Alkaptonuric ochronosis

A buildup of dark pigment (ochronosis) in connective tissues such as cartilage,skin, or eyes due to alkaptonuria (OMIM: 203500 ). It usually occurs after age 30 and individuals may also develop arthritis in the spine and large joints in early adulthood. Other features can include heart problems, kidney stones, and prostate stones.

Also Known As:

Networked: 87 relevant articles (2 outcomes, 3 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Melanosis (Freckles)
2.	Atrophy
3.	Hyperpigmentation
4.	Alkaptonuria
5.	Contact Dermatitis (Eczema, Contact)

Experts

1.	Bernardini, Giulia: 2 articles (12/2011 - 10/2010)
2.	Braconi, Daniela: 2 articles (12/2011 - 10/2010)
3.	Laschi, Marcella: 2 articles (12/2011 - 10/2010)
4.	Millucci, Lia: 2 articles (12/2011 - 10/2010)
5.	Santucci, Annalisa: 2 articles (12/2011 - 10/2010)
6.	Spreafico, Adriano: 2 articles (12/2011 - 10/2010)
7.	Charoo, Naseem Ahmad: 1 article (10/2022)
8.	Ishack, Stephanie: 1 article (06/2022)
9.	Lipner, Shari R: 1 article (06/2022)
10.	Del Sel, Hernan: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Alkaptonuric ochronosis:

1.	hydroquinone (Esoterica)FDA Link 11/01/2007 - "Finally, a literature review of exogenous ochronosis and clinical studies employing hydroquinone (involving over 10,000 exposures under careful clinical supervision) reveal an incidence of exogenous ochronosis in the United States of 22 cases in more than 50 years. " 06/01/2022 - "Exogenous ochronosis is a potential side effect associated with hydroquinone, and treatment is often unsatisfactory. " 06/01/2022 - "Exogenous ochronosis associated with hydroquinone: a systematic review." 09/02/2020 - "Exogenous ochronosis (EO) typically affects the face and was reported in patients with dark skin such as Black South Africans or Hispanics who use skin-lightening products containing hydroquinone for extended periods. " 08/01/2020 - "Exogenous ochronosis (EO) is a deposition disease associated with application of hydroquinone-containing preparations. "
2.	Adrenal Cortex Hormones (Corticosteroids)IBA 01/01/1994 - "Over a period of 1 year, 74 complications were observed including acne (n = 25), infectious dermatoses modified by the application of local corticosteroids, and in particular dermatophytosis (n = 15), dyschromia (n = 11, including 3 cases of exogenous ochronosis), contact eczema, papular annular lesions and vibices. " 01/01/2016 - "However, traditional depigmenting agents such as HQ and corticosteroids, although highly effective, can raise safety concerns including exogenous ochronosis, atrophy, carcinogenesis and local and systemic untoward effects with long term use. " 04/01/2008 - "Some of these complications are exogenous ochronosis, impaired wound healing and wound dehiscence, the fish odor syndrome, nephropathy, steroid addiction syndrome, predisposition to infections, a broad spectrum of cutaneous and endocrinologic complications of corticosteroids, including suppression of hypothalamic-pituitary-adrenal axis. " 05/01/2019 - "Combination therapy of topical retinoids, corticosteroids, and hydroquinone has been effective in treating melasma, but long-term use is limited by corticosteroid atrophy and exogenous ochronosis. "
3.	RetinoidsIBA 05/01/2019 - "Combination therapy of topical retinoids, corticosteroids, and hydroquinone has been effective in treating melasma, but long-term use is limited by corticosteroid atrophy and exogenous ochronosis. "
4.	Homogentisate 1,2-Dioxygenase (Homogentisate 1,2 Dioxygenase)IBA 04/01/2008 - "Alkaptonuric ochronosis, caused by a deficiency of homogentisate 1,2-dioxygenase, is a rare, autosomal recessive, metabolic disorder. " 11/01/2018 - "Ochronotic arthropathy is present in patients with alkaptonuric ochronosis, which is characterized by dark pigmentation of connective tissue and black discoloration of urine owing to a deficiency of homogentisic acid oxidase. " 01/01/2011 - "Early-onset ocular ochronosis in a girl with alkaptonuria (AKU) and a novel mutation in homogentisate 1,2-dioxygenase (HGD)." 02/01/2005 - "Alkaptonuric ochronosis is a rare autosomal recessive metabolic disorder resulting in a deficiency of homogentisic acid oxidase (alkaptonuria). " 06/01/1999 - "Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene."
5.	CollagenIBA 01/01/2022 - "Basophilic, Thickened Collagen Bundles Seen in Late-Stage Exogenous Ochronosis." 06/01/2000 - "Yellow-brown (ochre coloured) pigment was seen lying within the collagen bundles and also freely in the deeper dermis confirming our clinical diagnosis of alkaptonuric ochronosis. " 04/15/2019 - "Exogenous ochronosis (EO) is an entity that manifests as black-bluish or grayish-brown cutaneous hyperpigmentation, which is a consequence of the deposition of ochronotic pigment with characteristic banana-like morphology between the collagen fibers of the dermis. " 02/01/2002 - "The histologic features of localized argyria include swollen and homogenized collagen bundles resembling ochronosis, "pseudo-ochronosis," which may be more common than previously recognized." 07/28/2011 - "Alkaptonuric ochronosis is a heritable disorder of tyrosine metabolism, with various systemic abnormalities related to pigment deposition and degeneration of collagen and other tissues, including the heart and aorta. "
6.	Phenol (Carbolic Acid)FDA Link 11/01/2015 - "Exogenous ochronosis (EO) is a cutaneous disorder characterized by blue-black pigmentation resulting as a complication of long-term application of skin-lightening creams containing hydroquinone but may also occur due to topical contact with phenol or resorcinol in dark-skinned individuals. " 12/01/2010 - "Exogenous ochronosis has been reported worldwide following long-term application of skin-lightening creams that contain hydroquinone, phenol or resorcinol. " 08/01/1986 - "Exogenous ochronosis has been reported following the topical use of phenol in leg ulcers, the topical use of hydroquinone bleaching creams in black persons, and the oral administration of antimalarials for malaria and connective tissue diseases, but we could find no reports in the literature of exogenous ochronosis following intramuscular injections of antimalarials." 10/01/2019 - "Exogenous ochronosis is a cutaneous condition characterized by blue-black pigmentation resulting as a complication of long-term application of skin-lightening creams containing hydroquinone and other substances such as quinine, phenol and mercury derivatives. " 07/01/2011 - "Exogenous ochronosis consists of chronic hyperpigmentation of areas previously treated with topical agents such as hydroquinone, resorcinol, antimalarials and phenol. "
7.	MercuryIBA 11/01/1988 - "Biopsy specimens of the hyperpigmented areas showed deposits that were compatible with both mercury deposition and the diagnosis of exogenous ochronosis. " 12/01/2016 - "Exposure to chemicals in the bleaching products, notably, mercury (Hg), hydroquinone, and steroids, has been associated with a variety of adverse health effects, such as Hg poisoning and exogenous ochronosis. " 12/01/2007 - "hydroquinone, glucocorticoids and mercury) can cause adverse effects including dermatologic disorders such as dyschromia, exogenous ochronosis, acne and hypertrichosis, prominent striae, tinea corporis, pyoderma, erysipelas, scabies, and contact dermatitis and systemic complications such as hypertension, hypercorticism or surrenal deficiency, and mercurial nephropathy." 10/01/2019 - "Exogenous ochronosis is a cutaneous condition characterized by blue-black pigmentation resulting as a complication of long-term application of skin-lightening creams containing hydroquinone and other substances such as quinine, phenol and mercury derivatives. " 03/01/1991 - "These include hydroquinone-induced exogenous ochronosis from skin-bleaching creams, mercury deposits from mercury-containing skin-lightening soaps and creams, sulfonamide-related drugs, antimalarials, fixed drug eruptions, clofazimine, and photosensitizing herbal concoctions. "
8.	Homogentisic AcidIBA 09/01/2023 - "Exogenous ochronosis refers to accumulation of homogentisic acid metabolites in tissues, manifesting as pigmentation of affected tissues. " 06/30/2015 - "Exogenous ochronosis is caused by the accumulation of homogentisic acid resulting from long-term application of certain topical agents. " 12/01/2011 - "Redox-proteomics of the effects of homogentisic acid in an in vitro human serum model of alkaptonuric ochronosis." 10/01/2019 - "Alkaptonuric ochronosis was suspected and confirmed by the presence of homogentisic acid in the urine, and the diagnosis of L4L5 pseudarthrosis with associated severe sagittal malalignment in the context of ochronotic spondyloarthropathy was established. " 07/01/1992 - "In alkaptonuric ochronosis, the absence of homogentisic acid oxidase results in the accumulation of homogentisic acid in the body. "
9.	resorcinol (resorcin)IBA 10/01/1961 - "Exogenous ochronosis and myxoedema from resorcinol." 11/01/2015 - "Exogenous ochronosis (EO) is a cutaneous disorder characterized by blue-black pigmentation resulting as a complication of long-term application of skin-lightening creams containing hydroquinone but may also occur due to topical contact with phenol or resorcinol in dark-skinned individuals. " 12/01/2010 - "Exogenous ochronosis has been reported worldwide following long-term application of skin-lightening creams that contain hydroquinone, phenol or resorcinol. " 07/01/2011 - "Exogenous ochronosis consists of chronic hyperpigmentation of areas previously treated with topical agents such as hydroquinone, resorcinol, antimalarials and phenol. "
10.	Skin Lightening PreparationsIBA 02/01/1989 - "A survey was conducted to investigate the relationship between exogenous ochronosis and the use of skin lightening preparations amongst black individuals attending general outpatient departments in two South African hospitals. " 01/01/2016 - "However, traditional depigmenting agents such as HQ and corticosteroids, although highly effective, can raise safety concerns including exogenous ochronosis, atrophy, carcinogenesis and local and systemic untoward effects with long term use. " 06/01/2001 - "Effects observed were similar to those reported for prolonged use of topical steroids but also included periorbitary dyschromia, exogenous ochronosis, infectious dermatosis, and, in particular, extended dermatophytosis and necrotizing cellulitis, contact eczema, and certain hyperpigmentation when depigmenting agents were discontinued. "

Therapies and Procedures

1.	Gas Lasers 01/01/2023 - "Exogenous ochronosis successfully treated with the combination of intense pulsed light and fractional CO2 laser." 02/01/2013 - "Effect of combination of 1064 nm Q-switched Nd:YAG and fractional carbon dioxide lasers for treating exogenous ochronosis." 02/01/2013 - "We describe three cases of exogenous ochronosis of the malar areas due to long-term application of skin-lightening agents for melasma, effectively treated by combination of Q-switched Nd:YAG and the fractional carbon dioxide lasers. " 11/01/1990 - "Hydroquinone-induced localized exogenous ochronosis treated with dermabrasion and CO2 laser."
2.	Therapeutics 11/01/2004 - "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." 05/01/2019 - "Combination therapy of topical retinoids, corticosteroids, and hydroquinone has been effective in treating melasma, but long-term use is limited by corticosteroid atrophy and exogenous ochronosis. "
3.	Solid-State Lasers 04/01/2004 - "The QS alexandrite laser can effectively treat exogenous ochronosis without untoward side effects." 06/28/2023 - "Furthermore, this study identified that patients with exogenous ochronosis may respond well to treatment with Q-switched Alexandrite laser and microneedling. " 10/01/2013 - "Exogenous ochronosis - successful outcome after treatment with Q-switched Nd:YAG laser." 04/01/2004 - "Hydroquinone-induced exogenous ochronosis in two patients was treated with a QS alexandrite laser. " 04/01/2004 - "To report the effectiveness of a quality-switched (QS) 755-nm alexandrite laser in treating hydroquinone-induced exogenous ochronosis. "
4.	Percutaneous Collagen Induction 06/28/2023 - "Furthermore, this study identified that patients with exogenous ochronosis may respond well to treatment with Q-switched Alexandrite laser and microneedling. "
5.	Replacement Arthroplasty 12/01/2003 - "Alkaptonuric ochronosis: a case with multiple joint replacement arthroplasties." 07/28/2011 - "A 65-year-old woman with alkaptonuric ochronosis and a history of four joint replacements required aortic valve replacement for severe aortic stenosis. " 11/01/2004 - "Alkaptonuric ochronosis with aortic valve and joint replacements and femoral fracture: a case report and literature review."