Xanthomas are lipid-rich lesions that signal underlying dyslipidemias. From 2011 to 2022, the Philippine Dermatological Society reported 276 cases, with only 22 occurring in pediatric patients. Familial hypercholesterolemia (FH) is an autosomal dominant disorder with two variants. This case features interdigital xanthomas between the thumb and index finger, which are pathognomonic for the homozygous form and are associated with a higher risk of cardiovascular disease than the heterozygous form.

A 9-year-old girl presented with a two-year history of multiple, asymptomatic, yellowish papules and plaques on her elbows and knees, with no prior trauma or treatment. Interim, new plaques developed in flexural areas, prompting her consultation. Examination revealed yellowish lesions in the webspaces of both hands, knees, elbows, antecubital fossa, and popliteal fossa. Family screening indicated a history of hypercholesterolemia. The lipid profile confirmed hypercholesterolemia, low HDL, and a fourfold elevation of LDL, indicating three times the average risk for cardiovascular disease. Biopsy was consistent with xanthoma. The patient was started on Simvastatin 20 mg daily, along with dietary modifications and exercise recommendations. Family members were also screened. Follow-up tests showed decreased cholesterol and LDL levels, along with reduction in lesion size.

This case underscores the need to recognize xanthomas as indicators of FH. Although many individuals are affected, awareness of the condition is alarmingly low. Xanthomas should not be regarded as mere cosmetic lesions but as warning signs of other underlying conditions that necessitate prompt intervention. Implementing universal screening for children, along with cascade screening for family members is vital.

Objective: Clinical manifestations, imaging findings, pathologic features, and genetic mutations of Chinese adult patients with cerebrotendinous xanthomatosis (CTX) were analyzed in order to achieve a greater understanding of CTX that can improve early detection, diagnosis, and treatment. Methods: Clinical data including medical history, neurologic and auxiliary examinations, imaging findings, and genetic profile were collected for an adult patient with CTX admitted to the Sixth Medical Center of Chinese People's Liberation Army General Hospital in August 2020. Additionally, a systematic review of genetically diagnosed Chinese adult CTX cases reported in major databases in China and other countries was performed and age of onset, first symptoms, common signs and symptoms, pathologic findings, imaging changes, and gene mutations were analyzed. Results: The proband was a 39-year-old female with extensive, early-onset nervous system manifestations including cognitive dysfunction and ataxia. Systemic lesions included juvenile cataract and a tendon mass. Cranial magnetic resonance imaging revealed cerebral atrophy, symmetric white matter changes predominantly in the pyramidal tract, and lesions in the cerebellar dentate nucleus. A novel homozygous mutation in the sterol-27-hydroxylase (CYP27A1) gene (c.1477-2A>C) was identified. There were no family members with similar clinical presentation although some were carriers of the c.1477-2A>C mutation. The patient showed a good response to deoxycholic acid treatment. Totally there were 56 cases of adult CTX patients in China, mostly in East China (31/56, 55.4%), at a male-to-female ratio of 1.8 to 1. Multiple organs and tissues including nervous system, tendon, lens, lung, and skeletal muscle were affected in these cases. The most common neurologic manifestations were cognitive dysfunction (44/52, 84.6%) and ataxia (44/51, 86.3%). The cases were characterized by early onset, chronic progressive damage of multiple systems, long disease course, and delayed diagnosis, making the disease difficult to manage clinically and resulting in poor prognosis. The 2 most common genetic mutations in Chinese adult CTX patients were c.1263+1G>A and c.379C>T. Exon 2 of the CYP27A1 gene was identified as a mutation hot spot. Conclusions: Chinese adult patients with CTX have complex clinical characteristics, a long diagnostic cycle, and various CYP27A1 gene mutations. Early diagnosis and intervention can improve the prognosis of these patients.
Humans ; Male ; Adult ; Female ; Xanthomatosis, Cerebrotendinous/pathology* ; Pedigree ; Cholestanetriol 26-Monooxygenase/genetics* ; Mutation ; Ataxia

Carotid Artery Diseases ; Carotid Artery, Common ; Carotid Artery, Internal/diagnostic imaging* ; Humans ; Xanthomatosis

Introduction: Non-Langerhans cell histiocytoses (non-LCH) are a group of rare diseases with varied clinical manifestations and overlapping features seen among the subtypes. Here, we present a case of Rosai-Dorfman disease with features of necrobiotic xanthogranuloma. Case: A 45-year-old female presented with a 10-year history of an enlarging neck mass with normal overlying skin accompanied by dysphagia and multiple asymptomatic pink to yellowish-brown papules, nodules, and plaques on the face, trunk and extremities. Biopsies of a skin nodule and plaque revealed granulomatous dermal infiltrates (lymphocytes, foamy histiocytes, and Touton giant cells), emperipolesis and areas of necrosis. CD1A and Fite-Faraco staining showed negative results while CD68 and S100 positively stained the tissues of interest. Histopathology of the neck mass paralleled these findings in addition to being negative for lymphoid markers. Patient had monoclonal gammopathy and thyromegaly with enlarged cervical lymph nodes on further tests and imaging. Intralesional and systemic steroids were given which led to flattening of skin lesions and improvement in dysphagia, respectively. Conclusion Diagnosis and classification of a particular type of non-LCH may be difficult due to similarities across its subtypes. Hence, it is our belief that these diseases may occur on a spectrum. Treatment involves a multidisciplinary approach for the best possible care.
Histiocytosis ; Histiocytosis, Sinus ; Necrobiotic Xanthogranuloma

Abdominal Pain ; Adult ; Appetite ; Child ; Deglutition Disorders ; Diagnosis ; Endoscopy ; Gastritis ; Helicobacter pylori ; Histiocytes ; Humans ; Incidental Findings ; Male ; Nausea ; Pediatrics ; Stomach Neoplasms ; Vomiting ; Xanthomatosis

No abstract available.
Humans ; Hyperlipoproteinemia Type II ; Xanthomatosis

Several studies have conclusively established an association between upper gastrointestinal diseases such as gastric cancer and Helicobacter pylori (H. pylori) infection; thus, it is important to assess H. pylori infection based on endoscopic findings. The Kyoto classification of gastritis is a classification that comprehensively describes the association between an individual's H. pylori infection status and endoscopic findings. Characteristic endoscopic findings in uninfected individuals include a regular arrangement of collecting venules, fundic gland polyps, and red streaks, among other such features. Characteristic endoscopic findings in patients with current H. pylori infection include diffuse and spotty mucosal erythema, atrophy, intestinal metaplasia, enlarged or tortuous folds, secretion of sticky mucus, mucosal nodularity, foveolar hyperplastic polyps, and/or xanthomas. Characteristic endoscopic findings in previously infected individuals include patchy and map-like mucosal erythema. This classification can reflect the risk of gastric cancer and can benefit primary care physicians, as well as expert endoscopists owing to its easy applicability in routine clinical practice.
Atrophy ; Classification ; Erythema ; Gastritis ; Gastrointestinal Diseases ; Helicobacter pylori ; Humans ; Metaplasia ; Mucus ; Physicians, Primary Care ; Polyps ; Stomach ; Stomach Neoplasms ; Venules ; Xanthomatosis

Estimating the risk of Helicobacter pylori (H. pylori)-induced gastric cancer during endoscopic examination is important. Owing to recent advances in gastrointestinal endoscopy, the gross appearance of the background gastric mucosa has enabled discrimination of subjects with active, chronic, and past H. pylori infection from those with no history of infection. To provide subjective criteria for H. pylori infection-related endoscopic findings with increased risk of gastric cancer, the Kyoto classification of gastritis was proposed at the 85th annual meeting of the Japanese Society for Gastrointestinal Endoscopy in May 2013 in Kyoto. The main contents focus on determining the gastric cancer risk by scoring the endoscopic findings of the background gastric mucosa from 0 to 8. These important findings are not described in the Kyoto Global Consensus Conference proceedings published in English. To better estimate the gastric cancer risk during screening endoscopy in an H. pylori-prevalent population, knowledge of the Japanese version of the Kyoto classification is important. This new classification emphasizes the discrimination of subjects with H. pylori infection by assessing 19 endoscopic findings (presence of atrophy, intestinal metaplasia, diffuse redness, spotty redness, mucosal swelling, enlarged folds, sticky mucus, chicken skin-like nodularity, foveolar-hyperplastic polyp, xanthoma, depressed erosion, regular arrangement of collecting venules, fundic gland polyp, linear red streak, raised erosion, hematin deposit, multiple white and flat-elevated lesions, patchy redness, and map-like redness). In this review, the validity of the Kyoto classification is summarized in conjunction with several suggestions to resolve emerging H. pylori infection-related problems in Korea.
Asian Continental Ancestry Group ; Atrophy ; Chickens ; Classification ; Consensus ; Discrimination (Psychology) ; Endoscopy ; Endoscopy, Gastrointestinal ; Gastric Mucosa ; Gastritis ; Helicobacter pylori ; Helicobacter ; Hemin ; Humans ; Korea ; Mass Screening ; Metaplasia ; Mucus ; Polyps ; Stomach Neoplasms ; Venules ; Xanthomatosis

BACKGROUND/AIMS: Fundic gland polyps (FGPs), hyperplastic polyps (HPs), and xanthomas (XTs) are common benign gastric lesions that can be diagnosed by endoscopic appearance alone in most cases. The aim of this study was to evaluate associations between gastric cancer and these benign lesions. METHODS: Two expert endoscopists reviewed a series of gastroscopy images. FGPs, HPs, and XTs were diagnosed by endoscopic appearance, whereas all gastric cancers were confirmed pathologically. RESULTS: Of the 1,227 patients reviewed, 114 (9.3%) had a concurrent or past history of gastric cancer. The overall prevalences of FGPs, HPs and XTs were 9.4%, 6.3% and 14.2%, respectively. HPs and XTs coexisted in 1.6% of patients, whereas other combinations were rarer. XTs were observed in 39.3% and 11.5% of patients with and without gastric cancer, respectively (p<0.001). In contrast, no gastric cancer patients had FGPs, whereas 10.4% of patients without cancer had FGPs (p<0.001). The prevalence of HPs was similar between the two groups (8.8% and 6.0% of patients with and without cancer, respectively, p=0.29). Multivariate and Mantel-Haenszel analyses demonstrated that XTs were positively associated and FGPs were negatively associated with gastric cancer. CONCLUSIONS: XTs and FGPs might be useful as endoscopic risk indicators for monitoring gastric cancer.
Gastroscopy ; Humans ; Polyps ; Prevalence ; Stomach Neoplasms ; Xanthomatosis

BACKGROUND/AIMS: In the ABC classification system, group A consists of seronegative subjects without gastric corpus atrophy. This study aimed to determine the prevalence and characteristics of pseudo group A subjects. METHODS: Group A subjects were identified among consecutive Korean adults who underwent a serum anti-Helicobacter pylori immunoglobulin G (IgG) test and pepsinogen (PG) assay on the day of endoscopy. Past infection was defined as the presence of either eradication history or endoscopic findings suggesting past infection (i.e., gastric xanthoma, metaplastic gastritis, or advanced atrophy >closed-type 1). RESULTS: Among 2,620 group A subjects, 448 (17.1%) had eradication history, and 133 (5.1%) showed endoscopic findings suggesting past infection. Older age (odds ratio [OR], 1.148; 95% confidence interval [CI], 1.067 to 1.236) and earlier year of birth (OR, 1.086; 95% CI, 1.009 to 1.168) were independent risk factors for classification into pseudo group A, with cutoff points at 50.5 years and birth year of 1959.5, respectively. Positive H. pylori test findings were found in 22 subjects (3.1%) among the 715 subjects who underwent the urea breath test or Giemsa staining on the same day. Current infection was positively correlated with PG I and PG II levels (p<0.001) but not with age, anti-H. pylori IgG titer, or classification into pseudo group A. CONCLUSIONS: Among the group A subjects, 22.2% had past infection. The risk was higher in subjects older than 50 years, especially those born before 1960. Furthermore, current infection was found in 3.1% of the subjects and was correlated with increased gastric secretory ability.
Adult ; Atrophy ; Azure Stains ; Breath Tests ; Classification ; Endoscopy ; Gastritis ; Helicobacter pylori ; Humans ; Immunoglobulin G ; Parturition ; Pepsinogen A ; Prevalence ; Risk Factors ; Urea ; Xanthomatosis