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

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

Diffuse plane xanthoma (DPX) presents with symmetric yellow-orange plaques primarily on the neck, upper trunk, flexural folds, and the periorbital region. Based on serum lipid and lipoprotein levels, these xanthomas are classified as normolipemic or hyperlipoproteinemic DPX. Diffuse normolipemic plane xanthoma (DNPX) is a rare condition that is not well studied yet. It is associated with reticulo-endothelial diseases, particularly multiple myeloma and monoclonal gammopathy of unknown significance (MGUS). A 62-year-old woman developed yellowish hyperpigmented papules and diffuse patches in the medial canthal area of her neck. Based on a skin biopsy and laboratory analyses, she was diagnosed with DNPX associated with multiple myeloma. This diagnosis demonstrates that dermatological lesions should be carefully assessed as they may be the first manifestation of an underlying hematological disease. We report herein a rare case of diffuse plane xanthoma associated with multiple myeloma and review the relevant literature.
Biopsy ; Diagnosis ; Female ; Hematologic Diseases ; Humans ; Lipoproteins ; Middle Aged ; Multiple Myeloma ; Neck ; Paraproteinemias ; Skin ; Xanthomatosis

No abstract available.
Scrotum ; Xanthomatosis

No abstract available.
Humans ; Hyperlipoproteinemia Type II ; Xanthomatosis

No abstract available.
Humans ; Multiple Myeloma ; 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