Alagille syndrome associated with total anomalous pulmonary venous connection and severe xanthomas:A case report

BACKGROUND Alagille syndrome(ALGS)is an autosomal dominant genetic disorder caused by mutations in the JAG1 or NOTCH2 gene.It is characterized by decreased intrahepatic bile ducts associated with a variety of abnormalities in many other organ systems,such as the cardiovascular,skeletal,and urinary systems.CASE SUMMARY We report a rare case of ALGS.A 1-month-old male infant presented with sustained jaundice and had a rare congenital heart disease:Total anomalous pulmonary venous connection(TAPVC).Sustained jaundice,particularly with cardiac murmur,caught our attention.Laboratory tests revealed elevated levels of alanine aminotransferase,aspartate aminotransferase,gamma-glutamyl transpeptidase,total bilirubin,and total bile acids,indicating serious intrahepatic cholestasis.Imaging confirmed the presence of butterfly vertebra at the seventh thoracic vertebra.This suggested ALGS,which was confirmed by genetic testing with a c.3197dupC mutation in the JAG1 gene.Ursodiol was administered immediately after confirmation of the diagnosis,and cardiac surgery was performed when the patient was 1.5 month old.He recovered well after treatment and was discharged at the age of 3 mo.At the age of two years,the patient returned to our clinic because multiple cutaneous nodules with xanthomas appeared,and their size and number increased over time.CONCLUSION We report a unique case of ALGS associated with TAPVC and severe xanthomas.This study has enriched the clinical manifestations of ALGS and emphasized the association between JAG1 gene and TAPVC.

Pleomorphic cutaneous xanthomas disclosing homozygous familial hypercholesterolemia

Homoxygous Familial Hypercholesterolemia is characterized by a presence of several types of cutaneous xanthomas with an abnormal lipid profile. Some of these could be pathognomonic. Although these could be initially interpreted as isolated and localized benign disorders and offered surgical treatment, it has become increasingly clear that they could be a part of a systemic pathology. Here we describe a case of this rare disorder in a 19 years old non-obese young man who presented multiple, intertriginous, tuberous and tendinous xanthomas and had an associated abnormal lipid profile with elevated lowdensity lipoprotein cholesterol levels. A detailed history with clinical assessment in the differential diagnosis and laboratory investigations led to a precise diagnosis.

Eruptive xanthomas in a patient with severe hypertriglyceridemia:A case report

BACKGROUND Xanthomatosis,a metabolic disorder causing yellow growths(xanthomas),poses challenges in lipid metabolism.This case study introduces the first documented instance within China's Yi population,emphasizing the need to explore dietary habits and treatment strategies tailored to this specific community.CASE SUMMARY Xanthomatosis is a metabolic disorder where lipid metabolism goes awry,resulting in the development of yellowish growths called xanthomas.A male patient,47 years of age,from China's Yi population,who is obese,visited our dermatology clinic complaining of widespread,non-painful rashes that have been present for two weeks.The patient works as a chef and has a diet that frequently includes oily and greasy foods.This case represents the initial documentation of xanthomatosis within the Yi population in China,offering a theoretical foundation for understanding dietary patterns and treatment options specific to the Yi community.CONCLUSION The first report of xanthomatosis in the Yi population in China lays a theoretical foundation for understanding Yi dietary patterns and treatment.

Giant xanthogranuloma of the pelvis with S1 origin: Complete removal with only posterior approach, technical note

Xanthogranulomas(XG) are benign proliferative disorder of histiocytes, a non-Langerhans cell histiocytosis. Whose etiology is unknown. The nature of these lesions is controversial and could be either reactive or neoplastic;the presence of monoclonal cells does, however, favor the second hypothesis. Xanthogranuloma is frequently found in young adults and children(under 20 years old), mainly in the skin. In about 5%-10% of all Juvenile XG(JXG) cases xanthogranuloma are extracutaneous. Within this group, the site most frequently involved is the eye. Other involved organs are heart, liver, adrenals, oropharynx, lung, spleen, central nervous system and subcutaneous tissue, although involvement of the spine is uncommon. Isolated lesions involving the sacral region are extremely rare. To date, this is the first reported case of a giant JXG arising from S1 with extension into the pelvic region in an adult spine.

Cutaneous markers of coronary artery disease

Coronary artery disease (CAD) is rapidly increasing in prevalence across the world and particularly in south Asians at a relatively younger age. As atherosclerosis starts in early childhood, the process of risk evaluation must start quite early. The present review addresses the issue of cutaneous markers associated with atherosclerosis, and the strengths and weaknesses of the markers in identifying early coronary atherosclerosis. A diligent search for such clinical markers, namely xanthelasma, xanthoma, arcus juvenilis, acanthosis nigricans, skin tags, ear lobe crease, nicotine stains, premature graying in smokers, hyperpigmented hands in betel quid sellers, central obesity, and signs of peripheral vascular disease may prove to be a rewarding exercise in identifying asymptomatic CAD in high risk individuals.

有病理学的破裂的 humeri 的双边的主要黄瘤: 一份案例报告

Xanthomas are rare bone tumors that occur more often in the appendicular skeleton and typically appear radiographically benign,with a narrow zone of transition and a sclerotic rim.We report the case of a 57-year-old woman with hyperlipidemia presenting with bilateral shoulder pain after minor trauma.Radiographic and histopathologic investigation demonstrated intraosseous xanthoma with atypical features,including multifocality,a wide zone of transition and pathologic fractures-characteristics more commonly associated with aggressive lesions such as multiple myeloma or metastasis.The diagnosis,imaging,and histological appearance of xanthoma of bone are reviewed.

Diffuse xanthoma in early esophageal cancer: A case report

BACKGROUND Gastrointestinal xanthomas are asymptomatic and infrequent non-neoplastic lesions that commonly occur in the stomach with Helicobacter pylori-associated gastritis and rarely in the esophagus.To date,there have been no reports of esophageal xanthoma combined with esophageal cancer.Herein,we present the first case in the literature of a diffuse xanthoma complicated with early esophageal cancer.Moreover,this combination makes the endoscopic diagnosis difficult if it is not in mind.CASE SUMMARY A 68-year-old man visited our department with a 2-mo history of epigastric discomfort.He underwent surgery for gastric cancer 6 years ago.Esophagogastroduodenoscopy showed a semi-circumferential irregular yellowish-colored and granular lesion in the esophagus(30-35 cm from the incisors).Using magnifying endoscopy with narrow band imaging,aggregated minute and yellowish-colored spots with tortuous microvessels on the surface were observed,and background coloration was clearly seen in the lesion.As endoscopic biopsy suggested a histologically high-grade dysplasia;the lesion was completely resected en bloc by endoscopic submucosal dissection(ESD).The resected specimen was confirmed to be a squamous cell carcinoma in situ with extensive foamy cells in the superficial mucosal layer.Immunohistochemically,the observed foamy cells were strongly positive for CD68,which is characteristic of xanthoma.The clinical course was favorable,and no recurrence was observed 2 years and 7 mo after ESD.CONCLUSIONDiffuse xanthoma concurrent with early esophageal cancer is extremely rare.The characteristic endoscopic features may assist endoscopists in diagnosing similar lesions.

Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation:A case report

BACKGROUND Cerebrotendinous xanthomatosis is an autosomal recessive disorder of lipid metabolism caused by the mutation of the CYP27A1 gene encoding sterol 27-hydroxylase,an essential enzyme for the conversion of cholesterol to chenodeoxycholic and cholic acids.Cerebrotendinous xanthomatosis is a rare neurological dis-ease with a wide range of clinical symptoms that are easily misdiagnosed.CASE SUMMARY Here we report the clinical,biochemical,and molecular characterization of a 33-year-old female patient with cerebrotendinous xanthomatosis.The patient developed ataxia and had the typical symptoms of juvenile cataracts,tendon xanthomata,and progressive nervous system dysfunction.Magnetic resonance imaging of the brain revealed bilateral dentate nucleus lesions and white matter abnormalities.This patient was misdiagnosed for 2 years resulting in severe neurological complications.After 2 years of chenodeoxycholic acid treatment,she still presented with ataxia and dysarthria.The pathogenic sites of CYP27A1 were identified as c.255+1G>T and c.1263+1G>T,which were both caused by shear denaturation.CONCLUSION Cerebrotendinous xanthomatosis requires a multidisciplinary diagnosis that must be made early to avoid progressive neurological degeneration.c.1263+1G>T is a known mutation,but c.255+1G>T is a rare mutation site.

Histopathological, Immunohistochemical and Exfoliative Cytological Studies of Oral Verruciform Xanthoma

Verruciform xanthoma is a rare tumor-like lesion, predominantly affecting the oral mucosa. Although several studies of verruciform xanthoma have been reported, the characteristic features and pathogenesis have not been fully clarified. The purpose of the present study is to perform immunohistochemical analysis using markers of proliferative cell activity and cytokeratins, and to perform comparative analysis between cytological and histological features in order to clarify the characteristic features of verruciform xanthomas. Histological findings showed exophitic proliferation of stratified squamous epithelium and accumulation of foamy macrophages between epithelial processes. Immunohistochemically, accumulated foamy cells showed positive immuno-reactivity for CD68, and positive cells were also present in the epithelium. Expression of pancy-tokeratin was observed in most layers of the epithelium, whereas cytokeratin 13 was also detected in prickle cell layers. Positive reactivity for Ki-67 was observed in epithelial cell nuclei. Positive reactivity was largely distributed in basal and/or parabasal cell layers, and the positive cell rate was 20%. In addition, exfoliative cytological findings showed hyperkeratotic epithelial cells with picnosis, thus suggesting the characteristics of hyperplastic epithelium in verruciforma, although foamy cells were not observed in the cytological specimens. These results suggest that benign morphological characteristics with local cellular immune response of verruciform xanthoma may be evaluated based on immunohistochemical expression of cytokeratin and Ki-67, as well as exfoliative cytological findings.

Bilateral Achilles Tendon Xanthoma in an 18-Year-Old Patient

Background: Xanthomas are rare, non-neoplastic lesions which occur due to defect in the LDL receptors leading to their accumulation in tendons and synovium. The prevalence of heterozygous familial hypercholesterolaemia (HFH) is approximately 1 in 500. Aim: To study a rare case of bilateral achilles tendon xanthoma and its functional outcome. Case Presentation: We presented a case of xanthoma over posterior aspect of both lower third legs just above the heel in an 18-year-old female, and diagnosis was confirmed by clinical examination ultrasound and MRI, for which subtotal resection was planned and further followed up. Postoperative treatment consisted of six weeks long leg cast immobilization. After 10 weeks the patient started walking without any difficulties. Conclusion: Subtotal resection of achilles tendon xanthoma has given a good functional outcome. There is no need for reconstruction of tendon in every case.

Bilateral Tibial Xanthoma in a Normolipidemic Patient—Report of a Rare Case with Review of Literature

Xanthoma of bone is a rare benign bone disorder. It radiologically presents as a lytic lesion, often with cortical expansion or disruption, mimics primary bone tumors and metastatic lesions. Histopathological study gives the definitive diagnosis. Xanthoma of bilateral tibia in a normolipidemic patient is rare and not yet reported in literature. Here with we present one such rare case, with review of literature.

An unexpected urinary bladder xanthoma:Case report

In spite of the fact that xanthomas of the skin,tendons and mucosae are relatively common conditions,urinary bladder xanthoma is a rare benign lesion,only occasionally reported in literature.It usually appears as an exophytic mass into the bladder cavity,which often worries the clinicians,because it is considered as a neoplasm that need both an excision and follow-up.We herein describe the 32nd case,accidentally identified in a 63-year-old man with a right urinary bladder mass on follow-up abdominal ultrasound scan for a previous open pyeloplasty.He also referred mild obstructive lower urinary tract symptoms.Consequently,a cystoscopy with biopsies was performed and the subsequent histopathological examination was consistent with the diagnosis of urinary bladder xanthoma.Therefore,no additional therapeutics interventions were needed,and the patient currently presents nor symptoms,recurrences,or other pathologies.Although its rarity,it is important to correctly identify urinary bladder xanthoma,differentiating it from other pathological entities which present similar histopathological characteristics,but which sometimes could be associated with a patients’dismal prognosis.Moreover,an accurate diagnosis of urinary bladder xanthoma can avoid both additional treatments and follow up,but also allows to recognize some potential detrimental pathologies which could be associated with it,such as either an altered lipid metabolism or urothelial neoplasms.Proper and prompt recognition and treatment of these last can notably improve patient’s outcome.