ABSTRACT
@#A 15-year-old, Indian, female child of a second-degree consanguineous marriage, presented with polymorphic yellowish-brown nodular cutaneous lesions over the dorsal aspect of both elbows, knees (Figure 1A) and buttocks (Figure 1B). These were suggestive of xanthoma tuberosum and were first noted at 4 years old. There were no spots over the eyelids, acanthosis, skin tags or tendon xanthomas. Arcus juvenilis was not noted. A bilateral carotid bruit was appreciated.
Subject(s)
Xanthomatosis , HypercholesterolemiaABSTRACT
Los xantomas cutáneos reflejan el depósito de lípidos en la piel y pueden ser la única manifestación temprana de dislipidemias de inicio en la infancia. Las características y distribución de los xantomas orientan a la patología de base; los xantomas tuberosos tienen una fuerte asociación con la hipercolesterolemia homocigota familiar, una patología muy infrecuente. Su detección temprana otorga una ventana terapéutica para prevenir la ateroesclerosis acelerada y la mortalidad. Se presenta el caso de una paciente que comenzó a los dos años con xantomas tuberosos, que fueron la clave diagnóstica para identificar la hipercolesterolemia homocigota familiar subyacente.
Cutaneous xanthomas reflect lipid deposition on the skin and may be the only early manifestation of a childhoodonset dyslipidemia. Characteristics and distribution of the xanthomas signalize the underlying pathology, tuberousxanthomas being strongly associated with homozygous familial hypercholesterolaemia, an extremely rare condition. Its early detection provides a therapeutic window to prevent accelerated atherosclerosis and mortality. We present the case of a patient who started at two years with tuberous xanthomas, which were the diagnostic clue to identify the underlying homozygous familial hypercholesterolaemia.
Subject(s)
Humans , Female , Child, Preschool , Xanthomatosis/diagnosis , Xanthomatosis/etiology , Xanthomatosis/drug therapy , Dyslipidemias , Hypercholesterolemia , Skin , Early DiagnosisABSTRACT
Verruciform xanthoma (VX) is a rare benign lesion of unknown etiology, with a rough or papillary aspect, painless, sessile, well-defined, most lesions do not exceed 2 cm in their largest diameter, the degree of keratinization of the surface influences color, varying white to red, affecting mainly the gingiva and alveolar mucosa, and can also be seen in skin and genital. Herein, we present a report a clinical case of oral verruciform xanthoma in the buccal mucosa associated with the lichen planus lesion, as well as the morphological and immunohistochemical characteristics of the lesion. The clinical diagnostic hypothesis of oral lichen planus of the white reticular lesions on the buccal mucosa and on the tongue was confirmed by histopathology before a subepithelial connective tissue exhibiting intense inflammatory infiltrate in a predominantly lymphocytic band. In contrast, the hypothesis of the verrucous lesion in the left buccal mucosa was leukoplakia, with histopathological evidence showing exophytic and digitiform proliferations with parakeratin plugs between the papillary projections. Subepithelial connective tissue was characterized by macrophages with foamy cytoplasm (xanthoma cells). An immunohistochemical examination was performed, showing positivity for CD68, a macrophage marker, in addition to testing by Schiff's periodic acid (PAS) with diastasis, which was detected the presence of lipids inside these macrophages. The patient is free of recurrences of verruciform xanthoma and is being monitored due to the presence of lesions of oral lichen planus.
Subject(s)
Humans , Female , Aged , Xanthomatosis/complications , Lichen Planus, Oral/complications , Immunohistochemistry , Xanthomatosis/pathology , Lichen Planus, Oral/pathology , Mouth Mucosa/pathologySubject(s)
Humans , Male , Skin Diseases/pathology , Xanthomatosis/pathology , Histiocytosis, Non-Langerhans-Cell/pathology , Hepatitis C/pathology , Skin Diseases/etiology , Xanthomatosis/etiology , Histiocytosis, Non-Langerhans-Cell/etiology , Hepatitis C/complications , Dermis/physiology , Rare Diseases , Middle AgedABSTRACT
Subject(s)
Adult , Child , Humans , Male , Abdominal Pain , Appetite , Deglutition Disorders , Diagnosis , Endoscopy , Gastritis , Helicobacter pylori , Histiocytes , Incidental Findings , Nausea , Pediatrics , Stomach Neoplasms , Vomiting , XanthomatosisABSTRACT
Introdução: Xantelasmas são placas amareladas benignas que acometem pele de pálpebras e cursam com limitação funcional e queixa estética, impactando vida social e emocional. Com prevalência de 1,4% na população geral, predominam no sexo feminino e associam-se a hiperlipidemias, formados por deposições dérmicas de colesterol. De diagnóstico clínico, está indicada histopatologia em casos duvidosos. O tratamento de escolha é cirúrgico, através de exérese simples ou associada a blefaroplastia, epicantoplastia medial, retalhos locais e enxertos de pele total. Outras opções são terapia a laser, cauterização química com ácido tricloroacético, radiofrequência e crioterapia. Apesar da variedade terapêutica disponível, ainda são descritas na literatura taxas de recidiva local de até 40%. Objetivo: Analisar taxas de recidiva local associadas à ressecção cirúrgica enquanto tratamento de escolha para os xantelasmas. Métodos: Trata-se de estudo observacional retrospectivo, em que foram analisados prontuários de 18 pacientes submetidos à ressecção cirúrgica de xantelasmas pelo serviço de Cirurgia Plástica do Hospital Universitário da UFJF nos anos de 2016 a 2018. Foram avaliadas localização das lesões e taxas de recidiva local. Resultados: A localização das lesões mostrou-se predominante em pálpebras superiores, acometendo 10 pacientes (55%), sem predileção por lateralidade. Evoluíram com recidiva local 4 pacientes (22%). Conclusão: Os resultados do presente trabalho corroboram a hipótese de que taxas de recidiva local são menores em casos submetidos a tratamento cirúrgico, quando comparadas às descritas na literatura, bem como maior satisfação dos pacientes com os resultados estéticos apresentados. Conclui-se que a ressecção cirúrgica é segura e satisfatória em relação às demais terapêuticas. (AU)
Introduction: Xanthelasmas are benign yellowish plaques that affect the eyelid skin and cause functional limitation and aesthetic complaint, impacting social and emotional life. With a prevalence of 1.4% in the general population, they predominate in females and are associated with hyperlipidemias, formed by dermal cholesterol depositions. Clinically diagnosed, histopathology is indicated in doubtful cases. The treatment of choice is surgical, through simple or associated excision of blepharoplasty, medial epicantoplasty, local flaps and total skin grafts. Other options are laser therapy, trichloroacetic acid chemical cauterization, radiofrequency and cryotherapy. Despite the available therapeutic variety, local recurrence rates of up to 40% are still described in the literature. Objective: To analyze local recurrence rates associated with surgical resection as the treatment of choice for xanthelasmas. Methods: This was a retrospective observational study, which analyzed the medical records of 18 patients who underwent surgical resection of xanthelasmas by the Plastic Surgery Service of the University Hospital of UFJF from 2016 to 2018. We evaluated lesion location and recurrence rates. Results: The location of the lesions was predominant in the upper eyelids, affecting 10 patients (55%), with no preference for laterality. Four patients (22%) evolved with local recurrence. Conclusion: The results of the present study corroborate the hypothesis that local recurrence rates are lower in cases submitted to surgical treatment when compared to those described in the literature, as well as greater patient satisfaction with the aesthetic results presented. It is concluded that surgical resection is safe and satisfactory in relation to other therapies. (AU)
Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Aged , Aged, 80 and over , Young Adult , Xanthomatosis , Surgery, Plastic , Surgery, Plastic/instrumentation , EyelidsABSTRACT
OBJETIVO Presentación de un inusual caso de xantomatosis cerebrotendinosa en un paciente de edad cuya primera manifestación fueron xantomas bilaterales del tendón de Aquiles. MATERIAL Y MÉTODOS Mujer de 62 años, que presenta tumoraciones, que presenta tumoraciones sólidas y polilobuladas, en la cara posterior de ambos tendones de Aquiles de 8 años de evolución. El diagnóstico se realizó mediante el hallazgo de hiperlipidemia y estudio genético. Se realió la exóresis quirúrgica parcial de las tumoraciones. RESULTADOS A los 5 años de la cirugía del pie izquierdo y 4 años del pie derecho la paciente estaba asintomática. Presentaba una fuerza para la flexión plantar bilateral de 5/5, pudiendo caminar y subir escaleras sin molestias. Presentaba una escala AOFAS de 85 y 90 puntos en el pie izquierdo y derecho, respectivamente. No hubo recidivas. DISCUSIÓN Los xantomas son depósitos de colesterol en el tejido conectivo de la piel, tendones o fascia, como resultado de una hiperlipoproteinemia. La importancia del caso radica en su sospecha diagnóstica, ya que la xantomatosis cerebrotendinosa suele manifestarse en pacientes de menos de 30 años de edad y en los que se ha recomendado la resección radical de las tumoraciones, e incluso del tendón, debido a las frecuentes recidivas. CONCLUSIÓN En pacientes de mayor edad con lesiones que infiltran el tendón, se puede optar por un tratamiento menos agresivo con un buen resultado clínico.
OBJETIVE Presentation of an unusual case of cerebrotendinous xanthomatosis in an elderly patient whose first manifestation was bilateral Achilles tendon xanthomas. MATERIAL AND METHODS 62-year-old woman presenting solid and polylobed tumors on the posterior aspect of both Achilles tendons for eight years. The diagnosis was made by means of hyperlipidemia and a genetic study. Surgical partial excision of the tumors was performed. RESULTS Five years after surgery on the left foot and four years after the right foot, the patient was asymptomatic. Bilateral plantar flexion force was 5/5, The patient was able to walk and climb stairs without discomfort. AOFAS score was 85 and 90 on the left and right feet, respectively. There were no recurrences. DISCUSSION Xanthomatosis is a genetic alteration with deposits of cholesterol in connective tissue of the skin, tendons or fascia, because of hyperlipoproteinemia. The importance of the present case lies in its diagnostic suspicion, since cerebrotendinous xanthomatosis manifests usually in patients under 30 years of age and in whom radical resection of tumors, and even of the tendon, has been recommended due to frequent recurrences . CONCLUSION In older patients with tumors that infiltrate the tendon, a less aggressive treatment can be chosen with a good clinical result.
Subject(s)
Humans , Female , Middle Aged , Achilles Tendon , Xanthomatosis/surgery , Xanthomatosis/diagnosis , Xanthomatosis, Cerebrotendinous/complications , Tendinopathy/surgery , Tendinopathy/diagnosis , Magnetic Resonance Imaging , Xanthomatosis/etiology , Xanthomatosis/diagnostic imaging , Tendinopathy/etiology , Tendinopathy/diagnostic imaging , HyperlipidemiasABSTRACT
Atypical Fibroxanthoma is an unusual dermal mesenchymal tumor. It especially affects older adults and occurs in areas of sun exposure. We report a 75 years old male with a history of sun exposure without using a hat presenting with a scalp nodule. An incisional biopsy showed an atypical fibroxantoma. In a new surgical procedure, the tumor was completely excised. The tumor relapsed in two occasions after subsequent excisions and the patient was treated with adjuvant radiotherapy avoiding new relapses.
Subject(s)
Humans , Male , Aged , Scalp/pathology , Skin Neoplasms/pathology , Xanthomatosis/pathology , Skin Neoplasms/radiotherapy , Biopsy , Xanthomatosis/radiotherapy , Treatment OutcomeABSTRACT
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.
Subject(s)
Female , Humans , Middle Aged , Biopsy , Diagnosis , Hematologic Diseases , Lipoproteins , Multiple Myeloma , Neck , Paraproteinemias , Skin , XanthomatosisABSTRACT
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.
Subject(s)
Humans , Gastroscopy , Polyps , Prevalence , Stomach Neoplasms , XanthomatosisABSTRACT
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.
Subject(s)
Adult , Humans , Atrophy , Azure Stains , Breath Tests , Classification , Endoscopy , Gastritis , Helicobacter pylori , Immunoglobulin G , Parturition , Pepsinogen A , Prevalence , Risk Factors , Urea , XanthomatosisABSTRACT
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.
Subject(s)
Humans , Atrophy , Classification , Erythema , Gastritis , Gastrointestinal Diseases , Helicobacter pylori , Metaplasia , Mucus , Physicians, Primary Care , Polyps , Stomach , Stomach Neoplasms , Venules , XanthomatosisABSTRACT
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.
Subject(s)
Humans , Asian People , Atrophy , Chickens , Classification , Consensus , Discrimination, Psychological , Endoscopy , Endoscopy, Gastrointestinal , Gastric Mucosa , Gastritis , Helicobacter pylori , Helicobacter , Hemin , Korea , Mass Screening , Metaplasia , Mucus , Polyps , Stomach Neoplasms , Venules , XanthomatosisABSTRACT
Abstract: Fox-Fordyce disease is a relatively infrequent pathology of the apocrine glands that affects almost exclusively young women. The disease is characterized by the presence of pruritic follicular papules mainly in the armpits that respond poorly to treatment and severely affect the patient's quality of life. We report two cases with clinical diagnosis and histopathological confirmation, presenting perifollicular xanthomatosis on histological examination, recently described as a distinctive, consistent, and specific feature of this disease.
Subject(s)
Humans , Female , Adult , Young Adult , Xanthomatosis/pathology , Fox-Fordyce Disease/pathology , Immunohistochemistry , Xanthomatosis/etiology , Fox-Fordyce Disease/complicationsABSTRACT
@#<p>A 33-year-old male had a 22-year history of generalized xanthogranulomas but had a normal lipid profile. He also developed ulcerating plaques on his arm and back that were consistent with cutaneous tuberculosis on histopathologic and polymerase chain reaction PCR studies. In a normolipemic patient with generalized xanthogranulomas, a reactive granulomatous response of histiocytes to infection is explored since these share a common CD 14+ precursor with the macrophages that are vital in tuberculosis.</p>