Xanthogranuloma, Juvenile
Necrobiotic Xanthogranuloma
Xanthomatosis
Necrobiotic Disorders
Granuloma
Sella Turcica
Eyelid Diseases
Skull Base Neoplasms
Scleral Diseases
Craniopharyngioma
Radiological and clinicopathological features of orbital xanthogranuloma. (1/28)
BACKGROUND: Orbital xanthogranuloma, a diagnosis confirmed histologically, occurs rarely in adults and children. With its characteristic macroscopic appearance the adult form may be associated with a spectrum of biochemical and haematological abnormalities including lymphoproliferative malignancies. METHOD: The clinicopathological features and imaging appearances on computed tomography and magnetic resonance imaging of this condition are described in eight adults and a child. RESULTS: Radiological evidence of proptosis was present in seven patients. In all nine patients an abnormal infiltrative soft tissue mass was seen, with increased fat in six cases. All patients had associated enlargement of extraocular muscles suggestive of infiltration and five had lacrimal gland involvement. Encasement of the optic nerve, bone destruction, and intracranial extension was present only in the child with juvenile xanthogranuloma. Haematological and/or biochemical abnormalities were detected in seven patients and seven patients had other systemic diseases which were considered to have an immune basis. One patient subsequently developed non-Hodgkin's lymphoma. CONCLUSION: The investigation and management of orbital xanthogranulomas requires a multidisciplinary approach even though the diagnosis may be suspected clinically. Imaging delineates the extent of disease and involvement of local structures and may influence the differential diagnosis. The juvenile form may be more locally aggressive, causing bone destruction with consequent intracranial extension. (+info)Giant orbital and intracranial xanthogranuloma--a short report. (2/28)
Xanthogranuloma are known to arise in the paranasal sinus or orbit. They may also arise primarily in the brain. Those arising from the sinuses or orbit might involve the intracranial cavity to some extent. But an extensive involvement of the cranial compartment is very rare. This report describes one such case. (+info)Outcome of liver disease in children with Alagille syndrome: a study of 163 patients. (3/28)
BACKGROUND AND AIMS: Various opinions have been expressed as to the long term prognosis of liver disease associated with Alagille syndrome (AGS). PATIENTS AND METHODS: We reviewed the outcome of 163 children with AGS and liver involvement, investigated from 1960 to 2000, the end point of the study (median age 10 years (range 2 months to 44 years)) being death, liver transplantation, or the last visit. RESULTS: At the study end point, of the 132 patients who presented with neonatal cholestatic jaundice, 102 remained jaundiced, 112 had poorly controlled pruritus, and 40 had xanthomas; cirrhosis was found in 35/76 livers, varices in 25/71 patients, and liver transplantation had been carried out in 44 patients (33%). Forty eight patients died, 17 related to complications of liver disease. Of 31 patients who did not present with neonatal cholestatic jaundice, five were jaundiced at the study end point, 17 had well controlled pruritus, and none had xanthomas; cirrhosis was found in 6/18 patients, varices in 4/11, and none underwent liver transplantation. Nine patients died, two of liver disease. In the whole series, actuarial survival rates with native liver were 51% and 38% at 10 and 20 years, respectively, and overall survival rates were 68% and 62%, respectively. Neonatal cholestatic jaundice was associated with poorer survival with native liver (p=0.0004). CONCLUSIONS: The prognosis of liver disease in AGS is worse in children who present with neonatal cholestatic jaundice. However, severe liver complications are possible even after late onset of liver disease, demanding follow up throughout life. (+info)Cellular pathology of homozygous familial hypercholesterolemia. (4/28)
Tissues were studied from four subjects with homozygous familial hypercholesterolemia (FH). The specimens consisted of tissues obtained from a 20-week-old fetus at autopsy, samples from a 9-year-old girl during open-heart surgery, and biopsies of cutaneous xanthomas from a 13-year-old girl and a 21-year-old man. The FH fetus, but not the 3 control fetuses, exhibited multifocal lipid deposition particularly involving the stromal cells of the thymus, spleen, and skin and both the stromal and parenchymal cells of the kidney. Only one minute focus of intimal lipid accumulation was found in the aorta and coronary arteries of the FH fetus. A segment of the ascending aorta from the 9-year-old girl showed: 1) foam-cell transformation of many medial smooth-muscle cells, 2) abnormal vascularization of the inner media and intima, and 3) intimal involvement by a typical artherosclerotic plaque with lipid deposits in thin, elongated cells that showed some myocytic features and in foam cells that lacked such features. The mitral and aortic valves of this patient also contained numerous foam cells and showed mild to moderate fibrous thickening. A segment of the saphenous vein, however, contained no lipid deposits. The three xanthomas from two FH homozygotes exhibited marked lipid accumulation in histiocytic foam cells but no lipid deposits in the endothelium of blood vessels in the lesions. The findings in this study, in conjunction with those reported in studies of other FH homozygotes, indicate that homozygous FH is characterized by accelerated atherosclerosis and prominent lipid accumulation in macrophages and other stromal cells of the aortic and mitral valves, skin, tendon, and, varibly, in other extravascular sites. Since most of the intracellular lipid was in the form of non-membrane-bound neutral lipid droplets, it appears that the cytoplasm is the major site of lipid storage in this disease. (+info)Solitary intramuscular nasal Juvenile Xanthogranuloma: a case report with review of literature. (5/28)
Juvenile Xanthogranuloma is a non-langerhans cell histiocytosis characterized by yellowish cutaneous nodules that usually appear in early infancy and childhood. Intramuscular variant is a rare form, with only eight reported cases, and none reported in ala of nose. Sheets of histiocytes, few touton giant cells and infiltrative borders makes it susceptible to misdiagnosis as childhood sarcomas or lymphoproliferative disorders. Awareness of the lesion aided by immunohistochemistry helps in reaching the proper diagnosis. (+info)Juvenile xanthogranuloma as an isolated corneoscleral limbal mass: a case report. (6/28)
A case of a juvenile xanthogranuloma of the corneoscleral limbus was encountered in a 5-year-old oriental boy, who presented with a 5-month history of a lump in the right eye. The lesion extended from the inferior limbus. This yellow-orange mass was vascular and firmly fixed to the underlying tissue. The lesion was diagnosed preoperatively as an atypical dermolipoma and an uneventful excisional biopsy was performed. The pathologic diagnosis showed the characteristic picture of a juvenile xanthogranuloma with numerous Touton giant cells. Dermoid and lipodermoid tumors, as a corneoscleral limbal mass, are the most frequently encountered in childhood. A juvenile xanthogranuloma is a rare and usually benign skin disease with an unknown cause, which occurs in infants and young children. However, it can occur also as a corneoscleral limbal mass in young children. (+info)A boy with autosomal recessive hypercholesterolaemia. (7/28)
We describe a 9-year-old Iranian boy with tuberous xanthomas, elevated LDL-cholesterol levels of 15.5 mmol/l, and vague complaints of chest pain while playing soccer. The consanguineous parents of the boy had normal cholesterol concentrations, which indicated an autosomal recessive disorder rather than autosomal dominant familial hypercholesterolaemia. The diagnosis of autosomal recessive hypercholesterolaemia (ARH) was confirmed by the presence of a mutation in the phosphotyrosine binding domain of a putative adaptor protein, which prevents normal internalisation of the LDL receptor (LDLR) in the liver. The clinical phenotype of ARH is similar to that of classical homozygous familial hypercholesterolaemia caused by defects in the LDLR gene, but it is more variable, generally less severe, and more responsive to lipid-lowering therapy. The patient's complaints of chest pain were not caused by ischaemia as was tested by an exercise and 24-hour electrocardiogram and by a myocardial perfusion scan. His LDL-C dropped by about 6o% after being treated with a combination of 40 mg atorvastatin and 10 mg ezetimibe. (+info)Bilateral spontaneous hyphema in juvenile xanthogranuloma. (8/28)
This report describes a rare occurrence of bilateral, spontaneous, nontraumatic hyphema in a 6 weeks old infant, associated with a small, multiple skin lesions. The diagnosis of juvenile xanthogranuloma was confirmed by histopathological examination of the cutaneous lesions. The hyphaema cleared gradually in 2 weeks time with conservative management. (+info)Juvenile xanthogranuloma (JXG) is a rare, benign type of histiocytic tumor that typically presents in infancy or early childhood. It is characterized by the proliferation of lipid-laden macrophages called xanthoma cells, along with Touton giant cells and other inflammatory cells. JXG usually appears as a single or multiple, firm, yellowish to reddish-brown papules or nodules on the skin. While most cases of JXG are self-limited and resolve without treatment, some may involve extracutaneous sites such as the eyes, mouth, bones, and internal organs, which can lead to complications. The exact cause of JXG remains unknown, but it is not considered a hereditary condition.
Necrobiotic xanthogranuloma (NXG) is a rare, progressive inflammatory disorder characterized by the formation of distinctive granulomatous lesions in the skin and occasionally in various visceral organs. The term "necrobiotic" refers to the presence of necrotic tissue within the lesions, while "xanthogranuloma" indicates the accumulation of foamy histiocytes (a type of white blood cell) and multinucleated giant cells.
The pathogenesis of NXG is not entirely understood, but it has been associated with monoclonal gammopathies, particularly those involving the M-protein IgG4. The disease typically affects middle-aged to older adults, with a slight female predominance.
Clinically, NXG presents as yellowish-red or violaceous papules, plaques, or nodules, often located on the periorbital area, eyelids, and less frequently on the trunk and extremities. The lesions may be asymptomatic or associated with mild pruritus, burning sensation, or pain. In some cases, NXG can lead to serious complications such as sight-threatening ocular involvement, kidney dysfunction, or neurological symptoms due to systemic dissemination.
Histopathologically, NXG lesions are characterized by the presence of necrobiotic areas surrounded by palisading histiocytes, T lymphocytes, and multinucleated giant cells, often with a cholesterol clefts and calcifications. The accumulation of foamy histiocytes is a hallmark feature of NXG.
The diagnosis of NXG is based on the clinical presentation, histopathological findings, and laboratory investigations to exclude associated conditions such as monoclonal gammopathies or other systemic disorders. Treatment options for NXG include topical and intralesional corticosteroids, systemic immunosuppressive agents, and targeted therapies against the underlying clonal gammopathy if present. Regular follow-up is essential to monitor disease progression and response to treatment.
Xanthomatosis is a medical term that refers to the condition characterized by the presence of xanthomas, which are yellowish, fat-laden deposits that form under the skin or in other tissues. These deposits consist of lipids, such as cholesterol and triglycerides, and immune cells called macrophages, which have engulfed the lipids.
Xanthomas can occur in various parts of the body, including the eyelids, tendons, joints, and other areas with connective tissue. They may appear as small papules or larger nodules, and their size and number can vary depending on the severity of the underlying disorder.
Xanthomatosis is often associated with genetic disorders that affect lipid metabolism, such as familial hypercholesterolemia, or with acquired conditions that cause high levels of lipids in the blood, such as diabetes, hypothyroidism, and certain liver diseases. Treatment typically involves addressing the underlying disorder and controlling lipid levels through dietary changes, medications, or a combination of both.
Necrobiotic disorders are a group of medical conditions characterized by the presence of necrosis (tissue death) and inflammation in various organs and tissues. These disorders can be caused by different underlying etiologies, including infections, autoimmune diseases, vasculitis, and malignancies.
One example of a necrobiotic disorder is necrobiosis lipoidica, which primarily affects the skin. It is a chronic inflammatory condition that typically presents as one or more well-circumscribed, yellowish-brown plaques with central atrophy and telangiectasia, often located on the lower legs. The lesions may be asymptomatic or tender to the touch, and they can ulcerate in some cases.
Another example is necrotizing fasciitis, a rapidly progressive and potentially life-threatening infection that involves the fascia and subcutaneous tissue. It is often caused by group A Streptococcus or other bacterial pathogens and requires prompt surgical intervention and antibiotic therapy to prevent further spread of the infection and potential sepsis.
Other necrobiotic disorders include necrotizing vasculitis, which affects blood vessels and can lead to tissue damage and organ dysfunction, and necrobiotic xanthogranuloma, a rare inflammatory condition that primarily affects the skin but can also involve other organs such as the eyes, kidneys, and liver.
Overall, necrobiotic disorders are complex medical conditions that require careful evaluation and management by healthcare professionals with expertise in the relevant fields.
Orbital diseases refer to a group of medical conditions that affect the orbit, which is the bony cavity in the skull that contains the eye, muscles, nerves, fat, and blood vessels. These diseases can cause various symptoms such as eyelid swelling, protrusion or displacement of the eyeball, double vision, pain, and limited extraocular muscle movement.
Orbital diseases can be broadly classified into inflammatory, infectious, neoplastic (benign or malignant), vascular, traumatic, and congenital categories. Some examples of orbital diseases include:
* Orbital cellulitis: a bacterial or fungal infection that causes swelling and inflammation in the orbit
* Graves' disease: an autoimmune disorder that affects the thyroid gland and can cause protrusion of the eyeballs (exophthalmos)
* Orbital tumors: benign or malignant growths that develop in the orbit, such as optic nerve gliomas, lacrimal gland tumors, and lymphomas
* Carotid-cavernous fistulas: abnormal connections between the carotid artery and cavernous sinus, leading to pulsatile proptosis and other symptoms
* Orbital fractures: breaks in the bones surrounding the orbit, often caused by trauma
* Congenital anomalies: structural abnormalities present at birth, such as craniofacial syndromes or dermoid cysts.
Proper diagnosis and management of orbital diseases require a multidisciplinary approach involving ophthalmologists, neurologists, radiologists, and other specialists.
A granuloma is a small, nodular inflammatory lesion that occurs in various tissues in response to chronic infection, foreign body reaction, or autoimmune conditions. Histologically, it is characterized by the presence of epithelioid macrophages, which are specialized immune cells with enlarged nuclei and abundant cytoplasm, often arranged in a palisading pattern around a central area containing necrotic debris, microorganisms, or foreign material.
Granulomas can be found in various medical conditions such as tuberculosis, sarcoidosis, fungal infections, and certain autoimmune disorders like Crohn's disease. The formation of granulomas is a complex process involving both innate and adaptive immune responses, which aim to contain and eliminate the offending agent while minimizing tissue damage.
The Sella Turcica, also known as the Turkish saddle, is a depression or fossa in the sphenoid bone located at the base of the skull. It forms a housing for the pituitary gland, which is a small endocrine gland often referred to as the "master gland" because it controls other glands and makes several essential hormones. The Sella Turcica has a saddle-like shape, with its anterior and posterior clinoids forming the front and back of the saddle, respectively. This region is of significant interest in neuroimaging and clinical settings, as various conditions such as pituitary tumors or other abnormalities may affect the size, shape, and integrity of the Sella Turcica.
Eyelid diseases refer to a variety of medical conditions that affect the function and/or appearance of the eyelids. These can include structural abnormalities, such as entropion (inward turning of the eyelid) or ectropion (outward turning of the eyelid), as well as functional issues like ptosis (drooping of the upper eyelid). Other common eyelid diseases include blepharitis (inflammation of the eyelid margin), chalazion (a blocked oil gland in the eyelid), and cancerous or benign growths on the eyelid. Symptoms of eyelid diseases can vary widely, but often include redness, swelling, pain, itching, tearing, and sensitivity to light. Treatment for these conditions depends on the specific diagnosis and may range from self-care measures and medications to surgical intervention.
Skull base neoplasms refer to abnormal growths or tumors located in the skull base, which is the region where the skull meets the spine and where the brain connects with the blood vessels and nerves that supply the head and neck. These neoplasms can be benign (non-cancerous) or malignant (cancerous), and they can arise from various types of cells in this area, including bone, nerve, glandular, and vascular tissue.
Skull base neoplasms can cause a range of symptoms depending on their size, location, and growth rate. Some common symptoms include headaches, vision changes, hearing loss, facial numbness or weakness, difficulty swallowing, and balance problems. Treatment options for skull base neoplasms may include surgery, radiation therapy, chemotherapy, or a combination of these approaches. The specific treatment plan will depend on the type, size, location, and stage of the tumor, as well as the patient's overall health and medical history.
Scleral diseases refer to conditions that affect the sclera, which is the tough, white outer coating of the eye. The sclera helps to maintain the shape of the eye and provides protection for the internal structures. Scleral diseases can cause inflammation, degeneration, or thinning of the sclera, leading to potential vision loss or other complications. Some examples of scleral diseases include:
1. Scleritis: an inflammatory condition that causes pain, redness, and sensitivity in the affected area of the sclera. It can be associated with autoimmune disorders, infections, or trauma.
2. Episcleritis: a less severe form of inflammation that affects only the episclera, a thin layer of tissue overlying the sclera. Symptoms include redness and mild discomfort but typically no pain.
3. Pinguecula: a yellowish, raised deposit of protein and fat that forms on the conjunctiva, the clear membrane covering the sclera. While not a disease itself, a pinguecula can cause irritation or discomfort and may progress to a more severe condition called a pterygium.
4. Pterygium: a fleshy growth that extends from the conjunctiva onto the cornea, potentially obstructing vision. It is often associated with prolonged sun exposure and can be removed surgically if it becomes problematic.
5. Scleral thinning or melting: a rare but serious condition where the sclera degenerates or liquefies, leading to potential perforation of the eye. This can occur due to autoimmune disorders, infections, or as a complication of certain surgical procedures.
6. Ocular histoplasmosis syndrome (OHS): a condition caused by the Histoplasma capsulatum fungus, which can lead to scarring and vision loss if it involves the macula, the central part of the retina responsible for sharp, detailed vision.
It is essential to consult an ophthalmologist or eye care professional if you experience any symptoms related to scleral diseases to receive proper diagnosis and treatment.
A craniopharyngioma is a type of brain tumor that develops near the pituitary gland, which is a small gland located at the base of the brain. These tumors arise from remnants of Rathke's pouch, an embryonic structure involved in the development of the pituitary gland.
Craniopharyngiomas are typically slow-growing and benign (non-cancerous), but they can still cause significant health problems due to their location. They can compress nearby structures such as the optic nerves, hypothalamus, and pituitary gland, leading to symptoms like vision loss, hormonal imbalances, and cognitive impairment.
Treatment for craniopharyngiomas usually involves surgical removal of the tumor, followed by radiation therapy in some cases. Regular follow-up with a healthcare team is essential to monitor for recurrence and manage any long-term effects of treatment.
Orbital neoplasms refer to abnormal growths or tumors that develop in the orbit, which is the bony cavity that contains the eyeball, muscles, nerves, fat, and blood vessels. These neoplasms can be benign (non-cancerous) or malignant (cancerous), and they can arise from various types of cells within the orbit.
Orbital neoplasms can cause a variety of symptoms depending on their size, location, and rate of growth. Common symptoms include protrusion or displacement of the eyeball, double vision, limited eye movement, pain, swelling, and numbness in the face. In some cases, orbital neoplasms may not cause any noticeable symptoms, especially if they are small and slow-growing.
There are many different types of orbital neoplasms, including:
1. Optic nerve glioma: a rare tumor that arises from the optic nerve's supportive tissue.
2. Orbital meningioma: a tumor that originates from the membranes covering the brain and extends into the orbit.
3. Lacrimal gland tumors: benign or malignant growths that develop in the lacrimal gland, which produces tears.
4. Orbital lymphangioma: a non-cancerous tumor that arises from the lymphatic vessels in the orbit.
5. Rhabdomyosarcoma: a malignant tumor that develops from the skeletal muscle cells in the orbit.
6. Metastatic tumors: cancerous growths that spread to the orbit from other parts of the body, such as the breast, lung, or prostate.
The diagnosis and treatment of orbital neoplasms depend on several factors, including the type, size, location, and extent of the tumor. Imaging tests, such as CT scans and MRI, are often used to visualize the tumor and determine its extent. A biopsy may also be performed to confirm the diagnosis and determine the tumor's type and grade. Treatment options include surgery, radiation therapy, chemotherapy, or a combination of these approaches.
Juvenile xanthogranuloma