The yellowish discoloration of connective tissue due to deposition of HOMOGENTISIC ACID (a brown-black pigment). This is due to defects in the metabolism of PHENYLALANINE and TYROSINE. Ochronosis occurs in ALKAPTONURIA, but has also been associated with exposure to certain chemicals (e.g., PHENOL, trinitrophenol, BENZENE DERIVATIVES).
A mononuclear Fe(II)-dependent oxygenase, this enzyme catalyzes the conversion of homogentisate to 4-maleylacetoacetate, the third step in the pathway for the catabolism of TYROSINE. Deficiency in the enzyme causes ALKAPTONURIA, an autosomal recessive disorder, characterized by homogentisic aciduria, OCHRONOSIS and ARTHRITIS. This enzyme was formerly characterized as EC 1.13.1.5 and EC 1.99.2.5.
Homogentisic acid is an organic compound that is an intermediate metabolite in the catabolic pathway of tyrosine and phenylalanine, and its accumulation in the body can lead to a rare genetic disorder known as alkaptonuria.
Facial dermatoses refers to various skin conditions that affect the face, causing symptoms such as redness, inflammation, papules, pustules, scaling, or pigmentation changes, which can be caused by a range of factors including genetics, infections, allergies, and environmental factors.
Disorders of increased melanin pigmentation that develop without preceding inflammatory disease.
Excessive pigmentation of the skin, usually as a result of increased epidermal or dermal melanin pigmentation, hypermelanosis. Hyperpigmentation can be localized or generalized. The condition may arise from exposure to light, chemicals or other substances, or from a primary metabolic imbalance.
Drugs used to treat or prevent skin disorders or for the routine care of skin.
General disorders of the sclera or white of the eye. They may include anatomic, embryologic, degenerative, or pigmentation defects.
Hydroquinones are chemical compounds that function as potent depigmenting agents, inhibiting the enzymatic conversion of tyrosine to melanin, used topically in the treatment of various dermatological disorders such as melasma, freckles, and hyperpigmentation.
An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of PHENYLALANINE and TYROSINE. It is characterized by accumulation of HOMOGENTISIC ACID in the urine, OCHRONOSIS in various tissues, and ARTHRITIS.
Cartilage of the EAR AURICLE and the EXTERNAL EAR CANAL.
Resorcinols are aromatic organic compounds containing two hydroxyl groups attached to a benzene ring, known for their antiseptic and antibacterial properties, used in various medical and cosmetic applications.

Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene. (1/24)

AIMS: To assess the involvement of the recently identified human homogentisate 1,2-dioxygenase gene (HGO) in alkaptonuria (AKU) in two unrelated patients with ochronosis of the conjunctiva, sclera, and cornea. METHODS: A mutation screen of the entire coding region of the HGO gene was performed using single stranded conformational analysis after polymerase chain reaction with oligonucleotide primers flanking all 14 exons of the HGO gene. Fragments showing aberrant mobility were directly sequenced. RESULTS: Two homozygous missense mutations, L25P and M368V, were identified, each of which leads to the replacement of a highly conserved amino acid in the HGO protein. CONCLUSIONS: The authors describe a novel mutation, L25P, in the German population and bring to 18 the total number of known HGO mutations.  (+info)

Ochronotic arthropathy: case report and review of the literature. (2/24)

Alkoptonuria is an inherited metabolic disorder which is associated with various systemic abnormalities and related to the deposition of homogentisic acid pigment in connective tissues. These pigmentary changes are termed "ochronosis". We describe two patients with ochronotic arthropathy who presented with progressive and advanced degenerative changes in the lumbo-sacral spine. The literature, differential diagnosis and management of this rare condition are reviewed in this article. Management is usually conservative, but replacement surgery may be offered for severely affected major joints.  (+info)

Spontaneous tendon ruptures in alkaptonuria. (3/24)

Ochronosis, the musculoskeletal manifestation of alkaptonuria, is known to lead to degenerative changes of the spine and weight-bearing joints. Symptoms related to degeneration of tendons or ligaments with spontaneous ruptures have not previously been reported. Three patients are described with four spontaneous ruptures of either the patellar tendon or tendo Achillis as the first symptom of alkaptonuria.  (+info)

Cardiac ochronosis: valvular heart disease with dark green discoloration of the leaflets. (4/24)

We report the case of 67-year-old woman who underwent aortic valve replacement and mitral valve repair due to ochronotic valvular disease (alkaptonuria), which was diagnosed incidentally during cardiac surgery.  (+info)

Alkaptonuric ochronosis with aortic valve and joint replacements and femoral fracture: a case report and literature review. (5/24)

Alkaptonuria is a rare autosomal recessive disorder of metabolism caused by deficiency of homogentisic acid oxidase and resulting in accumulation of homogentisic acid in collagenous structures. It is characterized by homogentisic aciduria, bluish-black discoloration of connective tissues (ochronosis) and arthropathy of large joints. Less common manifestations include cardiovascular abnormalities, renal, urethral and prostate calculi. Bone fractures are unusual in ochronosis. In this report, we describe a woman, 69 years of age, with a history of dark urine since childhood and progressive pigmentation of the skin, sclera, and auricular cartilages. She had severe arthropathy requiring total joint replacement in both of her knees and right hip. She also had severe aortic stenosis requiring valve replacement, and asymptomatic nephrolithiasis. She presented with a low trauma fracture of the distal femur despite two years of alendroate therapy. We review the etiology, pathogenesis, clinical presentation, diagnosis and treatment of alkaptonuric ochronosis. Early detection is important for prevention and treatment of multiple systems. Nitisinone, a potent inhibitor of 4-hydroxyphenylpyruvate dioxygenase, dramatically reduces production and urinary excretion of homogentisic acid; however, the long-term efficacy and side effects of such therapy are unknown. Identifying the gene for alkaptonuria offers the potential for a new therapeutic approach (replacement therapy with a recombinant enzyme) in the treatment of alkaptonuric ochronosis.  (+info)

Aortic stenosis in cardiovascular ochronosis. (6/24)

Alkaptonuria (endogenous ochronosis) is a rare metabolic disorder caused by a deficiency of homogentisic acid oxidase, an enzyme responsible for the metabolic degradation of tyrosine. Patients with alkaptonuria commonly present with joint pain owing to degenerative arthritis. Other affected patients may present with pigmentation of the ear cartilage and sclera. This article reports a case of aortic stenosis associated with ochronosis in a 48-year-old man who presented with severe cardiac failure. He had no previous diagnosis of alkaptonuria, which was confirmed by mass spectrometry analysis of urine. The pathogenesis of cardiovascular ochronosis is unclear, but is probably related to the extensive extracellular deposits of ochronotic pigment in the cardiac tissue.  (+info)

Acute anterior uveitis as the initial presentation of alkaptonuria. (7/24)

Alkaptonuria is a rare autosomal recessive metabolic disorder that may present with multi-system involvement such as ochronotic arthropathy, renal, urethral and prostatic calculi, cardiac valvular lesions and pigmentation of the skin, sclera, cartilage and other connective tissues. An association of the disease with uveitis has never been reported. We report the first case of alkaptonuria with ochronotic arthropathy presenting with recurrent acute anterior uveitis as the initial manifestation. The possible common link with the HLA-B27 gene is discussed.  (+info)

Evaluation of anti-oxidant treatments in an in vitro model of alkaptonuric ochronosis. (8/24)

 (+info)

Ochronosis is a medical condition characterized by the accumulation of a dark pigment called homogentisic acid in various connective tissues, such as the skin, tendons, and cartilage. This accumulation results in a bluish-black or grayish discoloration of the affected tissues, which can lead to stiffness, pain, and limited mobility. Ochronosis is often associated with alkaptonuria, a rare inherited metabolic disorder that affects the breakdown of certain amino acids. However, it can also occur as a result of exposure to certain chemicals or medications.

Homogentisate 1,2-dioxygenase (HGD) is an enzyme that plays a crucial role in the catabolism of tyrosine, an aromatic amino acid. This enzyme is involved in the third step of the tyrosine degradation pathway, also known as the tyrosine breakdown or catabolic pathway.

The homogentisate 1,2-dioxygenase enzyme catalyzes the conversion of homogentisic acid (HGA) into maleylacetoacetic acid. This reaction involves the cleavage of the aromatic ring of HGA and the introduction of oxygen, hence the name 'dioxygenase.' The reaction can be summarized as follows:

Homogentisate + O2 → Maleylacetoacetate

Deficiency or dysfunction in homogentisate 1,2-dioxygenase leads to a rare genetic disorder called alkaptonuria. In this condition, the body cannot break down tyrosine properly, resulting in an accumulation of HGA and its oxidation product, alkapton, which can cause damage to connective tissues and joints over time.

Homogentisic acid is not a medical condition, but rather an organic compound that plays a role in certain metabolic processes. It is a breakdown product of the amino acid tyrosine, and is normally further metabolized by the enzyme homogentisate 1,2-dioxygenase.

In some individuals, a genetic mutation can result in a deficiency of this enzyme, leading to a condition called alkaptonuria. In alkaptonuria, homogentisic acid accumulates in the body and can cause damage to connective tissues, joints, and other organs over time. Symptoms may include dark urine, arthritis, and pigmentation of the ears and eyes. However, it is important to note that alkaptonuria is a rare condition, affecting only about 1 in 250,000 people worldwide.

Facial dermatoses refer to various skin conditions that affect the face. These can include a wide range of disorders, such as:

1. Acne vulgaris: A common skin condition characterized by the formation of comedones (blackheads and whiteheads) and inflammatory papules, pustules, and nodules. It primarily affects the face, neck, chest, and back.
2. Rosacea: A chronic skin condition that causes redness, flushing, and visible blood vessels on the face, along with bumps or pimples and sometimes eye irritation.
3. Seborrheic dermatitis: A common inflammatory skin disorder that causes a red, itchy, and flaky rash, often on the scalp, face, and eyebrows. It can also affect other oily areas of the body, like the sides of the nose and behind the ears.
4. Atopic dermatitis (eczema): A chronic inflammatory skin condition that causes red, itchy, and scaly patches on the skin. While it can occur anywhere on the body, it frequently affects the face, especially in infants and young children.
5. Psoriasis: An autoimmune disorder that results in thick, scaly, silvery, or red patches on the skin. It can affect any part of the body, including the face.
6. Contact dermatitis: A skin reaction caused by direct contact with an allergen or irritant, resulting in redness, itching, and inflammation. The face can be affected when allergens or irritants come into contact with the skin through cosmetics, skincare products, or other substances.
7. Lupus erythematosus: An autoimmune disorder that can cause a butterfly-shaped rash on the cheeks and nose, along with other symptoms like joint pain, fatigue, and photosensitivity.
8. Perioral dermatitis: A inflammatory skin condition that causes redness, small bumps, and dryness around the mouth, often mistaken for acne. It can also affect the skin around the nose and eyes.
9. Vitiligo: An autoimmune disorder that results in the loss of pigmentation in patches of skin, which can occur on the face and other parts of the body.
10. Tinea faciei: A fungal infection that affects the facial skin, causing red, scaly, or itchy patches. It is also known as ringworm of the face.

These are just a few examples of skin conditions that can affect the face. If you experience any unusual symptoms or changes in your skin, it's essential to consult a dermatologist for proper diagnosis and treatment.

Melanosis is a general term that refers to an increased deposit of melanin, the pigment responsible for coloring our skin, in the skin or other organs. It can occur in response to various factors such as sun exposure, aging, or certain medical conditions. There are several types of melanosis, including:

1. Epidermal melanosis: This type of melanosis is characterized by an increase in melanin within the epidermis, the outermost layer of the skin. It can result from sun exposure, hormonal changes, or inflammation.
2. Dermal melanosis: In this type of melanosis, there is an accumulation of melanin within the dermis, the middle layer of the skin. It can be caused by various conditions such as nevus of Ota, nevus of Ito, or melanoma metastasis.
3. Mucosal melanosis: This type of melanosis involves an increase in melanin within the mucous membranes, such as those lining the mouth, nose, and genitals. It can be a sign of systemic disorders like Addison's disease or Peutz-Jeghers syndrome.
4. Lentigo simplex: Also known as simple lentigines, these are small, benign spots that appear on sun-exposed skin. They result from an increase in melanocytes, the cells responsible for producing melanin.
5. Labial melanotic macule: This is a pigmented lesion found on the lips, typically the lower lip. It is more common in darker-skinned individuals and is usually benign but should be monitored for changes that may indicate malignancy.
6. Ocular melanosis: An increase in melanin within the eye can lead to various conditions such as ocular melanocytosis, oculodermal melanocytosis, or choroidal melanoma.

It is important to note that while some forms of melanosis are benign and harmless, others may indicate an underlying medical condition or even malignancy. Therefore, any new or changing pigmented lesions should be evaluated by a healthcare professional.

Hyperpigmentation is a medical term that refers to the darkening of skin areas due to an increase in melanin, the pigment that provides color to our skin. This condition can affect people of all races and ethnicities, but it's more noticeable in those with lighter skin tones.

Hyperpigmentation can be caused by various factors, including excessive sun exposure, hormonal changes (such as during pregnancy), inflammation, certain medications, and underlying medical conditions like Addison's disease or hemochromatosis. It can also result from skin injuries, such as cuts, burns, or acne, which leave dark spots known as post-inflammatory hyperpigmentation.

There are several types of hyperpigmentation, including:

1. Melasma: This is a common form of hyperpigmentation that typically appears as symmetrical, blotchy patches on the face, particularly the forehead, cheeks, and upper lip. It's often triggered by hormonal changes, such as those experienced during pregnancy or while taking birth control pills.
2. Solar lentigos (age spots or liver spots): These are small, darkened areas of skin that appear due to prolonged sun exposure over time. They typically occur on the face, hands, arms, and decolletage.
3. Post-inflammatory hyperpigmentation: This type of hyperpigmentation occurs when an injury or inflammation heals, leaving behind a darkened area of skin. It's more common in people with darker skin tones.

Treatment for hyperpigmentation depends on the underlying cause and may include topical creams, chemical peels, laser therapy, or microdermabrasion. Preventing further sun damage is crucial to managing hyperpigmentation, so wearing sunscreen with a high SPF and protective clothing is recommended.

Dermatologic agents are medications, chemicals, or other substances that are applied to the skin (dermis) for therapeutic or cosmetic purposes. They can be used to treat various skin conditions such as acne, eczema, psoriasis, fungal infections, and wounds. Dermatologic agents include topical corticosteroids, antibiotics, antifungals, retinoids, benzoyl peroxide, salicylic acid, and many others. They can come in various forms such as creams, ointments, gels, lotions, solutions, and patches. It is important to follow the instructions for use carefully to ensure safety and effectiveness.

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.

Hydroquinones are a type of chemical compound that belong to the group of phenols. In a medical context, hydroquinones are often used as topical agents for skin lightening and the treatment of hyperpigmentation disorders such as melasma, age spots, and freckles. They work by inhibiting the enzyme tyrosinase, which is necessary for the production of melanin, the pigment that gives skin its color.

It's important to note that hydroquinones can have side effects, including skin irritation, redness, and contact dermatitis. Prolonged use or high concentrations may also cause ochronosis, a condition characterized by blue-black discoloration of the skin. Therefore, they should be used under the supervision of a healthcare provider and for limited periods of time.

Alkaptonuria is a rare inherited metabolic disorder characterized by the accumulation of homogentisic acid in various tissues and body fluids due to a deficiency in the enzyme homogentisate 1,2-dioxygenase. This enzyme deficiency leads to an inability to break down tyrosine and phenylalanine amino acids properly, causing their byproduct, homogentisic acid, to build up in the body.

The accumulation of homogentisic acid can result in several clinical manifestations:

1. Dark urine: Homogentisic acid oxidizes and turns dark brown or black when exposed to air, giving the condition its name "alkaptonuria," derived from Greek words 'alos' (meaning 'strange') and 'kapto' (meaning 'I become black').
2. Arthritis: Over time, homogentisic acid deposits in connective tissues, particularly cartilage, causing damage and leading to a form of arthritis called ochronosis. This can result in stiffness, pain, and limited mobility in affected joints.
3. Heart problems: Homogentisic acid accumulation in heart valves may lead to thickening and calcification, potentially resulting in heart disease and valve dysfunction.
4. Kidney stones: The accumulation of homogentisic acid can form kidney stones, which can cause pain and potential kidney damage if they become lodged in the urinary tract.

There is no cure for alkaptonuria; however, treatment aims to manage symptoms and slow disease progression. A low-protein diet may help reduce tyrosine and phenylalanine intake, while increased hydration can help prevent kidney stone formation. Nitisinone, a medication that inhibits the production of homogentisic acid, has shown promise in managing alkaptonuria symptoms. Regular monitoring and early intervention are crucial to minimize complications associated with this rare condition.

Ear cartilage, also known as auricular cartilage, refers to the flexible connective tissue that makes up the structural framework of the external ear or pinna. The ear cartilage provides support and shape to the ear, helping to direct sound waves into the ear canal and towards the eardrum.

The ear cartilage is composed of type II collagen fibers and proteoglycans, which give it its flexibility and resiliency. It is covered by a thin layer of skin on both sides and contains no bones. Instead, the ear cartilage is shaped and maintained by the surrounding muscles and connective tissue.

There are three main parts of the ear cartilage: the helix, the antihelix, and the tragus. The helix is the outer rim of the ear, while the antihelix is the curved ridge that runs parallel to the helix. The tragus is the small piece of cartilage that projects from the front of the ear canal.

Ear cartilage can be affected by various conditions, including trauma, infection, and degenerative changes associated with aging. In some cases, surgical procedures may be required to reshape or reconstruct damaged ear cartilage.

Resorcinols are a type of chemical compound that contain a resorcinol moiety, which is made up of a benzene ring with two hydroxyl groups in the ortho position. In medicine, resorcinol and its derivatives have been used for various purposes, including as antiseptics, antibacterials, and intermediates in the synthesis of other pharmaceuticals.

Resorcinol itself has some medicinal properties, such as being able to reduce pain and inflammation, and it has been used topically to treat conditions like eczema, psoriasis, and acne. However, resorcinol can also be toxic in large amounts, so it must be used with caution.

It's important to note that while resorcinol is a chemical compound, the term "resorcinols" may also refer to a group of related compounds that contain the resorcinol moiety. These compounds can have different medicinal properties and uses depending on their specific structure and function.

... Clinics in Dermatology 1989;7:28-35 Charlín, R., Barcaui, C. B., Kac, B. K., Soares, D. B., Rabello-Fonseca, R. and ... Exogenous ochronosis can be caused from long-term use of certain "skin-lightening" products, even if the hydroquinone is in ... Ochronosis is a syndrome caused by the accumulation of homogentisic acid in connective tissues. The condition was named after ... Ochronosis occurs because of deposition of phenols (such as homogentisic acid and hydroquinone) as plaques in the matrix of ...
Virchow was the first to describe and name diseases such as leukemia, chordoma, ochronosis, embolism, and thrombosis. He coined ... Wilke, Andreas; Steverding, Dietmar (2009). "Ochronosis as an unusual cause of valvular defect: a case report". Journal of ... Virchow discovered the clinical syndrome which he called ochronosis, a metabolic disorder in which a patient accumulates ... Virchow, RL (1966) [1866]. "Rudolph Virchow on ochronosis.1866". Arthritis and Rheumatism. 9 (1): 66-71. doi:10.1002/art. ...
He linked ochronosis with the accumulation of alkaptans in 1902, and his views on the subject, including its mode of heritance ... This process is called ochronosis (as the tissue looks ochre); ochronotic tissue is stiffened and unusually brittle, impairing ... This has included studies on the use of nitisinone and investigations into antioxidants to inhibit ochronosis. The ideal ... The accumulating homogentisic acid causes damage to cartilage (ochronosis, leading to osteoarthritis) and heart valves, as well ...
Pratibha, K.; Seenappa, T.; Ranganath, K. (2007). "Alkaptonuric ochronosis: Report of a case and brief review" (PDF). Indian ...
Ochronosis can subsequently lead to lesions and squamous cell carcinomas. While hydroquinone has not been officially classified ... Pascal del Giudice and Pinier Yves indicated that hydroquinone usage is strongly correlated with the development of ochronosis ...
Alkaptonuria Inborn error of metabolism Ochronosis Shaw K, Bachur R (2016). Fleisher & Ludwig's Textbook of Pediatric Emergency ...
Clinical trials are ongoing to test whether nitisinone can prevent ochronosis experienced by older alkaptonuria patients.[ ...
... while ochronosis results in calcific deposits in the symphysis. Inflammatory diseases, such as ankylosing spondylitis, result ...
... or hydroquinone-induced exogenous ochronosis (see ochronosis treatment). Assessment by a dermatologist can help guide treatment ... ochronosis (endogenous and exogenous), and cutaneous erythematosus lupus. Additionally, it should not be confused with ...
Numerous studies have revealed that hydroquinone, if taken orally, can cause exogenous ochronosis, a disfiguring disease in ...
Ochronosis Osteoma cutis Palmar xanthoma Phenylketonuria Phytosterolemia (sitosterolemia) Porphyria cutanea tarda Primary ...
... wood OCD Ochoa syndrome Ochronosis, hereditary Ochronosis Ockelbo disease Ocular albinism Ocular coloboma-imperforate anus ...
... as hydroquinone has been linked to ochronosis, where skin becomes permanently discoloured and disfigured, and because it may ...
... pseudepigrapha perduellion fourrier lanugo propylaeum cointise videlicet passus jacana ooporphyrin Malmaison cento ochronosis ...
... deficiency 270.2 Other disturbances of aromatic amino-acid metabolism Albinism Alkaptonuria Hypertyrosinemia Ochronosis ...
... and improper application of high-dose hydroquinone has been associated with a systemic condition known as exogenous ochronosis ...
... especially when caused by hyperparathyroidism Arthritis Pseudogout Wilson disease Hemochromatosis Ochronosis Hypophosphatasia ...
Ochronosis. Clinics in Dermatology 1989;7:28-35 Charlín, R., Barcaui, C. B., Kac, B. K., Soares, D. B., Rabello-Fonseca, R. and ... Exogenous ochronosis can be caused from long-term use of certain "skin-lightening" products, even if the hydroquinone is in ... Ochronosis is a syndrome caused by the accumulation of homogentisic acid in connective tissues. The condition was named after ... Ochronosis occurs because of deposition of phenols (such as homogentisic acid and hydroquinone) as plaques in the matrix of ...
Additionally, ochronosis can occasionally occur from exposure to various substances such as phenol, trinitrophenol, resorcinol ... Ochronosis is the bluish black discoloration of certain tissues, such as the ear cartilage and the ocular tissue, seen with ... encoded search term (Ochronosis and Alkaptonuria) and Ochronosis and Alkaptonuria What to Read Next on Medscape ... called ochronosis. Exogenous ochronosis can occasionally occur from exposure to various substances such as phenol, ...
Endogenous ochronosis (EO) or alkaptonuria is an inherited autosomal recessive disease caused by the insufficiency of the ... Endogenous ochronosis (EO) or alkaptonuria is an inherited autosomal recessive disease caused by the insufficiency of the ...
Additionally, ochronosis can occasionally occur from exposure to various substances such as phenol, trinitrophenol, resorcinol ... Ochronosis is the bluish black discoloration of certain tissues, such as the ear cartilage and the ocular tissue, seen with ... encoded search term (Ochronosis and Alkaptonuria) and Ochronosis and Alkaptonuria What to Read Next on Medscape ... called ochronosis. Exogenous ochronosis can occasionally occur from exposure to various substances such as phenol, ...
Ochronosis and calcification in the mediastinal mass of a patient with alkaptonuria ... Ochronosis and calcification in the mediastinal mass of a patient with alkaptonuria ... suggesting that factors other than the presence of HGA in the tissues may favour or promote ochronosis.2 3 Ochronotic pigment ...
Ochre swollen homogenized collagen bundles resembling ochronosis have not been previously described.. OBJECTIVE: The purpose of ... Localized argyria with pseudo-ochronosis.. Leslie Robinson-Bostom, David Pomerantz, Caroline Wilkel, Russell Mader, Lisa Lerner ... CONCLUSION: The histologic features of localized argyria include swollen and homogenized collagen bundles resembling ochronosis ... this study is to report a series of 5 patients with localized argyria with the histologic feature of "pseudo-ochronosis." In ...
Additionally, ochronosis can occasionally occur from exposure to various substances such as phenol, trinitrophenol, resorcinol ... Ochronosis is the bluish black discoloration of certain tissues, such as the ear cartilage and the ocular tissue, seen with ... encoded search term (Ochronosis) and Ochronosis What to Read Next on Medscape ... Treatment of exogenous ochronosis with a Q-switched alexandrite (755 nm) laser. Dermatol Surg. 2004 Apr. 30(4 Pt 1):555-8. [ ...
Additionally, ochronosis can occasionally occur from exposure to various substances such as phenol, trinitrophenol, resorcinol ... Ochronosis is the bluish black discoloration of certain tissues, such as the ear cartilage and the ocular tissue, seen with ... encoded search term (Ochronosis) and Ochronosis What to Read Next on Medscape ... Ochronosis is the bluish black discoloration of certain tissues, such as the ear cartilage and the ocular tissue, seen with ...
Ochronosis and Aortic Stenosis. Alkaptonuria (endogenous ochronosis) is a rare metabolic disorder caused by a deficiency of ... Radiation and ochronosis are rare causes of acquired aortic stenosis.. Congenital aortic stenosis is classified as valvular, ... Butany JW, Naseemuddin A, Moshkowitz Y, Nair V. Ochronosis and aortic valve stenosis. J Card Surg. 2006 Mar-Apr. 21(2):182-4. [ ... Aortic stenosis caused by ochronosis. There are calcifiied nodules, in addition to black pigment. View Media Gallery ...
Exogenous ochronosis. / Ko, Wei Li; Wang, Kuo Hsien. 於: Dermatologica Sinica, 卷 33, 編號 1, 01.03.2015, p. 29-30.. 研究成果: 雜誌貢獻 › 文 ... Exogenous ochronosis. Dermatologica Sinica. 2015 3月 1;33(1):29-30. doi: 10.1016/j.dsi.2014.04.002 ... Exogenous ochronosis. 於: Dermatologica Sinica. 2015 ; 卷 33, 編號 1. 頁 29-30. ... Ko, WL & Wang, KH 2015, Exogenous ochronosis, Dermatologica Sinica, 卷 33, 編號 1, 頁 29-30. https://doi.org/10.1016/j.dsi. ...
Copyright 2022 EUROFINS Genoma Group Srl a socio unico - All rights reserved - P.Iva 05402921000. ...
Ochronosis. Ochronosis is another skin condition that creates an uneven skin tone. It is usually apparent on the face. ... Ochronosis occurs when the homogentisic acid builds up inside connective tissue. The result is a blue/black hyperpigmented skin ... Hydroquinone can work well for Ochronosis in the same way it works for Melasma. You can lessen the condition with regular ...
... ochronosis; tremor, convulsions, twitching ...
Ochronosis / Alkaptonuria. ...recommendation Surgery "Arthroplasty of the hip and knee is often necessary." ...
Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder ... Endogenous ochronosis (alkaptonuria). Arch Dermatol. 2000 Apr;136(4):548-9, 551-2. doi: 10.1001/archderm.136.4.547-b. No ... Mannoni A, Selvi E, Lorenzini S, Giorgi M, Airo P, Cammelli D, Andreotti L, Marcolongo R, Porfirio B. Alkaptonuria, ochronosis ...
Osteoporosis, a chronic, progressive disease of multifactorial etiology (see Etiology), is the most common metabolic bone disease in the United States. It has been most frequently recognized in elderly white women, although it does occur in both sexes, all races, and all age groups.
exogenous ochronosis, which refers to blue-black pigmentation that occurs as a result of long-term. use of skin lightening ... 2015). Exogenous ochronosis [Abstract]. https://pubmed.ncbi.nlm.nih.gov/26677264/. *. Board-certified dermatologist warns ...
Ochronosis, Intervertebral discs Calcification. ZB.jpg 1,216 × 1,499; 106 KB. * Sobo 1909 174.png 1,124 × 672; 2.17 MB. ...
ochronosis (o-kron-o′sis). A rare, autosomal recessive disease characterized by alkapton uria with pigmentation of the ... Relating to or characterized by ochronosis. Ochsner. Albert John, U.S. surgeon, 1858-1925. See O. clamp, O. method. ocrylate ( ...
We present a unique, clinically asymptomatic case of ochronosis, first diagnosed on histopathological examination. This case is ...
New developments in ochronosis: review of the literature. Keller JM, Macaulay W, Nercessian OA, Jaffe IA. Keller JM, et al. ...
ochronosis + Orofacial Granulomatosis Pathological Protein Aggregation pigmentation disease + Polydipsia + Postoperative ...
ochronosis + Orofacial Granulomatosis Pathological Protein Aggregation pigmentation disease + Polydipsia + Postoperative ...
CY Levin H Maibach (2001) ArticleTitleExogenous ochronosis. An update on clinical features, causative agents and treatment ...
The Distribution of Ochronosis in Osteoarthritic Articular Cartilage in a Knee. Vincent W. Vigorita, Paul D. Marino, BA, Paul A ...
Some of the serious effects include blistering, cracking of the skin and ochronosis (bluish black pigmentation on the skin). ...
Dermoscopic and in vivo reflectance confocal microscopic features of endogenous ochronosis. Fatmagul Dirican Ulusoy, Banu Yaman ...
Not only is it dangerous, it is also responsible for ochronosis, which may cause skin to darken. ...
In some very serious cases, Hydroquinone can cause something called exogenous ochronosis, i.e. permanent hyperpigmentation. ... though it must be noted that exogenous ochronosis has been reported in patients using lower doses (under 3%) as well. As ...
  • Ochronosis is the bluish-black discoloration of certain tissues, such as the ear cartilage and the ocular tissue, seen with alkaptonuria , a metabolic disorder. (medscape.com)
  • Alkaptonuria is a rare genetic disorder in which there is a deficiency of the enzyme homogentisic acid oxidase, resulting in the accumulation of homogentisic acid and a characteristic blue-black discoloration of the skin and cartilage, called ochronosis. (medscape.com)
  • Ochronosis was defined by Virchow who histologically described the connective tissue in alkaptonuria, given the cartilage's ochre, or yellow, hue under the microscope. (medscape.com)
  • Endogenous ochronosis (EO) or alkaptonuria is an inherited autosomal recessive disease caused by the insufficiency of the enzyme homogentisic acid dioxygenase. (cdlib.org)
  • At the present state of knowledge, no medical therapy for ochronosis and alkaptonuria is available. (medscape.com)
  • Felbor U, Mutsch Y, Grehn F, Müller CR, Kress W. Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene. (medscape.com)
  • The two types of ochronosis are endogenous and exogenous. (wikipedia.org)
  • Exogenous ochronosis is an avoidable dermatitis that can be caused by the topical application of compounds such as hydroquinone or phenols. (wikipedia.org)
  • Hydroquinone-induced exogenous ochronosis was found in 1975 by Findlay, who observed the condition in patients who used skin lightening creams containing the compound. (wikipedia.org)
  • The three clinical stages of exogenous ochronosis are: Erythema and mild hyperpigmentation Hyperpigmentation and "caviar-like" lesions Papulonodular lesions Skin: The pigment is deposited throughout the skin, but only becomes apparent in certain locations, where the concentration is great enough to be seen clinically. (wikipedia.org)
  • In exogenous ochronosis, the hyperpigmentation is localized to the area where the inciting agent is applied. (wikipedia.org)
  • Symptoms of exogenous ochronosis include: Yellow-brown, banana-shaped fibers Caviar-like papules Brown-grey or blue-black hyperpigmentation Most of the lesions are seen on areas of the body that get the most sun. (wikipedia.org)
  • Dermoscopy has proved useful in exogenous ochronosis. (medscape.com)
  • With exogenous cutaneous ochronosis induced by topical hydroquinones, carbon dioxide lasers and dermabrasion have been reported to be helpful. (medscape.com)
  • Bruce S, Tschen JA, Chow D. Exogenous ochronosis resulting from quinine injections. (medscape.com)
  • Bongiorno MR, Aricò M. Exogenous ochronosis and striae atrophicae following the use of bleaching creams. (medscape.com)
  • Exogenous ochronosis and pigmented colloid milium from hydroquinone bleaching creams. (medscape.com)
  • Zawar VP, Mhaskar ST. Exogenous ochronosis following hydroquinone for melasma. (medscape.com)
  • Charlin R, Barcaui CB, Kac BK, Soares DB, Rabello-Fonseca R, Azulay-Abulafia L. Hydroquinone-induced exogenous ochronosis: a report of four cases and usefulness of dermoscopy. (medscape.com)
  • Exogenous ochronosis, in which bluish black pigmentation of cartilage is noted iatrogenically by exogenous agents, has been seen after exposure to noxious substances, including phenol, trinitrophenol, benzene, and hydroquinone. (medscape.com)
  • Exogenous Ochronosis is a black mark and patch due to discoloration of the connective tissue. (ioraclinic.com)
  • Unfortunately, for some people, this substance lead to a new condition, namely exogenous ochronosis. (ioraclinic.com)
  • Some of the serious effects include blistering, cracking of the skin and ochronosis (bluish black pigmentation on the skin). (medindia.net)
  • Hydroquinone can work well for Ochronosis in the same way it works for Melasma. (ncddr.org)
  • Looks similar to melasma, in ochronosis generally appears the dark brown spots like small coffee beans. (ioraclinic.com)
  • Ochronosis occurs because of deposition of phenols (such as homogentisic acid and hydroquinone) as plaques in the matrix of cartilage. (wikipedia.org)
  • In April, the FDA issued warning letters to 12 companies that sold hydroquinone in concentrations not generally recognized as safe and effective, because of other concerns including rashes, facial swelling, and ochronosis (skin discoloration). (medscape.com)
  • Other than hormones and sun exposure, the use of cosmetics consists of specific ingredients such as hydroquinone, mercury, and others could lead to ochronosis in some people. (ioraclinic.com)
  • Ochronosis usually caused by exposure to or use of substances and ingredients in a cosmetic product containing phenol, trinitrophenol, resorcinol, mercury (mercury), picric acid benzene, and hydeoquinone (hydroquinone). (ioraclinic.com)
  • Ochronosis is a syndrome caused by the accumulation of homogentisic acid in connective tissues. (wikipedia.org)
  • Ochronosis occurs when the homogentisic acid builds up inside connective tissue. (ncddr.org)
  • Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder. (medlineplus.gov)
  • Deposition also occurs at non-collagenous sites, suggesting that factors other than the presence of HGA in the tissues may favour or promote ochronosis. (bmj.com)
  • Ochronosis is another skin condition that creates an uneven skin tone . (ncddr.org)
  • Not only is it dangerous, it is also responsible for ochronosis, which may cause skin to darken. (xtend-life.com)
  • Chemical skin whiteners can be tough on your skin, making it dry and possibly resulting in more serious skin conditions, such as ochronosis (when the skin becomes darker). (fairandflawlessskin.com)
  • It also has been linked with ochronosis, a medical condition in humans known as skin darkening and disfiguration, when it is applied topically. (dermatologytimes.com)
  • Koçyigit H, Gürgan A, Terzioglu R, Gürgan U. Clinical, radiographic and echocardiographic findings in a patient with ochronosis. (medscape.com)
  • Bhangle S, Panush RS, Berman E, Schumacher HR. Clinical images: Synovial fluid clues to ochronosis. (medscape.com)
  • Cartilage: Darkening and hardening of ear cartilage is a prominent feature of ochronosis. (wikipedia.org)
  • Due to concerns about its side effects, it was almost banned by the FDA in 2006, as medical issues of carcinogenicity and reports of disfiguring ochronosis existed. (wikipedia.org)
  • The other dreaded side effect is ochronosis, and that has not happened (in my practice) with even low amounts. (dermatologytimes.com)
  • Please submit any comments about the article Ochronosis The StatPearls content team will be working hard to evaluate the comment and make corrections when appropriate. (statpearls.com)
  • The histologic features of localized argyria include swollen and homogenized collagen bundles resembling ochronosis, "pseudo-ochronosis," which may be more common than previously recognized. (qxmd.com)
  • The purpose of this study is to report a series of 5 patients with localized argyria with the histologic feature of "pseudo-ochronosis. (qxmd.com)
  • Ochronosis causes a blue-black pigmentation and caviar-like spots to develop on the skin. (medicalnewstoday.com)
  • Some of the serious effects include blistering, cracking of the skin and ochronosis (bluish black pigmentation on the skin). (medindia.net)
  • Alkaptonuric ochronosis with aortic valve and joint replacements and femoral fracture: a case report and literature review. (nih.gov)
  • Evaluation of anti-oxidant treatments in an in vitro model of alkaptonuric ochronosis. (qxmd.com)
  • Our model allows the opening of new anti-oxidant therapeutic strategies to treat alkaptonuric ochronosis. (qxmd.com)
  • We therefore aim to evaluate the frequency and clinical significance of ocular findings in ochronosis and discuss possible therapeutic options. (medscape.com)
  • Rohrbach JM, Röck D. Ocular Ochronosis. (medscape.com)
  • Cutaneous and ocular ochronosis followed the prolonged, high-dose supplementation of EGCG in this patient. (jcadonline.com)
  • Lindner M, Bertelmann T. On the ocular findings in ochronosis: a systematic review of literature. (medscape.com)
  • Ochronosis is a syndrome caused by the accumulation of homogentisic acid in connective tissues. (wikipedia.org)
  • Ochronosis occurs because of deposition of phenols (such as homogentisic acid and hydroquinone) as plaques in the matrix of cartilage. (wikipedia.org)
  • Ochronosis is the result of an autosomal recessive inherited disorder that causes the affected patient to be deficient in the enzyme homogentisic acid oxidase. (pediagenosis.com)
  • This leads to the accumulation of homogentisic acid (HGA) and its oxidized/polymerized products in connective tissues, which in turn become characterized by the presence of melanin-like pigments (ochronosis). (qxmd.com)
  • Other endogenous pigmentary disorders are attributable to metabolic substances (eg, hemosiderin [iron]) in purpuric processes, to homogentisic acid in ochronosis, and bile pigments. (mhmedical.com)
  • Diagnostic utility of dermatoscopy in hydroquinone induced ochronosis. (medscape.com)
  • Both the clinical presentation and histopathology appearance are superimposable with endogenous ochronosis or alcaptonuria, a hereditary disease in which ochronotic pigment deposition occurs at a multisystemic level. (cdlib.org)
  • Hydroquinone may cause unwanted and untreatable skin discoloration ( ochronosis ). (sisterhoodagenda.com)
  • Symptoms of this disease include ochronosis, eye sclera discoloration, tendonitis, and long-standing conditions leading to arthritis. (abnewswire.com)
  • Georgiadou N, Singh S, Wagner B, Goggin P, Katsarma E, Singh M. Occupational Localized Cutaneous Argyria With Pseudo-Ochronosis in a Jeweler. (medscape.com)
  • Severe osteoarthritic manifestations of ochronosis]. (nih.gov)
  • The findings on skin biopsy are pathognomonic for ochronosis. (pediagenosis.com)
  • Due to concerns about its side effects, it was almost banned by the FDA in 2006, as medical issues of carcinogenicity and reports of disfiguring ochronosis existed. (wikipedia.org)
  • Ochronosis" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (childrensmercy.org)
  • The RMA has defined a depositional joint disease as gout , pseudogout , haemochromatosis , Wilson's disease or ochronosis . (dva.gov.au)
  • Recent anecdotal evidence of macroscopic renal ochronosis in a mouse model of tyrosinaemia led us to perform histological analysis of tissues of these mice that are known to be affected in human AKU. (elsevierpure.com)
  • months showed no sign of macroscopic ochronosis of tissues. (elsevierpure.com)
  • Conclusions: Here we present the first data showing ochronosis of tissues in a murine model of AKU. (elsevierpure.com)
  • AbdulKarim FAJ, Ibrahim SM, Hill AA, Ajmal N. Bilateral Breast Ochronosis: a Case Report. (medscape.com)
  • Ochronosis and Osteoporosis: A Case Report. (nih.gov)