Angiokeratoma
alpha-N-Acetylgalactosaminidase
Fabry Disease
alpha-Galactosidase
Trihexosylceramides
Enzyme Replacement Therapy
New Zealand
A case of angiokeratoma. (1/19)
Angiokeratoma is described by various authors as a rare variant of the hemangioma in the dog, characterized by a vascular component, like all types of vascular neoplasms, but also by an epithelial component. A case of angiokeratoma is described in a male 8-year-old dog. The tumor was located in heavily pigmented skin on the anterior surface of the front limb and not in the more usual previously described locations, eyelid and conjunctiva. Microscopic examination revealed a well-circumscribed mass with irregular hyperplasia of the epidermis and dilated vascular spaces filled with blood in the superficial dermis. (+info)Angiokeratomatous papilloma associated with papillomavirus in a calf. (2/19)
A female 8-month-old Simmental calf was presented with a history of a gradually enlarging mass in the ventral abdominal skin since 4 months of age. The mass was well circumscribed, lightly pigmented, and rough surfaced with many fine fissures and was attached to the skin by a relatively broad pedicle. On cut section, there was a border between the reddish-black stroma and overlying epithelium, including hemorrhagic foci of variable sizes. Histologically, the tumor was papillomatous with angiokeratomatous features and irregular hyperplasia with epidermal rete ridges and dilated vascular channels filled with blood in the superficial dermis. In the epidermis, orthokeratotic hyperkeratosis, variably sized keratohyalin granules, and many koilocytes, some of which had papillomavirus (PV) genus-specific structural antigen-positive nuclei, were also observed. Cells lining the dilated vascular spaces were positive for vimentin and alpha-smooth muscle actin but negative for factor VIII-related antigen, desmin, and PV. The lesion was regarded as an angiokeratomatous papilloma and was similar to other angiomatous lesions. (+info)The renal lesion in angiokeratoma corporis diffusum (Fabry's disease). (3/19)
Electron microscopic details of the glomerular and tubular lesions in a 26-year-old man with angiokeratoma corporis diffusum are presented. Though unable to concentrate urine above a specific gravity of 1.012, this patient showed preservation of the ability to acidify and alkalinize the urine following oral loads of ammonium chloride (150 mEq./day) and sodium bicarbonate (158 mEq./day) for several days. This observation is in contrast to previously reported findings and suggests that the regularly observed hyposthenuria in this disease does not depend on defects in ion transfer in the distal tubule system. (+info)Angiokeratoma of the scrotum: a case of scrotal bleeding. (4/19)
A 26-year-old man presented to the emergency department after a spontaneous 30 min bleed from his scrotal skin. He showed no other symptoms and denied any past medical history. He was exclusively sexually active, systemically well and haemodynamically stable. There were numerous (>50) 1-2 mm dark red, erythematous papules over the scrotum, sparing the shaft of penis, inner thigh and abdomen. A small area of blood marked the bleeding spot as a single papule. A diagnosis of angiokeratoma of the scrotum (Fordyce) was made and potential precipitants such as intra-abdominal masses, urinary tract tumours, varicoceles, hernias and angiokeratoma corporis diffusum (Fabry syndrome) were excluded. He was discharged with dermatology follow-up with a view to local laser treatment. The important differential diagnoses are angiokeratoma corporis diffusum and malignant melanoma (nodular type). In females, Fordyce angiokeratoma are distributed on labia majora. (+info)Angiokeratoma of the glans penis: clinical, histopathological and dermoscopic correlation. (5/19)
Angiokeratoma is a benign vascular lesion characterized by vascular ectasia in the upper dermis and hyperkeratosis. We report a case with lesions on the glans penis, a very rare location. In addition, we report the dermoscopic findings. (+info)Solitary angiokeratoma of the tongue. (6/19)
Angiokeratoma is a rare cutaneous lesion. It can be either a generalized systemic form, presenting as multiple asymptomatic papules on the skin, associated with metabolic diseases or a solitary cutaneous form. Oral cavity involvement is more common in the systemic form, as a part of a more generalized cutaneous disease, but very rare in the localized form of angiokeratoma. A 45-year-old female presented with a painless lesion on the tongue of one months duration, which bled occasionally. On clinical examination, a lesion of approximately 5 mm in diameter was observed on the left surface of the tongue. The lesion was purple in color with a granulomatous appearance. There were no other changes in the oral mucosa. On dermatologic examination, no angiokeratomas were found, anywhere on the skin. The lesion was excised under local anesthesia. The histologic diagnosis was angiokeratoma. A case of a solitary angiokeratoma of the tongue is reported. We report here the third intra-oral case and the second case in the tongue with solitary angiokeratoma. (+info)Solitary angiokeratoma of the tonsillar pillar of the oral cavity. (7/19)
Solitary angiokeratoma has rarely been described in oral mucosa, mainly in the tongue, where the main concern is either aesthetical or due to bleeding problems. We present a case of solitary angiokeratoma of the tonsillar pillar in a 68-year-old man. Histologically, the morphology was typical of angiokeratoma. It showed an immunohistochemical pattern in consonance with a blood vessel origin, with expression of CD31, CD34, and von Willebrand factor. The lesion did not express D2-40. No other malformation or metabolic disorder was found in the patient. The lesion was surgically removed and due to the disproportionate post-surgery bleeding, the patient was studied by the Hematology Service, and she was diagnosed as an inhibitor of Factor VIII carrier. (+info)Case study: the surgical management of angiokeratoma resulting from radiotherapy for penile cancer. (8/19)
(+info)Angiokeratoma is a cutaneous condition characterized by the presence of small, dilated blood vessels (capillaries) in the upper dermis, which are covered by thickened epidermis. These lesions appear as dark red to black papules or plaques on the skin surface. They can occur spontaneously or as a result of an underlying medical condition such as Fabry disease. Angiokeratomas are typically asymptomatic but may occasionally cause mild discomfort or itching. They most commonly affect the lower extremities, particularly the buttocks and genital region, but can also appear on other parts of the body.
Alpha-N-Acetylgalactosaminidase (also known as alpha-GalNAcase) is an enzyme that belongs to the class of glycoside hydrolases. Its systematic name is N-acetyl-alpha-galactosaminide galactosaminohydrolase. This enzyme is responsible for catalyzing the hydrolysis of the terminal, non-reducing N-acetyl-D-galactosamine residues in gangliosides and glycoproteins.
Gangliosides are sialic acid-containing glycosphingolipids found in animal tissues, especially in the nervous system. Glycoproteins are proteins that contain oligosaccharide chains (glycans) covalently attached to their polypeptide backbone.
Deficiency or dysfunction of alpha-N-Acetylgalactosaminidase can lead to various genetic disorders, such as Schindler and Kanzaki diseases, which are characterized by the accumulation of gangliosides and glycoproteins in lysosomes, leading to progressive neurological deterioration.
Fabry disease is a rare X-linked inherited lysosomal storage disorder caused by mutations in the GLA gene, which encodes the enzyme alpha-galactosidase A. This enzyme deficiency leads to the accumulation of glycosphingolipids, particularly globotriaosylceramide (Gb3 or GL-3), in various tissues and organs throughout the body. The accumulation of these lipids results in progressive damage to multiple organ systems, including the heart, kidneys, nerves, and skin.
The symptoms of Fabry disease can vary widely among affected individuals, but common manifestations include:
1. Pain: Acroparesthesias (burning or tingling sensations) in the hands and feet, episodic pain crises, chronic pain, and neuropathy.
2. Skin: Angiokeratomas (small, red, rough bumps on the skin), hypohidrosis (decreased sweating), and anhydrosis (absent sweating).
3. Gastrointestinal: Abdominal pain, diarrhea, constipation, nausea, and vomiting.
4. Cardiovascular: Left ventricular hypertrophy (enlargement of the heart muscle), cardiomyopathy, ischemic heart disease, arrhythmias, and valvular abnormalities.
5. Renal: Proteinuria (protein in the urine), hematuria (blood in the urine), chronic kidney disease, and end-stage renal disease.
6. Nervous system: Hearing loss, tinnitus, vertigo, stroke, and cognitive decline.
7. Ocular: Corneal opacities, cataracts, and retinal vessel abnormalities.
8. Pulmonary: Chronic cough, bronchial hyperresponsiveness, and restrictive lung disease.
9. Reproductive system: Erectile dysfunction in males and menstrual irregularities in females.
Fabry disease affects both males and females, but the severity of symptoms is generally more pronounced in males due to the X-linked inheritance pattern. Early diagnosis and treatment with enzyme replacement therapy (ERT) or chaperone therapy can help manage the progression of the disease and improve quality of life.
Tongue neoplasms refer to abnormal growths or tumors that develop in the tongue tissue. These growths can be benign (non-cancerous) or malignant (cancerous).
Benign tongue neoplasms may include entities such as papillomas, fibromas, or granular cell tumors. They are typically slow growing and less likely to spread to other parts of the body.
Malignant tongue neoplasms, on the other hand, are cancers that can invade surrounding tissues and spread to other parts of the body. The most common type of malignant tongue neoplasm is squamous cell carcinoma, which arises from the thin, flat cells (squamous cells) that line the surface of the tongue.
Tongue neoplasms can cause various symptoms such as a lump or thickening on the tongue, pain or burning sensation in the mouth, difficulty swallowing or speaking, and unexplained bleeding from the mouth. Early detection and treatment are crucial for improving outcomes and preventing complications.
Skin neoplasms refer to abnormal growths or tumors in the skin that can be benign (non-cancerous) or malignant (cancerous). They result from uncontrolled multiplication of skin cells, which can form various types of lesions. These growths may appear as lumps, bumps, sores, patches, or discolored areas on the skin.
Benign skin neoplasms include conditions such as moles, warts, and seborrheic keratoses, while malignant skin neoplasms are primarily classified into melanoma, squamous cell carcinoma, and basal cell carcinoma. These three types of cancerous skin growths are collectively known as non-melanoma skin cancers (NMSCs). Melanoma is the most aggressive and dangerous form of skin cancer, while NMSCs tend to be less invasive but more common.
It's essential to monitor any changes in existing skin lesions or the appearance of new growths and consult a healthcare professional for proper evaluation and treatment if needed.
Alpha-galactosidase is an enzyme that breaks down complex carbohydrates, specifically those containing alpha-galactose molecules. This enzyme is found in humans, animals, and microorganisms. In humans, a deficiency of this enzyme can lead to a genetic disorder known as Fabry disease, which is characterized by the accumulation of these complex carbohydrates in various tissues and organs, leading to progressive damage. Alpha-galactosidase is also used as a medication for the treatment of Fabry disease, where it is administered intravenously to help break down the accumulated carbohydrates and alleviate symptoms.
Trihexosylceramides are a type of glycosphingolipids, which are complex lipids found in animal tissues. They consist of a ceramide molecule (a sphingosine and fatty acid) with three hexose sugars attached to it in a specific sequence, typically glucose-galactose-galactose.
Trihexosylceramides are further classified into two types based on the type of ceramide they contain: lactosylceramide (Gal-Glc-Cer) and isoglobotrihexosylceramide (GalNAcβ1-4Galβ1-4Glc-Cer).
These lipids are important components of the cell membrane and play a role in various biological processes, including cell recognition, signal transduction, and cell adhesion. Abnormal accumulation of trihexosylceramides has been implicated in certain diseases, such as Gaucher disease and Tay-Sachs disease, which are caused by deficiencies in enzymes involved in their breakdown.
Enzyme Replacement Therapy (ERT) is a medical treatment approach in which functional copies of a missing or deficient enzyme are introduced into the body to compensate for the lack of enzymatic activity caused by a genetic disorder. This therapy is primarily used to manage lysosomal storage diseases, such as Gaucher disease, Fabry disease, Pompe disease, and Mucopolysaccharidoses (MPS), among others.
In ERT, the required enzyme is produced recombinantly in a laboratory using biotechnological methods. The purified enzyme is then administered to the patient intravenously at regular intervals. Once inside the body, the exogenous enzyme is taken up by cells, particularly those affected by the disorder, and helps restore normal cellular functions by participating in essential metabolic pathways.
ERT aims to alleviate disease symptoms, slow down disease progression, improve quality of life, and increase survival rates for patients with lysosomal storage disorders. However, it does not cure the underlying genetic defect responsible for the enzyme deficiency.
I'm sorry for any confusion, but "New Zealand" is not a medical term or concept. It is a country located in the southwestern Pacific Ocean, known for its stunning landscapes, unique wildlife, and as the filming location for the "Lord of the Rings" films. If you have any questions related to medicine or health, I'd be happy to try and help answer those for you!
Angiokeratoma - Wikipedia
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Find a Doctor Near YouDiffusum9
- Angiokeratoma corporis diffusum refers to Fabry's disease, but this is usually considered a distinct condition. (wikipedia.org)
- Unlike angiokeratoma of Mibelli or angiokeratoma corporis diffusum (Fabry disease), no pattern of inheritance or associated enzyme defect has been found for angiokeratoma circumscriptum. (medscape.com)
- Bij angiokeratomen in de genitale regio moet men ook bedacht zijn op de ziekte van Fabry ( angiokeratoma corporis diffusum ). (huidziekten.nl)
- Based on the clinical presentation and evolution, the current classification of angiokeratomas includes solitary and multiple angiokeratoma, angiokeratoma of Fordyce, angiokeratoma of Mibelli, angiokeratoma circumscriptum, and angiokeratoma corporis diffusum [ 1 , 2 , 3 ]. (cdlib.org)
- Angiokeratoma corporis diffusum is a symptom of Farby syndrome - a rare but serious genetic condition. (contourderm.com)
- It is also known as Anderson-Fabry disease and angiokeratoma corporis diffusum. (dermnetnz.org)
- Mornchan R. , Puvabanditsin P. Angiokeratoma Diffusum (Fabry 's disease): A Case Report. (ishrs.org)
- Fabry disease (also known as Fabry's disease, Anderson-Fabry disease, angiokeratoma corporis diffusum and alpha-galactosidase A deficiency) is a rare X-linked recessive (inherited) lysosomal storage disease, which can cause a wide range of systemic symptoms. (news-medical.net)
- Juvenile fucosidosis ( type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. (dictionary.net)
Corporis2
- Angiokeratoma circumscriptum has also been called angiokeratoma corporis naeviform and may be best classified as a type of capillary malformation. (medscape.com)
- Onder het angiokeratoma Fordyce (angiokeratoma scrotale Fordyce-Sutton, angiokeratoma corporis circumscriptum scrotale v. Fordyce) wordt verstaan angiomen met een hyperkeratotisch oppervlak, aan scrotum, glans of labia majora, vooral op oudere leeftijd voorkomend. (huidziekten.nl)
Fordyce5
- Angiokeratoma of Fordyce (also known as "Angiokeratoma of the scrotum and vulva," though not to be confused with Fordyce's spots) is a skin condition characterized by red to blue papules on the scrotum or vulva. (wikipedia.org)
- De naam Fordyce is ook verbonden aan ectopische talgklieren (Fordyce condition) en aan miliaria apocrina (ziekte van Fox-Fordyce) . (huidziekten.nl)
- Angiokeratoma of Fordyce is more common in men and presents as multiple lesions on the scrotum or vulva. (contourderm.com)
- Note also that I have googled and came across something called 'angiokeratoma of fordyce' that some people get, but mine doesn't look anything like that. (medhelp.org)
- But I only have just one tiny needle-thick sized angiokeratoma fordyce visible on the opposite side of the scrotum. (medhelp.org)
Lesions12
- Angiokeratoma lesions are of clinical importance because, often being dark purple or black, they may clinically mimic a malignant melanoma. (medscape.com)
- In many cases, angiokeratoma lesions are present at birth, but they may also appear in childhood or adulthood. (medscape.com)
- Angiokeratoma circumscriptum lesions are asymptomatic benign vascular malformations that require no treatment. (medscape.com)
- Angiokeratomas are relatively rare vascular lesions characterized by ectasias of the papillary dermal blood vessels with secondary epidermal changes in the form of acanthosis and /or hyperkeratosis. (cdlib.org)
- Angiokeratomas are relatively rare vascular lesions characterized by dilatations of the papillary dermal blood vessels with secondary epidermal changes of acanthosis and /or hyperkeratosis [ 1 ]. (cdlib.org)
- Angiokeratomas are benign vascular skin lesions composed of dilated capillaries. (contourderm.com)
- Angiokeratoma of Mibelli is most common in young females and typically appears as one or multiple lesions on the fingers and toes. (contourderm.com)
- What are the characteristic angiokeratoma skin lesions and dermatologic hallmarks associated with Fabry Disease (FD)? (iqanda-cme.com)
- What is the pathophysiology of the angiokeratomas and telangiectasias seen in FD, what is the typical distribution of these lesions-in male versus female patients-and with what other conditions might these be confused? (iqanda-cme.com)
- Several years later, typical skin lesions (angiokeratoma) appear, and progressive damage to the vital organ systems develops with age and leads to organ failure. (hindawi.com)
- Angiokeratomas are acquired vascular lesions that present as shiny, soft, dark red to violaceous, 2-10 mm papules which may develop a blue-violaceous to black color and a surface scale. (dermoscopedia.org)
- Angiokeratoma is a term for a range of capillary skin lesions. (dermalaska.com)
Circumscriptum naeviforme5
- 590 Verrucous vascular malformation (also known as "Angiokeratoma circumscriptum naeviforme") is a malformation of dermal and subcutaneous capillaries and veins, a congenital vascular malformation, which, over time, a verrucous component appears. (wikipedia.org)
- In addition, a rare manifestation of angiokeratoma circumscriptum naeviforme, with appearance on the neck, has been documented. (medscape.com)
- Angiokeratoma circumscriptum naeviforme (ACN) is a still rarer type of angiokeratoma, which is typically seen at birth. (cdlib.org)
- Angiokeratoma circumscriptum naeviforme (ACN) is a still rarer variant of angiokeratoma, classically present since birth [ 4 ]. (cdlib.org)
- Based on the clinical and histopathological features, a diagnosis of angiokeratoma circumscriptum naeviforme was made. (cdlib.org)
Variants of angiokeratomas1
- Amongst the several variants of angiokeratomas, angiokeratoma circumscriptum is the least common one. (cdlib.org)
Mibelli3
- blood vessels close to the epidermis Angiokeratoma (Mibelli type) Due to the rarity of different types of vascular conditions, angiokeratomas may be misdiagnosed. (wikipedia.org)
- citation needed] Angiokeratoma may be classified as: Angiokeratoma of Mibelli (also known as "Mibelli's angiokeratoma," "Telangiectatic warts") consists of 1- to 5-mm red vascular papules, the surfaces of which become hyperkeratotic in the course of time. (wikipedia.org)
- The first reported case dates back to 1889 when Doctor Vittorio Mibelli recorded what is now known as angiokeratoma Mibelli-type on the fingers and the toes. (medscape.com)
Solitary4
- Solitary angiokeratoma is a small, bluish-black, warty papule that occurs predominantly on the lower extremities. (wikipedia.org)
- Solitary angiokeratoma of the tongue" (PDF). (wikipedia.org)
- Solitary angiokeratoma appears as a single lesion, most commonly on the legs of the middle aged and elderly. (contourderm.com)
- Dermoscopy of solitary angiokeratomas: a morphological study. (dermoscopedia.org)
Angiomas2
- Noted by Imperial and Helwig in 1967, angiokeratomas are actually telangiectasias of already-existing vessels rather than angiomas. (medscape.com)
- The three most common types are cherry angiomas, spider angiomas, and angiokeratomas.Since the majority of angiomas are harmless, most people have them treated for cosmetic reasons. (dermalaska.com)
Diffuse1
- Clusters or diffuse angiokeratomas first appearing in young adults must alert physicians to a possible diagnosis of Fabry disease. (dermnetnz.org)
Blood vessels2
- Angiokeratomas characteristically have large dilated blood vessels in the superficial dermis and hyperkeratosis (overlying the dilated vessels). (wikipedia.org)
- Angiokeratomas are dilated blood vessels in the upper dermis , presenting as red or black papules. (dermnetnz.org)
Spots4
- [ 4 ] (found on the scrotum) and caviar spots (angiokeratomas of the tongue). (medscape.com)
- Fabry disease causes clusters of angiokeratomas (small, dark red spots on the skin) and many systemic symptoms due to the deposition of globotriaosylceramide (Gb3) in multiple organs. (dermnetnz.org)
- These symptoms include episodes of severe burning pain in the hands and feet called acroparasthesias, small red raised spots on the skin called angiokeratoma, a characteristic change in the cornea of the eye that does not affect vision (corneal whorling), gastrointestinal symptoms (diarrhea, bloating, and pain), and decreased sweating. (mountsinai.org)
- Angiokeratomas are small dark red to purple raised spots and come in several types. (nicklauschildrens.org)
Diagnosis3
- Its main differential diagnosis is angiokeratoma circumscriptum neviforme, with an almost indistinguishable clinical presentation because both diseases appear as erythematous patches that evolve to violaceous plaques, becoming scaly and even verrucous, most commonly affecting the lower limbs. (ufrgs.br)
- Histopathology is crucial for the correct diagnosis: while in angiokeratoma the vascular alterations are limited to the papillary dermis, verrucous hemangioma extends deep into the dermis, reaching the subcutaneous tissue. (ufrgs.br)
- What is the differential diagnosis of the angiokeratomas and telangiectasias that are characteristic of FD? (iqanda-cme.com)
Hyperkeratosis2
- Angiokeratoma is a benign cutaneous lesion of capillaries, resulting in small marks of red to blue color and characterized by hyperkeratosis. (wikipedia.org)
- Angiokeratomas are a group of vascular ectasias that involve the papillary dermis and may produce papillomatosis, acanthosis, and hyperkeratosis of the epidermis. (medscape.com)
Fabry Disease8
- Multiple angiokeratomas, especially on the trunk in young people, are typical for Fabry disease, genetic disorder connected with systemic complications. (wikipedia.org)
- Angiokeratomas in Fabry disease. (nih.gov)
- In Fabry disease, angiokeratomas are caused by the accumulation of Gb3 in the dermal endothelial cells, which leads to bulge and incompetence of the vessel walls [12]. (dermnetnz.org)
- Differentiate from angiokeratomas of Fabry disease (usually pinhead size, found on bathing trunk area and upper thighs), and Kaposi sarcoma. (mhmedical.com)
- Late-Onset Fabry disease manifests in adulthood and usually lacks the classic symptoms such as acroparasthesias and angiokeratomas, and mainly affects the kidney and the heart. (mountsinai.org)
- While angiokeratomas are typically benign, they can be a symptom of Fabry Disease , a rare and potentially life-threatening genetic disease that should receive immediate medical attention. (dermalaska.com)
- In some people living with Fabry disease , small reddish-purple rashes called angiokeratomas appear around the lower abdomen and "bathing trunk" region of the body . (osmosis.org)
- People with Fabry disease present with burning pain in the hands and feet, and reduced sweating, and angiokeratomas which appear as hard bumps on the skin. (osmosis.org)
Dermis1
- Angiokeratoma circumscriptum is a benign vessel ectasia involving the papillary dermis. (medscape.com)
Telangiectasias1
- Do the angiokeratomas and telangiectasias evolve, change distribution, or regress over time? (iqanda-cme.com)
Lesion1
- Doctor Johann Fabry first described angiokeratoma circumscriptum in 1915 as a localized lesion on a lower extremity or the trunk. (medscape.com)
Characteristic1
- When you encounter angiokeratomas that you think are characteristic of FD, what is your next step in the diagnostic process? (iqanda-cme.com)
Rarest2
- angiokeratoma circumscriptum is a specific type and is the rarest of the other types of angiokeratomas. (medscape.com)
- Angiokeratoma circumscriptum, the rarest variant [ 1 , 3 ], is clinically characterized by dark red to blue-black nodules or plaques that are typically situated unilaterally on the lower legs or feet. (cdlib.org)
Trunk1
- The accumulation of glycolipid causes noncancerous (benign) skin growths (angiokeratomas) to form on the lower part of the trunk. (msdmanuals.com)
Vessels1
- Interestingly, lymphangioma circumscriptum, an entity that is microscopically similar to angiokeratoma circumscriptum, has been reported to occur in a setting of damaged deep lymphatic vessels. (medscape.com)
Dermatologist1
- Contact your dermatologist if you are experiencing symptoms of angiokeratoma for evaluation and treatment. (contourderm.com)
Females1
- Angiokeratoma circumscriptum is a birthmark with a higher incidence in females and may change in appearance over time. (contourderm.com)
Types1
- Overall, eight types of angiokeratomas have been described in the literature. (medscape.com)