Diffuse neonatal hemangiomatosis with a single atypical cutaneous hemangioma.

Diffuse neonatal hemangiomatosis (DNH) is an extremely rare but deadly neonatal condition which presents as multiple cutaneous hemangiomas and hemangiomas in 3 or more visceral organs. DNH is usually suspected when multiple hemangiomas are found on the skin of the baby. We hereby present an interesting case in a newborn whose diagnosis was made from multiple intracranial, hepatic, and intramuscular hemangiomas, but with a single and unusual cutaneous manifestation over the right ankle. The patient was asymptomatic at the time of diagnosis. Due to the solitary nature of skin lesion, this report might contribute to a redefining of the term DNH.

Adult-onset immunodeficiency due to anti-interferon-gamma autoantibody-associated Sweet syndrome: A distinctive entity.

Sweet syndrome (SS) has been increasingly reported in patients with adult-onset immunodeficiency (AOID) due to anti-interferon-γ autoantibody who also have concomitant opportunistic infections, especially disseminated non-tuberculous mycobacterial infection (dNTMI). A retrospective study retrieving data from 2011 through 2020 was conducted. We compared clinical characteristics of SS with and without AOID and generated the prediction model and examined the interaction between AOID and dNTMI in the occurrence of SS. Lymphadenopathy, pustular lesions, and leukocytosis are the significant predictors for AOID-associated SS. Adjusted risk differences were 0.58 (95% confidence interval [CI], 0.33-0.83), 0.21 (95% CI, 0.02-0.39), and 0.24 (95% CI, 0.01-0.47), respectively. Based on the analysis of aggregated cross-sectional data, both the overall and the direct effect of AOID increased the prevalence of SS. The indirect effect of AOID on the occurrence of SS might also be mediated through dNTMI or other common opportunistic infections. In addition, there was a trend of positive additive interaction between AOID and dNTMI. Although the test of additive interaction did not reveal statistically significant results, a deviation from additivity of isolated effects might suggest potential causal interaction between AOID and dNTMI. The distinctive clinical syndrome comprising lymphadenopathy, pustular lesions, and leukocytosis in patients with SS should raise the awareness of clinicians to the potential of underlying AOID.

Sweet syndrome as a cutaneous manifestation in a patient with Erysipelothrix rhusiopathiae bacteremia: A case report.

Erysipelothrix rhusiopathiae is a gram-positive bacillus causing three clinical syndromes in humans, including localized cutaneous infection, diffuse cutaneous form, and systemic infection. Various skin lesions in systemic form have been reported; however, no comprehensive study has been conducted. Here we report a case of a 60-year-old woman who suffered from E. rhusiopathiae bacteremia with distinct generalized annular purplish plaques. Negative microbiological studies of the lesional skin sample combined with the histopathological study showing diffuse neutrophilic infiltration confirm the diagnosis of Sweet syndrome. This study documents Sweet syndrome as one of the cutaneous manifestations in systemic E. rhusiopathiae infection.

Accuracy of Computed Tomography and Magnetic Resonance Imaging for Detection of Pathologic Risk Factors in Patients Diagnosed with Retinoblastoma.

Aim: To assess and compare the diagnostic accuracy of magnetic resonance imaging (MRI) and computed tomography (CT) for detecting the extent of tumor invasion in eyes with advanced retinoblastoma prior to enucleation using histopathologic analysis as a reference.Methods: A total of 56 patients (68 eyes) enucleated for retinoblastoma were reviewed. Eyes with complete data (CT 28, MRI 16) were included for analysis. Imaging data were reviewed by a pediatric radiologist, blinded to histopathology results. Four high-risk factors which included scleral, choroidal, anterior eye segment invasion, and postlaminar optic nerve invasion were assessed.Results: For CT, the diagnostic odds ratio (DOR), sensitivity, and specificity for detecting postlaminar optic nerve invasion were 1.7%, 25%, and 83.3%. Choroidal invasion was correctly identified in only 2 of 10 eyes (DOR 0.5, sensitivity 20%, specificity 66.7%). For scleral invasion, CT showed a diagnostic ratio of 1.5%, sensitivity 40%, specificity 69.6% whereas for anterior segment invasion DOR was 9.2%, sensitivity 100%, and specificity 65.4%. MRI showed a higher DOR for detecting postlaminar optic nerve invasion of 39%, sensitivity 77.8%, and specificity 100%. Choroidal and scleral invasion on MRI had a DOR of 6.5% (sensitivity 25%, specificity 100%) and 6% (sensitivity 33.3%, specificity 92.3%) respectively while DOR for anterior segment invasion was 1.3% (sensitivity 50%, specificity 57.1%).Conclusion: CT showed a poor diagnostic accuracy for all four high-risk factors in advanced retinoblastoma and therefore may not be a useful tool for assessment of tumor extension. For MRI, detection of postlaminar optic nerve invasion was moderately accurate although less accurate for detection of other risk factors. Decision-making for each child should not be based on any single parameter but rather on consideration of clinical factors in combination with radiologic findings.

Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation.

Harboyan syndrome or corneal dystrophy and progressive deafness (MIM #217400) is characterized by congenital hereditary endothelial dystrophy (CHED) and progressive, sensorineural hearing loss. Mutations in SLC4A11 are responsible for this rare genetic syndrome. Eight patients from seven unrelated families affected with Harboyan Syndrome with mean follow-up of 12.0 ± 0.9 years were thoroughly investigated for the ocular, hearing, and kidney function abnormalities and the outcome of penetrating keratoplasty (PK). Mutation analysis of SLC4A11 was performed. All patients presented with bilateral cloudy corneas since birth. Sensorineural hearing loss was detected in all patients. Seven patients (11 eyes) underwent PK with the median age at surgery of 10.1 years (7.1-22.9). The overall corneal graft survival rate after primary PK was 72.7% (8/11 eyes). The mean graft survival time was 94.6 months (95% CI 83.1-126.0). All patients had unremarkable kidney function. The c.2264G>A (p.Arg755Gln) mutation in SCL4A11 was detected in most patients (87.5%). All unrelated Karen tribe patients had p.Arg755Gln mutation, suggestive of founder effect. We found the allele frequency of this variant in the Karen population to be 0.01. The c.2263C>T (p.Arg755Trp) mutation was found in one patient with mild phenotype and the novel truncating protein mutation c.2127delG (p.Gly710fsx*25) in SCL4A11 was identified in two Thai sisters. Visual outcome and graft survival after PK were satisfactory. Our study shows that all studied patients with SLC4A11 mutations had CHED and sensorineural hearing loss, and SLC4A11 mutations were not related to the onset and severity of hearing loss or outcome of keratoplasty.

Degos-like lesions as a cutaneous manifestation of cytomegalovirus infection: A rare and serious complication in a patient with drug-induced hypersensitivity syndrome.

Cytomegalovirus causes a myriad of clinical features, potentially affecting any organ system, significantly increasing morbidity and even mortality. Vascular endothelial cell infection by cytomegalovirus has been implicated in the development of vasculopathy, possibly accounting for the clinical association between cytomegalovirus and vascular thrombosis. In contrast with visceral organ involvement, the cutaneous manifestations of cytomegalovirus are variable and rarely described. Malignant atrophic papulosis, commonly known as Degos disease, is an unusual small vessel arteriopathy with a pathognomonic clinical appearance of atrophic porcelain-white central papules surrounded by telangiectatic erythema. As with the arterial occlusive process, Degos disease may be idiopathic or secondary to autoimmune disorders or viral infection. All in all, cytomegalovirus-related Degos-like presentation has never been described. This report describes a case in which disseminated cytomegalovirus disease developed 4 weeks after the onset of drug-induced hypersensitivity syndrome with prominent Degos-like skin lesions. Our case highlights a rare example of Degos-like lesions occurring due to cytomegalovirus disease and emphasizes the importance of early recognition of the characteristic cutaneous eruption as a diagnostic clue leading to the prompt management of this life-threatening infection.

The prognostic value of excision repair cross-complementing Group 1 expression in nasopharyngeal cancer patients.

BACKGROUND: Overexpression of excision repair cross-complementing Group 1 (ERCC-1) is related to cisplatin resistance and defective repair of radiation damage. The purpose of this study was to evaluate the clinical significance of excision (ERCC-1) expression in nasopharyngeal cancer (NPC). MATERIALS AND METHODS: We conducted a retrospective review of patients diagnosed with NPC between 2000 and 2013. The archived tissues were analyzed using immunohistochemistry to determine ERCC-1 expression. The ERCC-1 expression level along with other clinical factors and overall survival (OS) were analyzed. Hazard ratio (HR) with a 95% confidence interval was calculated to assess the risk. RESULTS: The analysis of ERCC-1 expression was available in 262 NPC patients who had medical records at our hospital. Among those patients, 221 (84%) were treated with curative radiotherapy (RT)/concurrent chemoradiotherapy, 22 (7%) were treated with palliative RT alone, and 19 (9%) were given best supportive care. There was no correlation between ERCC-1 expression and stage of cancer or OS. No difference in 5-year OS was found between patients with low ERCC-1 expression and high ERCC-1 expression (38% vs. 36%; P = 0.981). The adjusted HR (aHR) of cancer death increased with cancer stage (aHR = 2.93 for advanced Stages III-IV; P = 0.001) and age (aHR = 2.11 for age >55; P ≤ 0.001). ERCC-1 expression exhibited no prognostic significance in our study (aHR = 1). CONCLUSION: In this study, ERCC-1 expression has no statistical significance to be considered a prognostic factor for OS among NPC patients. On the other hand, cancer stage, age, and types of treatment can be prognostic factors in NPC patients.

Nail Matrix Pathology in Cronkhite-Canada Syndrome: The First Case Report.

Cronkhite-Canada Syndrome (CCS) presents with gastrointestinal polyposis and the triad of cutaneous abnormalities including nail dystrophy, alopecia, and hyperpigmentation of the skin. The etiology is not well understood. The histology of skin lesion in CCS has not been routinely described. Especially, the nail matrix pathology has not been reported. In this study, the authors report the nail matrix pathology in a patient with CCS. Interestingly, the histologic evaluation revealed matrix hypergranulosis. Because matrix hypergranulosis is commonly found in several inflammatory nail diseases, this discovery points out that an inflammatory process is probably one of the important pathogeneses in CCS.

Melanization of Fusarium keratoplasticum (F. solani Species Complex) During Disseminated Fusariosis in a Patient with Acute Leukemia.

Fusarium spp. are recognized as the second most frequently filamentous fungi causing opportunistic infections and particularly important due to the increasing number of immunocompromised patients. F. keratoplasticum (a member of F. solani species complex) is one of the Fusarium species commonly associated with human infection, and therefore, studies on the virulence of this fungus are needed. This study aimed to confirm the presence of melanin in F. keratoplasticum from a patient with systemic fusariosis. Immunofluorescence labeling with anti-melanin monoclonal antibody (MAb) was used to examine an expression of melanin in F. keratoplasticum in vitro and during infection. Electron spin resonance identified the particles extracted from F. keratoplasticum as stable free radical consistent with melanin. Lesional skin from the sites with fusariosis contained hyphal structures that could be labeled by melanin-binding MAb, while digestion of the tissue yielded dark particles that were reactive. These findings suggest that F. keratoplasticum hyphae and chlamydospores can produce melanin in vitro and that hyphae can synthesize pigment in vivo. Given the potential role of melanin in virulence of other fungi, this pigment in F. keratoplasticum may play a role in the pathogenesis of fusariosis.

Central papillary cystadenocarcinoma of the mandible: A case report and review of the literature.

INTRODUCTION: Central papillary cystadenocarcinoma of the jaw is an extremely rare tumor with only three previously reported cases in the English literature. This tumor is a histologically low-grade cancer, affecting more commonly in the mandible than in the maxilla. PRESENTATION OF CASE: A 65-year-old woman presented with a two months history of a rapidly growing, painless mass of the right ascending ramus of the mandible. The pathologic report from incisional biopsy was a papillary cystic tumor with a differential diagnosis of cystadenoma versus cystadenocarcinoma. Segmental mandibulectomy, parotidectomy and submandibular gland resection were performed. The final pathology was intraosseous papillary cystadenocarcinoma. DISCUSSION: Clinical features of central papillary cystadenocarcinoma of the mandible mimic an odontogenic lesion and metastatic bone disease, careful review of radiograph and pathology should be done. Surgical excision with wide margins is the appropriate treatment. Postoperative radiation therapy should be considered in histologically aggressive or high-stage tumor. CONCLUSION: This is the fourth case of central papillary cystadenocarcinoma of the mandible in the English literature. Although it is usually a low-grade cancer, en bloc resection with adjuvant postoperative radiotherapy in a high-stage disease, and long-term follow-up allow the patient to have a favorable prognosis.

Histopathological diagnosis of eyelid tumors in Chiang Mai University Hospital.

OBJECTIVE: To report the histopathological diagnosis ofeyelid tumors and to study the prevalence of eyelid tumors in Chiang Mai University Hospital Chiang Mai, Thailand. MATERIAL AND METHOD: A retrospective review of medical and pathological records ofpatients diagnosed as eyelid tumor that underwent histopathological biopsy between January 2007 and December 2013 in Chiang Mai University Hospital was done. RESULTS: Three hundred sixteen cases of eyelid tumors were reviewed. The mean age at diagnosis was 54.2 +/- 19.6 years (range 1 month-99 years), women were 59.5% (n = 188) and men 40.5% (n = 128). The tumor sites were left lower eyelid (27.5%), right upper eyelid (24.4%), right lower eyelid (21.2%), and left upper eyelid (18.7%). There were 204 (64.6%) benign tumors and 112 (35.4%) malignant tumors. Nevi were the most common in benign group (16.4%) and basal cell carcinoma was the most common eyelid malignancy (18.0%). CONCLUSION: The most common histopathological diagnosis for benign eyelid tumor was nevus, while the most common malignant eyelid tumor was basal cell carcinoma at Chiang Mai University Hospital.

Ecthyma gangrenosum-like lesions associated with disseminated nontuberculous mycobacterial infection in an HIV-infected patient.

Ecthyma gangrenosum typically occurs in patients who are immunocompromised. It is most often associated with a Pseudomonas aeruginosa bacteremia but other pathogens can be found. We report an HIV-infected patient with disseminated nontuberculous mycobacterial infection who presented with fever, mucous bloody diarrhea and cutaneous lesions on both legs. The cutaneous lesions had ecthyma gangrenosum feature and the histopathology was compatible with erythema induratum. Hemoculture was positive for nonchromogen slowly growing mycobacteria.

Postmortem diagnosis of sudden unexpected death from Streptococcus suis type 2 infection: a case report.

Streptococcus suis causes meningitis, septicemia, arthritis, endocarditis and death in both pigs and humans. Sudden death is rarely documented in the forensic field and almost all cases were diagnosed pre-mortem. Here we report a 49-year-old man who died from S. suis type 2 infection. S. suis was identified as the causative pathogen using bacterial culture, standard biochemical and coagglutination tests, specific DNA amplification by polymerase chain reaction, and histopathologic examination. We discuss the postmortem investigation of a suspected S. suis infection.

Impact of Clinical and Histo-Pathological Prognostic Factors on T1-2N0-1 Oral Tongue Carcinoma.

To determine predictive factors which affect local and regional recurrence of T1-2N0-1M0 oral tongue carcinoma (OTC). Records of 42 patients with T1-2N0-1 M0 OTC were reviewed. The clinical characteristics, histo-pathological data, disease recurrence and survival rate were analyzed. Descriptive statistics and Kaplan-Meier survival analysis were used. The median follow up was 38 months. The 2-year overall survival and disease-free survival rates were 85.7 and 55.6 % respectively. At the 2 year analysis, there were surgical margin <5 mm (p value = 0.01), tumor thickness >7 mm (p value = 0.03), perivascular and perilymphatic invasion (p value = 0.01) affected on local recurrence and perivascular and perilymphatic invasion were also predictors for regional recurrence (p value = 0.04). The surgical margin status, tumor thickness, perivascular and perilymphatic invasion represented significant predictive factors for local recurrent OTC. Postoperative adjuvant therapy should be considered in these groups.

Reactive neutrophilic dermatoses associated with nontuberculous mycobacterial infection in adult-onset immunodeficiency syndrome responded well to acitretin: four cases report.

BACKGROUND: Recent articles have suggested an adult-onset immunodeficiency syndrome that was described in HIV-uninfected adults with disseminated non-tuberculous mycobacterial infection and/or another opportunistic infection with concomitant reactive dermatoses. Few studies reported the drugs used to treat these reactive neutrophilic dermatoses including systemic steroid, etretinate, clofazimine, colchicine, and dapsone. This study aims to report the efficacy of acitretin for the treatment of this condition. MATERIAL AND METHOD: Four HIV-uninfected patients with disseminated non-tuberculous mycobacterial infection and the reactive dermatoses from department of internal medicine, Maharaj Nakorn Chiang Mai Hospital between 2008 through 2011 were observed in the clinical presentation and course of disease including treatment and response. RESULTS: All patients had at least one episode of reactive dermatoses with variable presentations comprising Sweet's syndrome with pustules, pustular vasculitis-like lesions, or generalized pustular lesions. Acitretin was prescribed to treat these reactive neutrophilic dermatoses. It showed a good response without side effects. CONCLUSION: Acitretin, a second-generation retinoid, can be used for the treatment of reactive pustular lesions in the syndrome of adult-onset immunodeficiency due to its good response, being well tolerated, and without immunosuppression.

Cutaneous miliary tuberculosis in a renal transplant patient: a case report and literature review.

The incidence of tuberculosis in renal transplant recipients is higher than in the general population. However, the incidence of cutaneous miliary tuberculosis in these patients is very rare. We report a 56-year-old renal transplant Thai man admitted to the hospital with prolong fever, dry cough and multiple small erythematous papules on his extremities. A chest X-ray revealed diffuse miliary infiltration. Mycobacterium tuberculosis DNA was demonstrated in bronchoalveolar lavage fluid by polymerase chain reaction. Histopathology of a skin biopsy showed poorly formed noncaseating granulomatous inflammation in the lower dermis and was positive for many acid-fast bacilli. Miliary tuberculosis of the lung and skin were diagnosed. The respiratory symptom and the skin lesions improved after treatment with anti-tuberculous drugs.

Sudden and unexpected death in a young Thai female due to poorly controlled Graves' disease: a case report.

A 20-year-old well nourished woman was found dead suddenly and unexpectedly in her bedroom. According to her medical history, Graves' disease was diagnosed in August 2000 and the symptoms of thyrotoxicosis were poorly controlled. Autopsy and histology revealed diffuse enlargement of the thyroid gland (125 g, diffuse hyperplastic goiter), pulmonary edema, cardiomegaly (440 g) without coronary artery occlusion or stenosis. The cardiac muscles showed interstitial fibrosis with hypertrophy of the myocardial fibers. The circumstances and scene of death as well as the detailed postmortem analysis indicated that thyroid crisis from Graves' disease was the cause of death.