Histopathological maturation in juvenile xanthogranuloma: a blueberry muffin infant mimicking aleukemic leukemia cutis.

Juvenile xanthogranuloma (JXG) is usually identified by Touton giant cells, so their absence can complicate diagnosis. We encountered a case of non-typical neonatal JXG lacking Touton giant cells, which was difficult to differentiate from aleukemic leukemia cutis because of overlapping histopathological characteristics. A 1 month-old girl presented with a blueberry muffin rash and multiple 1-2 cm nodules within the subcutaneous and deeper soft tissues. Blood tests revealed pancytopenia. The initial nodule biopsy showed mononuclear cell infiltration, suggestive of mature monocytes or histiocytes, but no Touton giant cells. Bone marrow examination showed no evidence of leukemia. Despite worsening of the rash, pancytopenia, and weight gain over the following month, the results of the second biopsy remained consistent with the initial findings. Consequently, we provisionally diagnosed aleukemic leukemia cutis and initiated chemotherapy. After two courses of chemotherapy, the pancytopenia improved, but the nodules only partially regressed. A third biopsy of the nodule was performed to evaluate the histological response, and revealed Touton giant cells, confirming the diagnosis of JXG. In conclusion, distinguishing non-typical JXG from aleukemic leukemia cutis is challenging. This case highlights the importance of multiple biopsies and the potential for histopathological maturation.

Ophthalmic histiocytic lesions (diseases of the L group): A multicenter clinicopathological study of 18 cases and review of literature.

INTRODUCTION: Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD) are rare histiocytic disorders in the L (Langerhans) group diseases. They range from self-limited benign diseases to lethal disseminated forms. METHODS: This retrospective study was conducted in 3 tertiary hospitals in Saudi Arabia and Brazil. Histopathological records were searched for all patients diagnosed with ocular and periocular histiocytic disorders from January 1993 to December 2018. Histopathological slides and medical files were reviewed for data collection and simple analysis of demographics, clinical manifestations, and management. The relevant literature is reviewed. RESULTS: Twenty-two eyes of 18 patients with biopsy-proven histiocytic disorders in the L group were included. Female-to-male ratio was 1.25:1. Average age at presentation was 14 years (range, 1-54). LCH was diagnosed in 14 eyes, while eight eyes had ECD. All LCH cases were unilateral and confined to the bone as cases of eosinophilic granuloma (EG), while patients with ECD were bilateral. Commonest presentations in EG and ECD were eyelid swelling (85.7%) and periocular xanthomas (75%), respectively. Orbit was involved in 100% of EG cases, with bony erosion in 54.5%. Relevant systemic involvement was found in 100% of ECD and 21% of EG cases. Surgical intervention was needed in 16 of the 22 eyes (72.7%). All EG and 25% of patients with ECD required surgical excision. CONCLUSIONS: Histiocytic disorders are a rare group of diseases, including the L group. Relevant systemic associations require specific and selective therapy. A high clinical index and multidisciplinary collaboration are essential for the proper evaluation and management of these patients.

Apoptotic enteropathy, gluten intolerance, and IBD-like inflammation associated with lipotoxicity in DGAT1 deficiency-related diarrhea: a case report of a 17-year-old patient and literature review.

We present a long-term follow-up in a 17-year-old girl with DGAT1-related diarrhea, an autosomal recessive disorder characterized by impaired triglyceride absorption. Neonatal presentation included severe congenital diarrhea, protein-losing enteropathy, and failure to thrive requiring total parenteral nutrition. Duodenal biopsies revealed apoptotic enteropathy and acute inflammation with the presence of macrophages and Touton giant cells, related to the intake of fat. She was able to switch to enteral nutrition on a fat-free diet. However, at age 10, she developed gluten-induced enteropathy and then IBD-like inflammation 5 years later. Immunohistochemistry was able to confirm the diagnosis, while DGAT1 sequencing remained inconclusive. This highlights the role of histopathology and immunohistochemistry, despite the increasing importance of genetic analysis in the diagnostic work-up. This report also illustrates that parenteral nutrition weaning is possible in DGAT1-related diarrhea, but gut barrier dysfunction might increase the risk of autoimmune intestinal disease.

Xanthogranulomatus inflammatory lesion mimicker of malignancy: A clinicopathological study from rural India.

OBJECTIVE: Xanthogranulomatus inflammation is an uncommon variant of chronic inflammation and a well-established pathological entity involving various organs and systems. It may be associated with infection and obstruction, defective lipid transport, immunological disturbances, and often confused as a malignant neoplasm. The confirmative diagnosis is made on histopathology. METHODS: This is a retrospective study conducted from January 2008 to April 2020 on histopathologically diagnosed xanthogranulomatus lesions. All the relevant available data regarding age, sex, and organ involvement were collected from histopathology lab records. The macroscopic and microscopic evaluation of cases was also done. This study was aimed to determine the significance of histopathology in the diagnosis of xanthogranulomatus lesions, revealing pathological changes, and clinicopathological correlation. RESULTS: In the current study, there were 93 cases of xanthogranulomatus inflammatory lesion. Gall bladder was frequently involved 70 (75.27%), followed by 5 (5.37%) kidney, gastrointestinal Tract 6 (3 [3.23%] cases in colon and 3 [3.23%] in appendix, respectively), and others. The maximum number of cases was in the age group of 31-40 years with 24 (25.80%) cases. The female to male sex ratio was 2.3:1. CONCLUSION: Awareness and knowledge of xanthogranulomatus inflammatory lesion is significant to the pathologist and surgeon to prevent extensive surgery. This lesion often mimics as malignancy and confirmatory diagnosis is made on histopathology. Thus, every excised specimen must be examined histopathologically to diagnose and rule out differential.

Granulomas en dermatopatología: principales entidades. Parte I / Granulomas in Dermatopathology: Principal Diagnoses - Part 1

En esta serie de 2 artículos realizamos una revisión de las principales entidades dermatopatológicas que cursan con granulomas. Esta primera parte se ha centrado en la aclaración de los conceptos, la presentación de los tipos de granulomas y de las células gigantes, así como en entidades muy diversas de origen no infeccioso. Algunas de ellas de origen metabólico, como la necrobiosis lipoídica: otras relacionadas con linfomas, como la micosis fungoides granulomatosa, y otras tan extendidas que casi resultan un problema cotidiano en las consultas de dermatología, como la rosácea (AU)

This series of 2 articles on dermatopathologic diagnoses reviews conditions in which granulomas form. Part 1 clarifies concepts, discusses the presentation of different types of granulomas and giant cells, and considers a large variety of noninfectious diseases. Some granulomatous diseases have a metabolic origin, as in necrobiosis lipoidica. Others, such as granulomatous mycosis fungoides, are related to lymphomas. Still others, such as rosacea, are so common that dermatologists see them nearly daily in clinical practice (AU)

Granulomas en dermatopatología: principales entidades. Parte II / Granulomas in Dermatopathology: Principal Diagnoses — Part 2

Esta es la segunda parte de una serie dedicada a la patología granulomatosa en la biopsia cutánea. Mientras que en la primera parte hablamos, entre otras, de algunas condiciones metabólicas y tumorales, esta segunda parte abordará fundamentalmente patología infecciosa de diversos tipos, junto con otras condiciones relativamente frecuentes en las consultas de dermatología (AU)

Part 2 of this series on granulomatous diseases focuses on skin biopsy findings. Whereas the first part treated noninfectious conditions (metabolic disorders and tumors, among other conditions), this part mainly deals with various types of infectious disease along with other conditions seen fairly often by clinical dermatologists (AU)

Granulomas in Dermatopathology: Principal Diagnoses - Part 1. / Granulomas en dermatopatología: principales entidades. Parte I.

This series of 2 articles on dermatopathologic diagnoses reviews conditions in which granulomas form. Part 1 clarifies concepts, discusses the presentation of different types of granulomas and giant cells, and considers a large variety of noninfectious diseases. Some granulomatous diseases have a metabolic origin, as in necrobiosis lipoidica. Others, such as granulomatous mycosis fungoides, are related to lymphomas. Still others, such as rosacea, are so common that dermatologists see them nearly daily in clinical practice.

Granulomas in Dermatopathology: Principal Diagnoses - Part 2. / Granulomas en dermatopatología: principales entidades. Parte II.

Part 2 of this series on granulomatous diseases focuses on skin biopsy findings. Whereas the first part treated noninfectious conditions (metabolic disorders and tumors, among other conditions), this part mainly deals with various types of infectious disease along with other conditions seen fairly often by clinical dermatologists.

Eyelid Juvenile Xanthogranuloma: A Case Report and Literature Review.

Juvenile xanthogranuloma (JXG) is an uncommon condition affecting the eye. We herein report a rare case of eyelid swelling in paediatric age group. A three-year-old Malay boy presented with chronic painless left upper eyelid mass which did not resolve with topical steroid. Clinically, the mass was a non-tender and firm nodular swelling which located at the lateral 1/3 of the left upper lid. Total excisional biopsy of the swelling was done and histopathological findings were consistent with JXG. The systemic associations and the treatment options for ocular JXG are discussed.

Giant Juvenile Xanthogranuloma: Case Report, Literature Review, and Algorithm for Classification.

Juvenile xanthogranuloma (JXG) is a member of the non-Langerhans cell group of proliferative disorders of mononuclear phagocytes. JXG is a benign tumour of histiocytic cells. Classic JXG is divided into 2 main clinical subtypes: dome-shaped papules (<0.5 cm) and single/multiple nodules (<2.0 cm). A rare variant is referred to as giant; this term encompasses JXG lesions larger than 2.0 cm. In this article, we report a case of a congenital cutaneous giant JXG. In addition, we reviewed and analyzed all cases (n = 51) of giant JXG reported in the English literature. We propose an algorithm for classifying giant JXG based on the following factors: onset of lesions (congenital and acquired), number of lesions (solitary ± satellites and multiple), morphology of cutaneous/mucosal lesions (plaque, nodular, ulcerated-nodular, macular, and other), and extracutaneous manifestations.

Intraocular juvenile xanthogranuloma of the iris in an adult patient.

PURPOSE: Juvenile xanthogranuloma (JXG) is a rare histiocytic skin disease primarily of young children, which may also affect ocular structures and in particular the iris. OBSERVATIONS: This is a case report of a fifty-year-old patient without skin lesions showing a progressive decrease of visual acuity, iris vascularization and a yellowish iris tumor in the iridocorneal angle of his right eye. Treatment with topical and systemic prednisolone led to full recovery of visual acuity, tumor regression and restitutio ad integrum. CONCLUSIONS AND IMPORTANCE: Although the juvenile xanthogranuloma is a very rare skin disease of young children, it may also affect the eye and in particular the iris in adult patients. There exists no standard treatment, the first-line therapy in most cases, however, is topical and systemic prednisolone application.

[Xanthoma disseminatum with asymptomatic multisystem involvement]. / Xanthoma disseminatum avec atteinte viscérale multifocale asymptomatique.

BACKGROUND: Xanthogranulomas belong to non-Langerhans histiocytosis of the second group in the Histiocyte Society classification. They comprise a heterogeneous group of rare entities frequently involving cutaneous tropism. Xanthoma disseminatum belongs to this group of non-Langerhans histiocytosis. We report a case of xanthoma disseminatum (XD) in which localized skin and mucous impairment revealed multisystem involvement. PATIENTS AND METHODS: A 28-year-old man presented with a two-year history of progressive yellow-orange and infiltrated xanthomatous papulonodular lesions of the face. Lesions of the oral mucosa and genital region were seen, with no functional repercussions. No ophthalmic or other complications were found. Histopathology showed a dense histiocytic infiltrate within the dermis with Touton giant cells, foamy multinucleated giant cells and inflammatory cells, without necrobiosis. Histiocytes were positive for CD68 but negative for CD1a. Gastric and lung involvement was seen and was confirmed at histology. Bone scintigraphy showed suspicious left ulnar hyperfixation suggesting bone involvement. No monoclonal gammopathy or diabetes insipidus was seen. Our patient was treated with corticosteroids 1mg/kg/day and thalidomide 100 mg/day. The outcome was marked by regression and exfiltration of the cutaneous lesions from the second week of treatment, with subsidence continuing at 3 months. DISCUSSION: This case involves a very rare form of xanthoma disseminatum. The localized facial skin lesions revealed multifocal non-Langerhans histiocytosis that was in fact asymptomatic. The diagnosis of XD was based on clinical, histological and immunohistochemical criteria. Xanthoma disseminatum is a non-Langerhans histiocytic proliferation first described by Montgomery in 1938. This rare entity is characterized by skin and mucous membrane xanthomatosis in which the facial involvement is common, together with diabetes insipidus and normal lipid metabolism. The prognosis is determined by the presence of mucosal xanthomas and visceral involvement. Thus, all xanthogranulomas involving multiple lesions warrant screening for visceral involvement. Diagnosis of this entity can be difficult and is usually based on clinical and histopathological findings. In addition, treatment is complex and non-consensual.

Adult Orbital Xanthogranulomatous Disease in a 42-Year-Old Woman

PURPOSE: To report a case of adult orbital xanthogranulomatous disease presented as bilateral swelling and yellowish eyelids in a 42-year-old woman who was misdiagnosed with xanthelasma at a dermatologic clinic. CASE SUMMARY: A 42-year-old woman presented yellowish and swollen eyelids in both eyes of 2.5 year duration. She had no past history of systemic diseases or other ophthalmologic problems. MRI showed heterogeneous eyelid masses and hypertrophic changes of the lacrimal glands in both eyes. There were no abnormalities on chest X-ray exams. The blood cholesterol and low density lipoprotein levels were increased. Incisional biopsy showed many foamy histiocytes, lymphocytes with germinal centers, several touton giant cells, and negative S100/CD 1 staining; all being features consistent with adult onset xanthogranulomatous disease. CONCLUSIONS: In cases with bilateral swelling and yellowish colored eyelids, adult orbital xanthogranulomatous disease should be evaluated through biopsy and other systemic examinations.