Ultrastructural aspects of the skin in lipoid proteinosis (Urbach-Wiethe disease)

Abstract Lipoid proteinosis is a rare autosomal recessive disease, characterized by hyaline deposits of PAS-positive material in tissues due to mutations in the ECM1 gene. This study evaluated the ultrastructure of the skin of a 6-year-old child affected by this condition. The light microscopy identified PAS-positive hyaline deposits, which were more intense in the papillary dermis. Scanning electron microscopy of the dermis showed a compact papillary dermis and fibrillar deposits in the middle dermis. Transmission electron microscopy clearly showed the deposition of fibrillar material in the dermis, forming clusters adherent to elastic fibers, between the collagen bundles and the collagen fibers, and also filling up the cytoplasm of dermal fibroblasts.

X-radiation does not affect the dental pulp: a morphological study in rats / A radiação X não afeta a polpa dentária: um estudo morfológico em ratos

Introduction: Radiotherapy is one of the methods used as a treatment for malignant tumors in the head and neck region and it can cause tissue damage in the irradiated areas. In head and neck radiotherapy, teeth are often included within the irradiation area and, consequently, the dental pulp; which receives high doses of radiation. Objective: To evaluate the effects of ionizing radiation on the pulp tissue of rat teeth. Methodology: A double-blind experimental assay with 35 Albinus Wistar rats divided into seven groups was performed; one control group, three groups irradiated with 15 Gy, and three groups irradiated with 25 Gy. The irradiated groups were submit-ted to a single dose of radiation and sacrificed 24 hours, 7 days, and 22 days after irradiation, respectively. The samples were evaluated for the morphological presence of inflammatory infiltrate, edema, necrosis, fibrosis, and degeneration of blood vessels. Statistical analysis was performed using the Kruskal-Wallis and Dunn tests with p < 0.05. Results: Hyaline degeneration of the pulp blood vessels in the irradiated teeth was statistically signifi-cant in all irradiated groups. Inflammatory infiltrate, edema, necrosis or fibrosis was not observed. Conclusion:A single X-radiation dose is not able to affect the dental pulp connective tissue in the long term with no clinical damage.

Introdução: A radioterapia é um dos métodos utilizados como tratamento para tumores malignos em região de cabeça e pescoço e que pode causar danos aos tecidos nas áreas irradiadas. Na radioterapia de cabeça e pescoço, os dentes são comumente incluídos dentro da área de radiação e, consequentemente, a polpa dentária, recebe altas doses de radiação. Objetivo: Avaliar os efeitos da radiação ionizante no tecido pulpar de dentes de ratos. Metodologia: Foi realizado um ensaio experimental duplo-cego com 35 ratos Albinus Wistar divididos em sete grupos: um grupo controle, três grupos irradiados com 15 Gy e três grupos irradiados com 25 Gy. Os grupos irradiados foram submetidos a uma dose única de radiação e sacrificados 24 horas, 7 dias e 22 dias após a irradiação, respectivamente. As amostras foram avaliadas quanto à presença morfológica de infiltrado inflamatório, edema, necrose, fibrose e degeneração nos vasos sanguíneos. A análise estatística foi realizada por meio dos testes de Kruskal-Wallis e Dunn com p < 0.05. Resultados: Degeneração hialina nos vasos sanguíneos pulpares dos dentes irradiados foi estatisticamente significante em todos os grupos irradiados. Não foi observado infiltrado inflamatório, edema, necrose ou fibrose. Conclusão: Uma dose única de radiação X não é capaz de afetar o tecido conjuntivo da polpa dentária a longo prazo sem danos clínicos.

Follicular dendritic cell sarcoma aggravated by hyaline-vascular Castleman's disease in association with paraneoplastic pemphigus: study of the tumor and successful treatment

Abstract The authors have successfully treated and monitored a case of paraneoplastic pemphigus in association with follicular dendritic cell sarcoma aggravated by hyaline-vascular Castleman's disease. The patient was a 56-year-old female who presented with recalcitrant erosive lichen planus of the oral cavity, tongue, and genital mucosa, along with polymorphous eruptions throughout her body. Histological examination of the cutaneous lesions, indirect immunofluorescence on rat bladder epithelium, and western blot of human keratinocyte proteins identified anti-epidermal antibodies in the patient's serum. Positron emission tomography and computed tomography scans found a mass in her retroperitoneal region. Pathology and immunohistochemistry investigation further corroborated the diagnosis of follicular dendritic cell sarcoma originated from hyaline-vascular Castleman's disease. Complete remission was achieved and the patient has been monitored for four years.

Is it always blepharitis? Urbach-Wiethe syndrome (lipoid proteinosis) / É sempre blefarite? Síndrome de Urbach-Wiethe (proteinose lipóide)

ABSTRACT A 12-year-old girl presented with recurrent crusty debris and dandruff at the base of both eyelashes despite having completed different medical treatments. She had had a hoarse voice since her early childhood. Upon anterior segment examination of the eyes, we found yellow-white, bead-like papules on the margins of the eyelids. An otolaryngologist detected multiple nodules on the vocal cords and buccal mucosa. Ultrasonography revealed salivary stones in the main parotid ducts. And a dermatological examination revealed thickened skin lesions on the elbows and knees with a biopsy showing histopathological findings of lipoid proteinosis. We diagnosed the patients as having Urbach-Wiethe syndrome or lipoid proteinosis, a rare autosomal recessive multisystem disorder with variable manifestations vary that difficult the diagnosis. The ocular manifestations are not well known among ophthalmologists, but the typical lid lesions are pathognomonic and ophthalmologists should be aware of this presentation to identify patients with Urbach-Wiethe syndrome.

RESUMO Uma menina de 12 anos apresentava restos crostosos e caspa recorrente na base de ambos os cílios, apesar de ter completado diferentes tratamentos médicos. Ela tinha uma voz rouca desde a infância. No exame do segmento anterior dos olhos, encontramos pápulas amarelo-esbranquiçadas nas margens das pálpebras. Um otorrinolaringologista detectou múltiplos nódulos nas cordas vocais e na mucosa bucal. A ultrassonografia revelou cálculos salivares nos principais ductos parotídeos. Um exame dermatológico revelou lesões cutâneas espessas nos cotovelos e joelhos com uma biópsia mostrando os achados histopatológicos de proteinose lipoide. Diagnosticamos os pacientes da síndrome de Urbach-Wiethe ou proteinose lipoide, um distúrbio multissistêmico autossômico recessivo raro, com manifestações variáveis, que dificultam o diagnóstico. Manifestações oculares não são bem conhecidas entre oftalmologistas, mas as lesões típicas da pálpebra são patognomônicas e os oftalmologistas devem estar atentos a essa apresentação para identificar pacientes com síndrome de Urbach-Wiethe.

Does Radiofrequency Ablation Induce Neoplastic Changes in Benign Thyroid Nodules: A Preliminary Study

BACKGROUND: To evaluate the clinical feasibility of radiofrequency ablation (RFA) of benign thyroid nodules along with cytomorphological alteration, and any malignant transformation through biopsy. METHODS: The data were retrospectively collected between April 2008 and June 2013 and core needle biopsy (CNB) was performed on 16 benign thyroid nodules previously treated using RFA. The parameters of the patients were compared, between the time of enrollment and the last follow-up examination, using linear mixed model statistical analysis. RESULTS: No atypical cells or neoplastic transformation were detected in the undertreated peripheral portion of treated benign nodules on the CNB specimen. RFA altered neither the thyroid capsule nor the thyroid tissue adjacent to the treated area. On histopathological examinations, we observed 81.2% acellular hyalinization, which was the most common finding. After a mean follow-up period of over 5 years, the mean volume of thyroid nodule had decreased to 6.4±4.2 mL, with a reduction rate of 81.3%±5.8% (P<0.0001). CONCLUSION: RFA is a technically feasible treatment method for benign thyroid nodules, with no carcinogenic effect or tissue damage of the normal thyroid tissue adjacent to the RFA-treated zone.

A Case of Hyaline Fibromatosis Syndrome with a New Variant of Genetic Mutation in ANTXR2 Gene

No abstract available.

Repair of Osteochondral Defects in Rabbit Knee Using Menstrual Blood Stem Cells Encapsulated in Fibrin Glue: A Good Stem Cell Candidate for the Treatment of Osteochondral Defects

BACKGROUND: In recent years, researchers discovered that menstrual blood-derived stem cells (MenSCs) have the potential to differentiate into a wide range of tissues including the chondrogenic lineage. In this study, we aimed to investigate the effect of MenSCs encapsulated in fibrin glue (FG) on healing of osteochondral defect in rabbit model. METHODS: We examined the effectiveness of MenSCs encapsulated in FG in comparison with FG alone in the repair of osteochondral defect (OCD) lesions of rabbit knees after 12 and 24 weeks. RESULTS: Macroscopical evaluation revealed that the effectiveness of MenSCs incorporation with FG is much higher than FG alone in repair of OCD defects. Indeed, histopathological evaluation of FG + MenSCs group at 12 weeks post-transplantation demonstrated that defects were filled with hyaline cartilage-like tissue with proper integration, high content of glycosaminoglycan and the existence of collagen fibers especially collagen type II, as well as by passing time (24 weeks post-transplantation), the most regenerated tissue in FG + MenSCs group was similar to hyaline cartilage with relatively good infill and integration. As the same with the result of 12 weeks post-implantation, the total point of microscopical examination in FG + MenSCs group was higher than other experimental groups, however, no significant difference was detected between groups at 24 weeks (p>0.05). CONCLUSION: In summary, MenSCs as unique stem cell population, is suitable for in vivo repair of OCD defects and promising for the future clinical application.

History of Pulmonary Surfactant Replacement Therapy for Neonatal Respiratory Distress Syndrome in Korea

Neonatal respiratory distress syndrome (RDS) is a disease that is unique to newborn infants. It is caused by a deficiency of pulmonary surfactant (PS), which is usually ready to be activated around the perinatal period. Until RDS was more clearly understood, it was not known why premature infants died from respiratory failure, although pathology revealed hyaline membranes in the alveoli. Surprisingly, the era of PS replacement therapy began only relatively recently. The first clinical trial investigating neonatal RDS was conducted in 1980. Since then, newborn survival has improved dramatically, which has led to significant advances in the field of neonatology. The present comprehensive review addresses PS, from its discovery to the application of artificial PS in newborns with RDS. It also reviews the history of PS in Korea, including its introduction, various commercial products, present and past research, newborn registries, and health insurance issues. Finally, it describes the inception of the Korean Society of Neonatology and future directions of research and treatment.

Understanding Neoplasm of Uncertain or Unknown Behavior of the Thyroid in Korean Clinical Practice

Thyroid tumors include a heterogeneous group of entities with variable clinical behavior and histology, mostly classified as benign or malignant. Neoplasm of uncertain or unknown behavior in thyroid gland was newly adopted by the 2017 edition of World Health Organization (WHO) classification of endocrine organs. The borderline thyroid tumors include a hyalinizing trabecular tumor and three encapsulated follicular-patterned thyroid tumors (follicular tumor of uncertain malignant potential, well-differentiated tumor of uncertain malignant potential, and non-invasive follicular thyroid neoplasm with papillary-like nuclear features). This review summarizes the changes in the 2017 WHO classification of thyroid tumors, highlights their implications for clinical practice in Korea, and briefly discusses National Health Insurance system, cancer insurance policies, and their associated benefits in Korea.

Borderline Thyroid Tumors: a Surgeon's Perspectives

Borderline thyroid tumors are composed of hyalinizing trabecular tumor (HTT), well differentiated tumor of uncertain malignant potential (WDT-UMP), follicular tumor of uncertain malignant potential (FT-UMP) and non-invasive follicular tumor with papillary like nuclear feature (NIFTP) by World Health Organization (WHO) definition. They have different pathological feature from each other. However, it is difficult to diagnose with diagnostic imaging, fine needle aspiration (FNA) or core biopsy preoperatively. Thus, the diagnosis is usually made after diagnostic lobectomy. Main surgical concerns about borderline tumor are not performing total thyroidectomy because of relatively indolent nature of these tumors. Unfortunately, some of these tumors can be diagnosed as malignant tumor preoperatively. The other surgical concern is performing completion thyroidectomy or not after diagnostic lobectomy. Decision making is difficult even though it is generally considered that lobectomy alone is enough. In this article, we will discuss clinical features of borderline malignant tumors and surgical strategy for these tumors.

A Case of Cervical Chondrocutaneous Branchial Remnant Comprised of Hyaline Cartilage

No abstract available.

Esophageal aperistalsis in a patient with lipoid proteinosis

Lipoid proteinosis is a rare disorder with autosomal recessive inheritance, characterized by progressive deposition of hyaline material in the skin, mucous membrane, and different organs of the body, resulting in a multitude of clinical manifestations. A 34-year-old woman presented with hoarseness, dysphagia, eyelid beeding, and acneiform scars on the facial skin and extremities. The patient was diagnosed clinically as having lipoid proteinosis, which was confirmed by laryngeal biopsy. The objective of the present report is to describe this rare entity. This case report also illustrates that lipoid proteinosis may show protean clinical features and yet may remain undiagnosed for many years

Hyalinizing Trabecular Tumor of the Thyroid Gland, a Diagnostic Challenge in Fine-Needle Aspiration Cytology: Case Report

Hyalinizing trabecular tumor (HTT) is a rare thyroid tumor with low to minimal malignant potential. HTT is often misinterpreted as other thyroid tumors, including papillary thyroid carcinoma (PTC) and medullary thyroid carcinoma (MTC), on fine-needle aspiration (FNA) cytology, because of its overlapping cytologic features, such as nuclear grooves and intranulcear pseudoinclusions. Although cytopathologists cannot definitely conclude HTT by FNA cytology, suspicion of HTT is necessary to avoid misdiagnosing HTT as PTC or MTC and to avoid unnecessary aggressive treatment. Here, we report a case of HTT with novel cytologic features in CellPrep liquid based cytology that was diagnosed as suspicious for papillary carcinoma by FNA and finally diagnosed as HTT in the surgical specimen.

Hyalinizing Cholecystitis and Associated Carcinoma: A Case Report

No abstract available.

Microcystic Stromal Tumor of Testicle: First Case Report and Literature Review / Journal of the Korean Cancer Association, 대한암학회지

Microcystic stromal tumor (MCST) is a rare subtype of sex cord-stromal neoplasm. Tumors from all 31 previously reported cases were located in the ovary. Herein, we present a unique case of a right-side testicular tumor in a 33-year-old Chinese male. The tumor is composed of predominantly lobulated cellular nodules separated by hyalinized fibrous stroma and they expressed CD10, β-catenin (nuclear), and cyclin D1. Molecular analysis identified a point mutation (c.110C>G) in exon 3 of CTNNB1. The histopathological features, immunohistochemistry profiles, and molecular analysis of this tumor were consistent with MCST of the ovary. Therefore, a diagnosis of MCST of the right testicle was determined. To the best of our knowledge, this is the first case of MCST occurring in the testicles. The study may provide new insights to the tumor biology of MCST and a better understanding of this rare entity.

Root morphology can be a risk factor for periodontal damage and root resorption in orthodontic movement

Aim: The study evaluated, using histomorphometry, the percentage of hyaline area in periodontal ligament (PDL) and root resorption in orthodontic tooth movement (OTM). Methods: Ten rats were divided into two groups. G3 Group (n=5), with 3 days of OTM and G7 Group (n=5), with 7 days of OTM. A Control Group (n=5) consisted of contralateral teeth of each animal, which were not moved. Maxillary left first molar was moved, using stainless steel spring connected to the incisors with 40g force. Microscopic analysis was done in transversal sections of the mesiovestibular (MV) and distovestibular (DV) roots in the cervical level. Results: There was a PDL hyaline area in the DV root of 6.2% in G3 and 1.8% in G7. The root resorption area in G7 was 0.9%. On MV root and Control Group were not found occurrences of hyaline areas in PDL and no root resorption. Conclusions: Based on the results obtained, it might be concluded that smaller roots showed higher frequency of hyaline areas and root resorption (AU)

Increased Circulating T Lymphocytes Expressing HLA-DR in Kidney Transplant Recipients with Microcirculation Inflammation

We consecutively enrolled 82 kidney transplant recipients (KTRs) with stable renal function and 24 KTRs who underwent indication biopsy to compare the histological grading of renal allografts with the activity of circulating T lymphocyte subsets and monocytes determined by flow cytometry, which were obtained at 2 weeks after kidney transplantation (KT) and at the time of indication biopsy, respectively. The sum of the scores of glomerulitis (g) + peritubular capillaritis (ptc), inflammation (i) + tubulitis (t), interstitial fibrosis (ci) + tubular atrophy (ct), and fibrointimal thickening (cv) + arteriolar hyaline thickening (ah) was used to assign a histological grade to the renal allograft samples. The frequencies of CD4⁺HLA-DR⁺/CD4⁺ T cells and CD8⁺HLA-DR⁺/CD8⁺ T cells were significantly increased in KTRs with a microcirculation inflammation (MI) sum score ≥ 1 when compared with KTRs with an MI sum score = 0 as well as stable KTRs. In these 2 subsets, only CD4⁺HLA-DR⁺/CD4⁺ T cells were positively correlated with MI sum scores. Analysis using the receiver operating characteristic (ROC) curve showed that antibody-mediated rejection (AMR) could be predicted with a sensitivity of 80.0% and a specificity of 94.7%, using a cutoff value of 29.6% frequency of CD4⁺HLA-DR⁺/CD4⁺ T cells. MI was significantly associated with an increased frequency of activated T lymphocytes expressing human leukocyte antigen-antigen D related (HLA-DR). Further studies should focus on validating the utility of circulating CD4⁺HLA-DR⁺/CD4⁺ T cells as a noninvasive, immunologic monitoring tool for the prediction of AMR.

A Case of Hyalinizing Trabecular Adenoma of the Thyroid Gland

Hyalinizing trabecular adenoma of the thyroid gland is a rare benign neoplasm. It is characterized by an encapsulated nodule, trabecular arrangement of polygonal, oval, elongated cells, and hyalinized stroma. It is easily confused with medullary thyroid carcinoma or papillary thyroid carcinoma. Distinguishment with pathologic finding and immunohistochemical studies are needed to make a definite diagnosis. We recently experienced a case of hyalinizing trabecular adenoma of the thyroid gland. A 73-year-old woman present with an incidentally detected left thyroid mass. Fine needle aspiration was performed and papillary thyroid carcinoma was suspected. However, the surgical specimen revealed a hyalinizing trabecular adenoma. We present this case with a review of the literature.