Hyaline Material Research Articles

Use of Pentoxifylline in Lipoidoproteinosis or Urbach’s Disease: Case Report

Lipoidoproteinosis or Urbach’s disease, is a genodermatosis with an autosomal recessive transmission pattern, without sex predilection. Characterized by varying degrees of intercellular deposits of hyaline material in the skin, mucous membranes and internal organs, leading to infiltration and thickening of affected organs. The course is slow and benign. Two cases are reported: a 6-year-old schoolgirl who consulted for dry skin and hoarseness since she was 2 years old; and a 13-year-old adolescent with similar symptoms. The clinical and histopathological diagnosis is made. Treatment with oral pentoxifylline was started, and a significant improvement of the lesions was observed after six months.

Neurobiological Effects of Lipoid Proteinosis: A Study on Phosphorylated Tau, S100B, NSE, NEFL, and GFAP

Background: Lipoid Proteinosis (LP), also termed Urbach-Wiethe disease, is an enigmatic genodermato-sis marked by the systemic deposition of hyaline material. With its etiology rooted in ECM1 mutations, LP’s neuropathological spectrum has been hypothesized to involve an array of neurodegenerative biomarkers, underscoring a potential for substantial neurobiological implications. This study endeav-ored to elucidate the serum concentrations of neurodegenerative biomarkers—phosphorylated Tau (pMAPT), S100B, Neuron-Specific Enolase (NSE), Neurofilament Light Chain (NEFL), and Glial Fibrillary Acidic Protein (GFAP)—in LP patients, seeking to establish their diagnostic utility for the condition. Materials and Methods: Fifteen LP patients and 15 matched healthy controls were enrolled. Serum levels of the biomarkers were quantified using ELISA, and their predictive power was assessed through binary logistic regression and Receiver Operating Characteristic (ROC) analysis. Results: Elevated serum levels of NSE, NEFL, and GFAP were observed in LP subjects relative to healthy counterparts, reaching statistical significance (p<0.05). In contrast, pMAPT and S100B levels did not differ appreciably. GFAP is considered a predictive marker for LP with an area under the curve (AUC) value of 0.813 and a 95% confidence interval (CI) of 0.658-0.968 (p=0.003). Conclusions: The study underscores a distinctive neurodegenerative profile in LP, with NSE, NEFL, and GFAP concentrations significantly amplified. These biomarkers, particularly GFAP, may represent novel indicators for LP, offering prospective biomarker-based diagnostic strategies. The insights garnered herein pave the way for advanced understanding and clinical management of LP, delineating a novel avenue for future high-impact research.

Effects of 'dedo de moça' pepper extract administration on wistar rat pregnancy and fetal development

Introduction: The dedo de moça pepper is spicy due to capsaicin, which activates receptors in sensory neurons, generating a burning sensation. Studies suggest that capsaicin-sensitive neurons, by releasing neuropeptides, may affect uterine contraction. Objective: To evaluate the effect of chronic administration of capsaicin extract (Cps) during pregnancy in Wistar rats and their fetuses. Methodology: Pregnant female Wistar rats were divided into 4 groups (n = 5/group): Group I – Negative Control; Group II – Positive Control; Group III – Cps 1 – 0.25 mL; Group IV – Cps 2 – 0.5 mL. Exposure was initiated after embryo implantation (3rd day of pregnancy) until full term (20th day of pregnancy), with gavage performed three times per week. Results: On the 20th day, pregnant rats were euthanized, and outcomes evaluated included weight gain, placental morphology, reproductive capacity, and embryonic/fetal development. Ingestion of capsaicin extract resulted in negative impacts on fetal intrauterine growth parameters and placental alterations, with deposition of atypical hyaline material for gestational age and changes in vascular structures. Conclusion: The results indicate that capsaicin extract interfered with placental exchange, leading to intrauterine growth restriction of the fetuses.

Lumps and bumps in a young child: Hyaline fibromatosis syndrome

Hyaline fibromatosis syndrome (HFS) is a rare deposition disorder, wherein the skin and internal organs have unusual amounts of amorphous hyaline material. HFS can present as a milder form called Juvenile Hyaline Fibromatosis or severe Infantile Systemic Hyalinosis (ISH). Skin changes common to both the entities are skin thickening, perianal nodules, facial papules, gingival hyperplasia, hyperpigmented plaques over flexural joints and massive subcutaneous scalp tumours. Conspicuous involvement of the joints in the form of joint contractures affects patient morbidity. Furthermore, ISH involves the gastrointestinal tract characterised by protein-losing enteropathy and malabsorption. This contributes to the high mortality seen in ISH. We describe a 2-year-old male patient with grade 2 HFS who succumbed to a lower respiratory tract infection, a manifestation not typically observed in moderate HFS cases.

Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome.

Hyaline fibromatosis syndrome is a rare autosomal recessive disorder caused by ANTXR2 pathogenic variants. The disorder is characterized by the deposition of amorphous hyaline material in connective tissues. The hallmarks of the disease are joint contractures, generalized skin stiffness, hyperpigmented papules over extensor surfaces of joints, fleshy perianal masses, severe diarrhea, and gingival hypertrophy. The severity of the disease varies and prognosis is poor. No specific treatment is yet available. Most patients with the severe form of the condition pass away before the second year of age. In this study, we describe the clinical and molecular findings of a cohort of seven hyaline fibromatosis syndrome patients who were diagnosed and followed up at a single tertiary reference center in Turkey. Genomic DNA was extracted by standard salting out method from peripheric blood samples of three patients. In one patient DNA extraction was performed on pathology slides since peripheric blood DNA was not available. All coding exons of the ANTXR2 were amplified and sequenced on ABI Prism 3500 Genetic Analyser. Sanger sequencing was performed in 3 patients and homozygous c.945T>G p.(Cys315Trp), c.1073dup p.(Ala359CysfsTer13), and c.1074del p.(Ala359HisfsTer50) variants were identified in ANTXR2. All patients passed away before the age of five years. HFS is a rare, progressive disorder with a broad phenotypic spectrum. HFS can be recognized easily with distinctive clinical features. Nevertheless, it has poor prognosis with increased mortality due to severe clinical decompensation.

A Rare Case Report of Lipoid Proteinosis with Distichiasis and Trichomegaly: An Interesting Entity

Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by infiltration of periodic acid schiff (PAS)-positive diastase-resistant hyaline material in the skin, oral cavity, and larynx caused by a mutation in the extracellular matrix 1 gene. Clinically characterized by beaded eyelid papules, waxy papules, nodules, plaques, and acneiform pock-like scars over the face and body. We report a case of LP, with involvement of the skin, eyes, brain, oral mucosa, and larynx, histopathologically confirmed by PAS-positive and diastase-resistant deposition in the dermis. The patient showed good response in skin lesions and quality of speech with 6-month of therapy of acitretin 0.5 mg/kg/day and followed up for 1 year without recurrences. As there is no curative and specific therapy for LP, acitretin is a very useful drug in improving quality of life, speech, and cosmetic appearance.

Metastatic Hidradenocarcinoma of Inguinal Region: A Cytological Diagnosis

Abstract Hidradenocarcinoma is an unusual malignant tumor of the sweat gland with a high local recurrence and lymph node metastasis. They are primarily located in the head and neck, and trunk. Here, we present a case of hidradenocarcinoma recurrence with metastasis to the right inguinal region, which is a rare occurrence. In cytology, dual population of cells, consisting of eosinophilic and clear cells, can be observed, which are arranged in clusters, tubules, and papillae showing pleomorphism, along with extracellular hyaline material and necrosis. Although excision biopsy is needed for diagnosis, fine needle aspiration can be a simple and minimally invasive method in preoperative diagnosis.

Pathological and molecular study of kidneys in apparently healthy cattle and sheep with special reference to Leptospira species in central and northern Jordan.

Renal pathological conditions can cause significant economic losses for livestock owners. This study investigated and described the gross pathology and histopathology of lesions found in the kidneys of sheep and cattle, with particular attention to the presence of Leptospira spp. Three hundred and sixty kidneys from apparently healthy sheep and cattle (208 and 152, respectively) were collected from slaughterhouses in Jordan for gross and histopathological examinations, multiplex polymerase chain reaction (PCR) analysis, and gene sequencing of Leptospira spp. Histopathological analysis of the samples revealed the following conditions: interstitial nephritis (4.44%), glomerulonephritis (4.16%), acute tubular necrosis (17.22%), and renal congestion (4.72%). In addition, in 26.9% of the samples, hyaline material was observed in the interstitium of the cortex and medulla. The PCR results revealed that 83 (23.1%) of the 360 samples were positive for Leptospira spp. 16S rRNA, 42/152 (28%) of cattle, and 41/208 (20%) of sheep. Four samples (two sheep and two cattle) were sequenced and deposited in GenBank with accession numbers from OL701310 to OL701313. Basic Local Alignment Search Tool search and nucleotide similarities between OL701311 and OL701313 resulted in the highest similarities with different Leptospira borgpetersenii strains, whereas OL701310 showed the highest nucleotide similarity (99.2%) with the Leptospira interrogans strain. Similarly, phylogenetic analysis revealed that OL701311 to OL701313 clustered together with different serovars of L. borgpetersenii, whereas OL701310 clustered with the L. interrogans clade. This is the first study to reveal a close association between pathogenic Leptospira spp. and kidney disorders in Jordanian cattle and sheep. These findings may help expand the current understanding of the causes and mechanisms of renal disease in cattle and sheep and contribute to developing more effective prevention and treatment programs.

Urbach-Wiethe disease: a rare pediatric case report

Urbach-Wiethe disease also known as lipoid proteinosis (LP) is a rare autosomal recessive Geno dermatosis.1 It is characterized by the deposition of an amorphous hyaline material in the skin, mucosa and viscera and is also known as cutaneous-mucosal hyalinosis.2,3 Parental consanguinities is identified in approximately 20% of Urbach-Wiethe disease cases. The classic manifestation due to laryngeal infiltration is a hoarse cry with its onset in infancy. Skin and mucous membrane changes become clinically apparent important consequences.4 Rarely, the central nervous system and respiratory tract may be involved resulting in seizures and airway obstruction, respectively. The lifespan is generally normal. We report a case of Urbach-Wiethe disease in a 6-year-old boy with hoarseness of voice who was started on oral acitretin therapy following his diagnosis. Oral acitretin can prove useful in cases of lipoid proteinosis who present with hoarseness of voice or vocal cord palsy. The mutations in the gene encoding extracellular matrix protein 1 (ECM1) have been linked to lipoid proteinosis. Even though no effective treatment is known, acitretin has proved to reverse hoarseness of voice in few reported cases and was started in our case as it was his chief presenting complaint.

Diagnostic clues for hyalinizing trabecular tumor on fine needle aspiration cytology.

The hyalinizing trabecular tumor (HTT) is a rare benign neoplasm of the thyroid gland. This neoplasm has overlapping cytological features with Papillary Thyroid Carcinoma, Medullary Carcinoma and Follicular Neoplasm with Nuclear Features of Papillary Carcinoma. This can lead to misdiagnosis of malignancy in fine needle aspiration (FNA) cytology specimens with unnecessary total thyroidectomy. The aim of this study is to determine if there are some cytological features that could help us to suspect HTT on FNA specimens and avoid radical surgery. With this purpose we have collected 6 cases diagnosed of HTT in Hospital Clínico San Carlos of Madrid (Spain) in the last 10 years and reviewed the cytological specimens. We conclude that the presence of hyaline material in FNA specimens of HTT is a constant feature being a diagnostic clue. We must be cautious not to confuse it with dense colloid or amyloid material, the latter seen in Medullary Carcinoma. Papillary architecture and fibrovascular cores are not present in a HTT. Special stains as ki-67, calcitonin and Congo Red staining could help us in achieving the correct diagnosis. We feel the cytopathologists must be aware of the distinguishing features of this lesion, mainly the typical hyaline material to achieve a proper diagnosis and be able to reduce unnecessary aggressive management of these patients.

Histopathological profiles of Albino rats induced with Viscum album leaf and stem aqueous extracts

Background: Viscum album is a hemiparasitic shrub that grows on various tree species and contains diverse active substances. Objectives: The histopathology of the toxic effects of Viscum album leaf and stem aqueous extracts from host plants Azadirachta indica (neem), Psidium guajava (guava), and Acacia albida on organs of albino rats was evaluated. Methodology: Thirty-five (35) albino rats divided into 7 groups (A-G) of 5 albino rats each was exposed to graded doses of 100, 200, 400, 800, 1600, 3200, and 6400mg/kg using the intraperitoneal route. The experimental rats were observed for 24 hours and subsequently sacrificed and their organs including liver, kidney, lungs, and heart were subjected to histopathology for any ultra-structural changes. Results: The histopathological findings indicate that the liver had vacuolar degeneration of hepatocytes and congestion of sinusoids for 800mg/kg of Viscum album (Azadirachta indica: neem) stem extract, and widespread vacuolar degeneration of hepatocytes at 3200mg/kg for Viscum album (Acacia albida) stem extract. The kidneys had congestion, tubular necrosis with deposition of hyaline materials in the intratubular lumen and capsular space of the glomerulus, and glomerular atrophy at 400mg/kg of Viscum album (Psidium guajava: guava) leaf extract, but indicated marked congestion, and tubular necrosis with 3200mg/kg of Viscum album (Psidium guajava: guava) stem. The lungs had marked thickening of the interstitium by edema fluid, red blood, and mononuclear cell infiltration at 3200mg/kg of Viscum album (Acacia albida) leaf extract. The heart had multifocal areas of mild necrosis of the myocytes with 3200mg/kg Viscum album (Azadirachta indica: neem) leaf extract, and multifocal areas of moderate haemorrhages with 3200mg/kg Viscum album (Psidium guajava: guava) leaf extract. Conclusion: Aqueous extracts of Viscum album in this study had bioactive components that could be toxic.

Sclerosis in Sex Cord-Stromal Tumors Other Than the Sclerosing Stromal Tumor: A Report of 70 Cases.

Sclerosis is well-known in sclerosing stromal tumors (SSTs), as its name indicates, but has not been evaluated in other ovarian sex cord-stromal tumors (SCSTs). Its presence in other SCSTs has sporadically caused diagnostic problems in cases we have seen, and this prompted us to review SCSTs with appreciable sclerosis; tumors containing at least 20% sclerosis were included. Seventy cases were identified: 20 thecomas, 20 juvenile granulosa cell tumors (JGCTs), 8 adult granulosa cell tumors (AGCTs), 5 sex cord tumors with annular tubules, 6 retiform Sertoli-Leydig cell tumors (SLCTs; all of the intermediate differentiation), 4 nonretiform SLCTs (3 well-differentiated, 1 of intermediate differentiation with heterologous elements), 4 Sertoli cell tumors, and 3 microcystic stromal tumors (MSTs). Paucicellular sclerotic zones comprised 20% to 95% of the tumors and when conspicuous often obscured diagnostic features. Thirty-one tumors (10 thecomas, 19 JGCTs, 1 AGCT, and 1 MST) showed sclerotic zones focally enveloping nodules of tumor cells, imparting a pseudolobular appearance, and sclerosis often occurred within lobules as well. Ten of these (5 thecomas and 5 JGCTs) also had prominent staghorn blood vessels, generating a low-power appearance focally similar to SST. In 17 tumors, the sclerosis resulted in "compression" of the tumor cells into cords and/or solid tubules. Correct diagnosis in these cases is dependent on careful examination of the cellular zones of the neoplasms, but awareness of the extent of sclerosis that may be seen in diverse SCSTs may be crucial in suggesting the correct diagnosis particularly when the material is limited as in the intraoperative setting. Our findings highlight for the first time the occurrence and character of sclerosis in sex cord tumors other than SSTs and fibromas. Sclerosis is seen in descending proportion of the tumor types as follows: retiform SLCTs, thecomas, MSTs, JGCTs, sex cord tumors with annular tubules, Sertoli cell tumors, AGCTs, and nonretiform SLCTs. Its character can vary somewhat, having particular features in the sex cord tumor with annular tubules (hyaline material within tubules often coalescing and extending beyond the nests to form confluent aggregates) and retiform SLCTs (common in papillary cores).

Histological Effects of Aqueous Extract of Saffron Flowers Crocus sativus on Ovaries and Oviduct of Females White Mice Mus musculus

The present study was conducted to identify the histological effects of the aqueous extract of saffron flower on ovaries and oviducts of the adult female mouse at doses of 15, 30 and 60 mg/kg of body weight (b.w.).for the periods 7,15 and 30 days, respectively and once a day. Behavioral changes were include the abnormal hyperactivity, irritability followed by introversion and reduction of motor activity, as well as loss of appetite for food and drinking water for several hours. The results showed histopathological changes of mice ovaries at a dose of 15 mg /kg of B.W. for the above periods a slight increase in primordial follicles, congestion of blood vessels, necrosis and degeneration. At a dose of 30 mg/kg. there was slight deposition of hyaline material, deposition of hemosiderin dye, congestion and increase of primordial follicles numbers, while at a dose of 60 mg/kg lymphatic cells infiltration were observed, with some ovarian stromal cells decaying. while the oviduct, and for the above periods changes included thickening of canal wall, endothelial cells degeneration and blood vessel congestion in the muscular area at a dose of 15 mg/kg, increased flattening of the mucosal folds also was observed. At a dose of 30mg /kg. an increased damage with increased blood vessels congestion, fibrosis of oviduct wall and degeneration of the external muscle layer of the oviduct at a dose of 60 mg /kg was obvious.

A CASE OF ORPHAN HYALINE FIBROMATOSIS SYNDROME IN UKRAINE

Background. Hyaline fibromatosis syndrome is a rare, highly dramatic, autosomal recessive multisystem disorder. The basis of the disease is the abnormal diffuse deposition of hyaline material in the connective tissue and internal organs. Mutations in the CMG2 gene (also known as the ANTXR2 gene) cause the disease. CMG2 encodes a transmembrane protein involved in endothelial development. Hyaline fibromatosis syndrome involves two allelic diseases that have the same phenotype. These are infantile systemic hyalinosis and juvenile hyaline fibromatosis. Common signs of these diseases are pain, joint contractures, skin lesions (thickening of the skin with areas of hyperpigmentation, pearl-sized nodules or papules), subcutaneous nodules on the head, neck, and extremities, gingival hypertrophy, osteopenia, protein-losing enteropathy, increased susceptibility to infectious diseases. Diseases differ in the time of the first clinical signs onset, the severity of the course, and the life expectancy of patients. In the case of infantile systemic hyalinosis, the prognosis is fatal. Hyaline fibromatosis syndrome is an orphan disease that is very difficult to diagnose. There is no pathogenetic treatment for the disease today. Clinical case. We described a case of hyaline fibromatosis syndrome in a boy who was observed and treated at the Municipal Non-Profit Enterprise of Sumy Regional Council "Regional Children's Clinical Hospital" (Ukraine). The diagnosis was made based on medical and genetic analysis. The early manifestation of symptoms and the severe course of the disease forced us to think about infantile systemic hyalinosis in the child. Along with characteristic external phenotypic signs, severe enteropathy with protein loss and persistent infections were observed in the child. As far as we know, this is the first case of the disease diagnosed in Ukraine. This publication aims to draw medical professionals' attention to the diversity of the course of genetic diseases in children. Comprehensive care, timely and symptomatic treatment make it possible to prolong the life of patients.

Cytological Diagnosis of Castleman Disease by Endoscopic Ultrasound Guided Fine Needle Aspiration.

Castleman disease is a nonmalignant, lymphoproliferative disorder. Unicentric disease type involves a single enlarged lymph node or nodal regions, and multicentric disease involves multiple lymph node site involvement. We present a case of 26-year-old young female presented to outpatient with complaint of generalized weakness and abdominal pain for last 2 months. Her imaging included positron emission computed tomography which showed soft-tissue mass along the body of pancreas. Endoscopic ultrasound done showed nodal mass with extensive calcification and doppler endoscopic ultrasound showing arborising vessels. Fine needle aspiration cytology (FNAC) and biopsy taken showed lymphoid cells and diffuse hyaline material. After suboptimal response to chemotherapy regimen, she underwent open laparotomy and excision of the retroperitoneal mass.

Lichen amyloidosis with combined topical therapy: a case report

Introduction: Lichen amyloidosis (LA) is a rare case, characterized by circumscribed, highly pruritic, hyperkeratotic, and hyperpigmented papules occurring typically over the shins, outer aspects of upper arms, and on the upper back with amyloid deposits in the papillary dermis. Several therapeutic strategies, including topical steroids, oral antihistamines, cyclosporine, retinoids, laser, phototherapy, cryosurgery, and surgical interventions, have been reported as treatment options for patients with LA, but no standardized treatment has been established.
 Case report: A 58-year-old man came to the Dermatovenereology Outpatient Department complaints of itchy blackish-brown papules on the shins. Dermatology examination found discrete multiple hyperpigmentation papules and plaque covered with white scale. A scar-like center surrounded by brownish circles or white edges was found from the dermoscopic examination. The histopathological examination found thickened keratin with compact orthokeratosis and hyaline materials in the papillary dermis with dendritic melanophages. The patient diagnosed with LA and treated by combining desoximetasone cream 0.25% with 3% salicylic acid. The papules on the legs had flattened in the patient, with a significant improvement in the severe itching after three weeks.
 Conclusion: Combination therapy of potent corticosteroids and keratolytic seems to be an appropriate modality and well-tolerated by LA patients. Skin lesion becomes thinner, and pruritus is reduced.

Endoscopic Ultrasound-Guided Fine Needle Aspiration of Solid Pseudopapillary Neoplasm of the Pancreas in a Male Patient: A Rare Report

Abstract Introduction/Objective Solid pseudopapillary neoplasm (SPN) of the pancreas is a rare pancreatic tumor with low malignant potential composed of poorly cohesive epithelial cells forming solid and pseudopapillary structures. It develops almost exclusively (90%) in young females (mean age: 28 years, range: 7-79 years), while it rarely develops in men (mean age: 35 years, range: 25-72 years). Methods/Case Report Herein we report an unusual presentation of SPN in a 59-year-old male who presented with severe nausea, vomiting, right upper quadrant pain, and weight loss. Computed tomography imaging revealed a large pancreatic head/uncinate process mass. Endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) biopsies showed abundant monomorphic cuboidal tumor cells arranged in loosely cohesive groups and singly dispersed cells. A few tumor cells are arranged in multiple layers around vascular structures expanded by metachromatic hyaline material. The tumor cells have thin cytoplasm, indistinct cell borders, round to oval nuclei, finely dispersed chromatin, and indistinct nucleoli. No mitosis, tumor necrosis, or other high-grade features are identified. Immunohistochemical stains are performed on cell block material and the tumor cells are positive for beta-catenin (nuclear), cyclin D1, vimentin, CD10, synaptophysin, and CD56, and negative for DOG-1, tryptase, and AE1/AE3. Ki-67 proliferative index is less than 2% in tumor cells. The cytomorphologic features and immunoreactivity are diagnostic of solid pseudopapillary neoplasm. We diagnosed SPN preoperatively by EUS-FNA using cytopathologic and immunochemical characteristics, which are very helpful to differentiate SPN from acinar cell carcinoma, neuroendocrine tumor, pancreatoblastoma, or other pancreatic tumors. Results (if a Case Study enter NA) NA Conclusion EUS-FNA can be used as a gold standard method to characterize and diagnose SPN preoperatively and help to guide clinical management.

Lipoid Proteinosis Due to Homozygous Nonsense Mutation in Extracellular Matrix Protein 1 (ECM1) Gene in Three Pakistani Siblings

Introduction Urbach–Wiethe disease (or lipoid proteinosis) is an autosomal recessive genetic disease. It is caused by a mutation in the extracellular matrix protein 1 gene (ECM1), resulting in deposition of hyaline material at the dermoepidermal junction of the skin, around blood vessels, and at multiple other sites. Case presentation The present report describes three siblings born to nonconsanguineous parents who presented with hoarseness, macroglossia, yellow waxy skin, beaded papules on the eyelids, atrophic scars, and recurrent skin infections. Histopathologic examination showed hyaline deposition at the interface between the dermis and epidermis and at the basal lamina of blood vessels. Exome sequencing revealed a homozygous nonsense variant in ECM1. This variant created a premature stop codon, leading to loss of function. Both parents were heterozygous for the same mutation. Conclusion This report is a useful addition to the current knowledge base regarding this phenotypically and genetically variable genodermatosis, which is rarely reported in Pakistan.

S3089 Monoclonal Immunoglobulin Deposition Disease: A Rare Case of Acute Liver Failure

Introduction: Light chain deposition disease (LCDD) is a characterized by deposition of immunoglobulin light chain in extracellular tissue. Classically it involves the kidneys, however, can rarely affect other organs such as liver. Its manifestation is mostly non-specific and presents as mild cholestatic liver injury and, acute liver failure is extremely rare. Case Description/Methods: An 83-year-old female with Monoclonal Gammopathy of Undetermined Significance (MGUS) was admitted to the hospital for dyspnea and anasarca. Her initial labs were remarkable for mild, predominantly cholestatic, pattern of liver injury. Additional workup was negative for common etiologies of liver injury, with normal appearance of liver and new-onset diastolic cardiac dysfunction. Initial diagnosis was acute liver injury in the setting of recent heart failure and treatment with aggressive diuresis was commenced. However, she progressed to acute liver dysfunction and multi-organ failure manifesting as encephalopathy, jaundice (T.Bili 16.25) and coagulopathy (INR 1.3). Her Alk-Phos was 1116 and AST, ALT were 289 and 95, respectively. Liver biopsy revealed deposition of pink hyaline material expanding the sinusoids. This was initially suspected to be amyloid, until a positive PAS and negative Congo-Red stain established the diagnosis of LCDD. SPEP revealed a M-protein light chain with elevated κ/λ ratio of 16.6. Chemotherapy was rejected considering poor prognosis and patient was discharged on hospice care. Discussion: LCDD results from excessive production and deposition of monoclonal light chains into various organs including liver. Concurrent plasma cell dyscrasias and multiple myeloma are often seen in these patients. High suspicion of disease and biopsy without delay is imperative for diagnosis, which typically show granular, κ LC predominant deposits in the perisinusoidal basement membrane which unlike amyloid, appear unorganized and stain positive with PAS and negative with Congo-Red. At present, there is no consensus on LCDD treatment, however, autologous stem cell transplant following bone marrow conditioning with high dose melphalan and bortezomib based induction chemotherapy with or without systemic glucocorticoids have been reported to treat hepatic and systemic LCDD with some success.

Assessment of dynamic thiol-disulfide homeostasis in patients with lipoid proteinosis (Urbach-Wiethe syndrome).

SUMMARYOBJECTIVE:Lipoid proteinosis is a rare autosomal recessive genetic dermatological disease that occurs due to the accumulation of hyaline material in the skin and mucous membranes. This study aimed to investigate whether dynamic thiol-disulfide homeostasis is a new marker of oxidative stress in patients suffering from lipoid proteinosis.METHODS:The study group involved 17 patients with lipoid proteinosis and 17 healthy controls with same gender and age. Native thiol, total thiol, disulfide levels, and thiol-disulfide indexes were measured with the fully automated spectrophotometric method described by Erel and Neselioglu, and the results of the two groups were statistically analyzed.RESULTS:Serum total thiol and native thiol levels were significantly lower in lipoid proteinosis group compared to the control group (p=0.020 and p=0.014, respectively). The disulfide levels were found to be higher in lipoid proteinosis group, but there was no significant difference between two groups.CONCLUSIONS:Impaired dynamic thiol-disulfide homeostasis was observed in lipoid proteinosis patients, suggesting that thiol-disulfide homeostasis may have a role in the pathogenesis of this disease.