergomycosis and histoplasmosis. This review addresses taxonomic, clinical, diagnostic, and therapeutic aspects of Es. africanus disease, a condition which has, to date, only been reported from southern Africa. [ABSTRACT FROM AUTHOR]

Thanks to the efforts of our reviewers in 2022, the median time to first decision was 40 days and the median time to publication was 63 days. High-quality academic publishing is built on rigorous peer review. I Dermatopathology i was able to uphold its high standards for published papers due to the outstanding efforts of our reviewers. [Extracted from the article]

Background: We describe the geographic distribution, clinical characteristics, and management of patients with disease caused by Emmonsia sp., a novel dimorphic fungal pathogen recently described in South Africa. Methods: We performed a multicenter, retrospective chart review of laboratory-confirmed cases of emmonsiosis diagnosed across South Africa from January 2008 through February 2015. Results: Fifty-four patients were diagnosed in 5/9 provinces. Fifty-one patients (94%) were human immunodeficiency virus coinfected (median CD4 count 16 cells/μL [interquartile range, 6-40]). In 12 (24%) of these, antiretroviral therapy had been initiated in the preceding 2 months. All patients had disseminated disease, most commonly involving skin (n = 50/52, 96%) and lung (n = 42/48, 88%). Yeasts were visualized on histopathologic examination of skin (n = 34/37), respiratory tissue (n = 2/4), brain (n = 1/1), liver (n = 1/2), and bone marrow (n = 1/15). Emmonsia sp. was cultured from skin biopsy (n = 20/28), mycobacterial/fungal and aerobic blood culture (n = 15/25 and n = 9/37, respectively), bone marrow (n = 12/14), lung (n = 1/1), lymph node (n = 1/1), and brain (n = 1/1). Twenty-four of 34 patients (71%) treated with amphotericin B deoxycholate, 4/12 (33%) treated with a triazole alone, and none of 8 (0%) who received no antifungals survived. Twenty-six patients (48%) died, half undiagnosed. Conclusions: Disseminated emmonsiosis is more widespread in South Africa and carries a higher case fatality rate than previously appreciated. Cutaneous involvement is near universal, and skin biopsy can be used to diagnose the majority of patients. [ABSTRACT FROM AUTHOR]

Background: Classic-sporadic Kaposi's sarcoma is a clinical variant of the broad spectrum of Kaposi's sarcoma, and represents an angioproliferative rare disorder whose development is caused by human herpesvirus 8 (HHV-8) infection; also known as Kaposi's sarcoma-associated herpesvirus (KSHV). The tumour appears to have an indolent course and good prognosis. Case Report: Herein, we present the rare case of a 90-year-old Greek woman who presented with a 5-month history of a painful indurated area in the lower inner half of her left thigh, covered with multiple red, brown and bluish plaques and nodules. Symptoms were not specific of the disease. Excisional biopsy of a lesion confirmed Kaposi's sarcoma. Due to extensive disease, the patient was offered radiotherapy as apposite treatment. Three months later, the lesion displayed a remarkable remission. Conclusions: Treatment for classic Kaposi's sarcoma is not standard; it should be tailored to each individual case. Radiotherapy seems to offer the best treatment option for locally advanced symptomatic disease, while surgery may be of benefit to solitary or small superficial lesions. Despite the rarity of this tumour, surgeons, oncologists, and dermatologists need to be very suspicious when faced with such unusual lesions on the extremities. [ABSTRACT FROM AUTHOR]

McKee P H (2010) Histopathology 56, 100–111 Clues to the diagnosis of atypical melanocytic lesions This review, based on a lecture given at the 2009 Update in Dermatopathology meeting held at the Institute of Dermatology (London, UK), discusses the problem of misdiagnosing atypical benign melanocytic lesions as melanoma and the alternative problem of interpreting naevoid melanoma as a banal naevus. Consequences are considered. Brief consideration of a range of other melanoma variants that may be a source of diagnostic difficulty is also included. [ABSTRACT FROM AUTHOR]

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This review provides a comprehensive overview of the broad clinicopathologic spectrum of cutaneous Kaposi sarcoma (KS) lesions. Variants discussed include: usual KS lesions associated with disease progression (i.e. patch, plaque and nodular stage); morphologic subtypes alluded to in the older literature such as anaplastic and telangiectatic KS, as well as several lymphedematous variants; and numerous recently described variants including hyperkeratotic, keloidal, micronodular, pyogenic granuloma-like, ecchymotic, and intravascular KS. Involuting lesions as a result of treatment related regression are also presented. [ABSTRACT FROM AUTHOR]

A subject index for the January 2007 issue of the "Journal of Cutaneous Pathology" is presented.

Background Papular and follicular eruptions, such as papulopruritic eruption, eosinophilic folliculitis, and infective folliculitis, are relatively common disorders in patients infected with the human immunodeficiency virus (HIV). These conditions may show considerable clinical overlap. Objective To assess the relative proportion of pruritic papular cutaneous eruptions in South Africans with HIV-associated dermatoses, and to correlate the clinical and histologic features of these lesions. Methods The clinical and histologic features of papular follicular eruptions were correlated in 40 consecutive black HIV-positive patients who underwent skin biopsy. Results The clinical features were similar in all patients and consisted of widespread papules and pustules involving the face, limbs, and trunk. The most common histologic finding was acute suppurative folliculitis, seen in 27 patients (67.5%). In most cases, no cause was found for the suppuration. Papulopruritic eruption of HIV was diagnosed in six patients (15%), HIV-associated eosinophilic folliculitis in four (10%), Pityrosporum folliculitis in two (5%), and acne in one (2.5%). Concordance between the initial clinical diagnosis and the final histopathologic diagnosis was achieved in only 27.5% of cases. Conclusion Skin biopsy remains an important adjunct to the correct diagnosis and classification of papular and follicular eruptions in HIV-positive patients. [ABSTRACT FROM AUTHOR]

Presents the author index for the November 2005 issue of the "Journal of Cutaneous Pathology."

Mutations inβ-catenin are present in benign pilomatrixomas.β-catenin is a downstream effector in the WNT-signalling pathway, acting as a signal for differentiation and proliferation. Mutations inCTNNB1, the gene encodingβ-catenin, are present in a wide variety of benign and malignant neoplasms. We examinedβ-catenin in a series of pilomatrix carcinomas (15 cases) by using immunohistochemistry and DNA sequencing of exon 3 fromCTNNB1, and compared these to a series of benign pilomatrixomas (13 cases). All 11 pilomatrix carcinomas available for examination showed nuclear localization ofβ-catenin and mutations in exon 3 similar to those demonstrated in benign pilomatrixomas. Two of 11 pilomatrix carcinomas showed significant nuclear accumulation of p53, whereas this was absent in all 13 benign pilomatrixomas. Expression of nuclear cyclin D1 was similar in both benign pilomatrixomas and pilomatrix carcinomas. Clinical follow-up from the 15 malignant cases reported in this study and by others indicates that wide excision offers superior control of local recurrence, compared to simple excision. Immunohistochemical and molecular analysis ofβ-catenin reveals that both pilomatrix carcinomas and benign pilomatrixomas harbour mutations inβ-catenin. This implies a common initial pathogenesis and is compatible with the proposition that pilomatrix carcinomas may at least on occasion arise from their benign counterparts.Lazar AJF, Calonje E, Grayson W, Dei Tos AP, Mihm Jr MC, Redston M, McKee PH. Pilomatrix carcinomas contain mutations inCTNNB1, the gene encodingβ-catenin. [ABSTRACT FROM AUTHOR]

Examines the psychological aspects of the motion picture 'Batman Forever.' Identification of the film as a mass-mediated public text used to resolve psycho-sexual ambiguities; Analysis on the different representation of the characters of the film; Determination of insidious form of repression as film element.