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1.
Rev Port Cir Cardiotorac Vasc ; 26(3): 225-227, 2019.
Artigo em Português | MEDLINE | ID: mdl-31734977

RESUMO

Alkaptonuria is a rare genetic disorder related to tyrosine metabolism. The cardiovascular manifestations are rare being the aortic stenosis the most commonly reported. We present a case of 72-year-old women who underwent aortic valve replacement with intraoperative findings in the aortic valve and the aortic wall suggestive of Cardiac Ochronosis. Once it is a rare disease there are issues related to the natural history of the disorder that still unknown, namely the type of aortic prothesis in use. For this reason, we find essential the documentation and follow-up of all these rare cases.


Assuntos
Alcaptonúria/complicações , Estenose da Valva Aórtica/cirurgia , Ocronose/patologia , Idoso , Valva Aórtica/patologia , Estenose da Valva Aórtica/patologia , Feminino , Implante de Prótese de Valva Cardíaca , Humanos , Ocronose/etiologia
2.
Eklem Hastalik Cerrahisi ; 30(3): 325-8, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31650933

RESUMO

Alkaptonuria is an autosomal recessive disease caused by the accumulation of homogentisic acid (HGA) products in the ligament, cartilage, skin and various organs due to the lack of HGA oxidase enzyme. In this article, we present a 61-year-old male patient operated on due to a diagnosis of spontaneous Achilles tendon rupture and diagnosed as alkaptonuria due to the intraoperative color of the tissues and the subsequent examinations. We also reviewed alkaptonuria and its accompanying pathologies in light of the literature.


Assuntos
Tendão do Calcâneo/lesões , Alcaptonúria/diagnóstico , Ocronose/diagnóstico , Acidentes por Quedas , Tendão do Calcâneo/cirurgia , Alcaptonúria/urina , Diagnóstico Diferencial , Humanos , Masculino , Pessoa de Meia-Idade , Ocronose/patologia , Ruptura Espontânea/complicações , Ruptura Espontânea/diagnóstico , Ruptura Espontânea/diagnóstico por imagem , Ruptura Espontânea/cirurgia
3.
Skinmed ; 17(3): 161-170, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31496470

RESUMO

Cutaneous deposition disorders represent an array of conditions resulting from the accumulation of endogenous and exogenous substances within the skin. Many of the deposition diseases resemble each other and can also be confused with disorders not related to deposition. Porphyria cutanea tarda (PCT) results from dysfunction particularly in the fifth enzyme of the heme synthesis pathway, leading to increased skin fragility and bullae among other abnormalities. Ochronosis develops from alkaptonuria or exogenous sources, creating deposition of ocher-colored pigment in the skin. Hemochromatosis is a systemic disorder that can be inherited or acquired, altering skin pigmentation in more than 90% of patients. PCT can be an initial manifestation of hemochromatosis. Argyria is an acquired disorder of silver deposition that can also cause pigmentation similar to ochronosis. These uncommon but not rare disorders may resemble and be confused with each other in multiple ways.


Assuntos
Argiria/diagnóstico , Hemocromatose/diagnóstico , Ocronose/diagnóstico , Porfiria Cutânea Tardia/diagnóstico , Argiria/etiologia , Argiria/patologia , Diagnóstico Diferencial , Hemocromatose/etiologia , Hemocromatose/patologia , Humanos , Ocronose/etiologia , Ocronose/patologia , Porfiria Cutânea Tardia/etiologia , Porfiria Cutânea Tardia/patologia
4.
Medicine (Baltimore) ; 98(34): e16837, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31441856

RESUMO

INTRODUCTION: Alkaptonuria (AKU) is a rare disease caused by deficiency of homogentisate 1,2-dioxygenase which results in deposition of homogentisic acid (HGA). Ochronotic arthritis, the deposition of excess oxidized HGA in the connective tissues, causes pigmentation and degeneration of the joint tissues ultimately resulting in chronic inflammation and osteoarthritis. The ochronotic arthritis has similar clinical features with osteoarthritis. There is currently no specific treatment for AKU and management is usually symptomatic. In severe cases, total joint arthroplasty is the major treatment approaches. It is rarely reported in China. PATIENT CONCERNS: Here we reported a case of a patient with bilateral knee pain for more than 1 year. He complained of a 20-year history of chronic, nonspecific low back pain and stiffness. His urine was black since he was a child. Six years after the knee surgery, his Achilles tendon ruptured. DIAGNOSIS: Specific radiographic and magnetic resonance imaging manifestations were observed. Darkly pigmented full-thickness cartilage and subchondral bone were found during the operation. Histological investigation also manifested dark stains in meniscus and synovial tissues. Black-denatured tendon tissue was also found during the operation. The patient was diagnosed as AKU. INTERVENTIONS: Total knee arthroplasty and Achilles tendon repair were operated separately after the disease was diagnosed. OUTCOMES: The patient recovered very well after the second surgery. He returned to full activities, described no knee pain, and presented to the clinic walking without any aid. Physical examination revealed 0 to 20 of plantar flexion and 0 to 15 of dorsiflexion of the ankle. CONCLUSIONS: Ochronosis is a very rare disease in Asia. This paper supplies new information for study of this disease. The mechanism is still unknown right now. Further studies will be necessary.


Assuntos
Tendão do Calcâneo/lesões , Alcaptonúria/complicações , Ocronose/complicações , Tendão do Calcâneo/cirurgia , Alcaptonúria/urina , Artroplastia do Joelho , Cartilagem Articular/patologia , Cartilagem Articular/cirurgia , Progressão da Doença , Humanos , Articulação do Joelho/diagnóstico por imagem , Articulação do Joelho/patologia , Articulação do Joelho/cirurgia , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Ruptura Espontânea/etiologia , Ruptura Espontânea/cirurgia
5.
Unfallchirurg ; 122(11): 905-910, 2019 Nov.
Artigo em Alemão | MEDLINE | ID: mdl-31332451

RESUMO

This article presents the case of a 53-year-old male patient born in Sri Lanka, who presented to the outpatient unit with the suspicion of empyema of the knee joint. Within the framework of knee arthroscopy, the diagnosis of ochronosis was made and later confirmed by histopathological biopsy. The alkaptonuria is caused by a homogentisate 1,2-dioxygenase deficiency and leads to an accumulation of homogentisic acid, a degradation product of tyrosine. This leads to the characteristic appearance of ochronosis with bluish-black deposits in the tissue (e.g. in connective tissue, sclera and ear cartilage) and a black coloration of the urine.


Assuntos
Alcaptonúria/complicações , Articulação do Joelho/cirurgia , Ocronose/cirurgia , Alcaptonúria/diagnóstico , Artroscopia , Biópsia , Humanos , Articulação do Joelho/patologia , Masculino , Pessoa de Meia-Idade , Ocronose/diagnóstico , Ocronose/etiologia , Ocronose/patologia
6.
Cornea ; 38(10): 1332-1335, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31219884

RESUMO

PURPOSE: To present a case series of patients with corneal and scleral changes associated with the use of skin-lightening creams. This is the first report of corneal changes with these widely available creams. METHODS: Three patients of West African origin presented with strikingly similar skin, corneal, and scleral changes and were found to have all been using skin-lightening creams containing hydroquinone. Histopathology was obtained for 1 patient. RESULTS: Three patients were referred to the corneal clinics of 2 hospitals with corneal changes and a history of blurred vision for 1 to 3 years. There was a 60-year-old woman from Nigeria and a 68-year-old woman and a 73-year-old man both from Ghana. All 3 had been using skin-lightening lotions containing hydroquinone on their faces for between 3 and 15 years and had black-blue facial pigmentation of exogenous ochronosis, a recognized complication of these creams. Their corneas all had horizontal striae radiating across the posterior corneas with scleral thinning and plaques. Linear brown epithelial pigmentation was observed within the lower third of the corneas. Biopsy of the sclera in 1 patient showed ochronosis. CONCLUSIONS: We present previously unreported eye changes associated with the use of skin-lightening creams containing hydroquinone, with a triad of signs: posterior corneal striae radiating from 3 o'clock to 9 o'clock, thinning and plaques in the sclera, and a normal endothelial cell count. Similar pathological changes are seen in exogenous ochronosis, a recognized skin complication of hydroquinone, are seen in the sclera.


Assuntos
Alcaptonúria/diagnóstico , Córnea/patologia , Hidroquinonas/efeitos adversos , Ocronose/diagnóstico , Esclera/patologia , Administração Tópica , Idoso , Alcaptonúria/induzido quimicamente , Biópsia , Córnea/efeitos dos fármacos , Fármacos Dermatológicos/administração & dosagem , Fármacos Dermatológicos/efeitos adversos , Feminino , Humanos , Hidroquinonas/administração & dosagem , Masculino , Pessoa de Meia-Idade , Ocronose/induzido quimicamente , Esclera/efeitos dos fármacos
7.
J Cutan Pathol ; 46(8): 623, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31070271
9.
Dermatol Online J ; 25(4)2019 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-31046911

RESUMO

Endogenous ochronosis (EO) or alkaptonuria is an inherited autosomal recessive disease caused by the insufficiency of the enzyme homogentisic acid dioxygenase. This disturbance causes an accumulation and increased renal excretion of homogentisic acid (AHG), which manifests as dark urine when it oxidizes on contact with air. Other clinical manifestations of OE are the result of the deposit of AHG in the form of ochronotic pigment at the level of collagen in the skin and cartilage, where it causes blue-gray cutaneous hyperpigmentation, degenerative arthropathy, valvular disease, and other multisystem effects. Despite the progressive and irreversible nature of OE and the lack of a curative treatment, the life expectancy is preserved. We report a new case of EO with cutaneous and joint involvement, in which a high clinical suspicion, confirmed by elevated AHG in urine was the key in the diagnosis.


Assuntos
Alcaptonúria/diagnóstico , Ácido Homogentísico/urina , Hiperpigmentação/etiologia , Artropatias/etiologia , Ocronose/diagnóstico , Alcaptonúria/complicações , Alcaptonúria/urina , Feminino , Humanos , Pessoa de Meia-Idade , Ocronose/etiologia
10.
Dermatol Online J ; 25(4)2019 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-31046915

RESUMO

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. 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. The most frequent cause of EO is the use of facial depigmenting creams containing hydroquinone, a common practice among women with high phototypes. We present a woman who developed EO on the face, upper chest, and back after prolonged use of a depigmenting cream containing hydroquinone.


Assuntos
Antioxidantes/efeitos adversos , Hidroquinonas/efeitos adversos , Hiperpigmentação/induzido quimicamente , Ocronose/induzido quimicamente , Preparações Clareadoras de Pele/efeitos adversos , Dorso , Dermatoses Faciais/induzido quimicamente , Feminino , Humanos , Hiperpigmentação/patologia , Pessoa de Meia-Idade , Ocronose/patologia , Tórax
12.
Ann Thorac Surg ; 108(4): e257-e259, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-30926473

RESUMO

Alkaptonuria is rare genetic disorder of tyrosine metabolism manifesting with signs of tissue pigmentation, dark urine, and ochronotic arthropathies. Commonly undiscovered by late adulthood, alkaptonuria can manifest as cardiac ochronosis with cardiovascular disorders such as valvulopathies, but rarely coronary artery disease. This case report describes 2 patients with aortic stenosis and coronary artery disease in whom alkaptonuria was diagnosed during open heart surgery.


Assuntos
Alcaptonúria/complicações , Estenose da Valva Aórtica/etiologia , Doença da Artéria Coronariana/etiologia , Ocronose/etiologia , Idoso , Alcaptonúria/diagnóstico , Estenose da Valva Aórtica/cirurgia , Doença da Artéria Coronariana/cirurgia , Feminino , Humanos , Pessoa de Meia-Idade , Ocronose/patologia
13.
Clin Nucl Med ; 44(5): e360-e361, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30829862

RESUMO

Ochronosis (alkaptonuria) is an autosomal recessive inherited metabolic disease that causes pigmentation by accumulation of homogenous acid in the connective tissue. The most important causes of morbidity are ochronotic arthropathy and cardiovascular involvement seen in fourth and sixth decades, respectively. In this case report, we report the prevalence of F-FDG PET/BT findings in a 48-year-old man with ochronosis who underwent F-FDG PET/BT imaging for the evaluation of mediastinal lymphadenopathy.


Assuntos
Ocronose/diagnóstico por imagem , Tomografia Computadorizada com Tomografia por Emissão de Pósitrons , Fluordesoxiglucose F18 , Humanos , Masculino , Pessoa de Meia-Idade , Compostos Radiofarmacêuticos
15.
J Neurol Surg A Cent Eur Neurosurg ; 80(2): 131-133, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30477028

RESUMO

Alkaptonuria is a rare metabolic disease caused by deficiency of homogentisic acid oxidase and characterized by bluish-black discoloration of cartilages and skin (ochronosis). Defective production of this enzyme results in the accumulation of homogentisic acid (HGA), a tyrosine degradation product, in the bloodstream. Accumulation of HGA and its metabolites in tissues causes ochronosis. The word ochronosis refers to the dark bluish-black discoloration of connective tissues including the sclera, cornea, auricular cartilage, heart valves, articular cartilage, tendons, and ligaments. Neurogenic claudication resulting from focal hypertrophy of the ligamentum flavum in the lumbar spine due to ochronotic deposits has only been previously reported once in the literature. In this article, we present a 71-year-old male patient with alkaptonuria-associated degenerative L3-L4-L5 stenosis, diagnosed after lumbar decompressive laminectomy.


Assuntos
Alcaptonúria/complicações , Ligamento Amarelo/patologia , Vértebras Lombares , Ocronose/etiologia , Idoso , Alcaptonúria/patologia , Humanos , Masculino , Ocronose/patologia
16.
J Cell Physiol ; 234(5): 6696-6708, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30341892

RESUMO

Alkaptonuria (AKU) is a disease caused by a deficient homogentisate 1,2-dioxygenase activity leading to systemic accumulation of homogentisic acid (HGA), that forms a melanin-like polymer that progressively deposits onto connective tissues causing a pigmentation called "ochronosis" and tissue degeneration. The effects of AKU and ochronotic pigment on the biomechanical properties of articular cartilage need further investigation. To this aim, AKU cartilage was studied using thermal (thermogravimetry and differential scanning calorimetry) and rheological analysis. We found that AKU cartilage had a doubled mesopore radius compared to healthy cartilage. Since the mesoporous structure is the main responsible for maintaining a correct hydrostatic pressure and tissue homoeostasis, drastic changes of thermal and rheological parameters were found in AKU. In particular, AKU tissue lost its capability to enhance chondrocytes metabolism (decreased heat capacity) and hence the production of proteoglycans. A drastic increase in stiffness and decrease in dissipative and lubricant role ensued in AKU cartilage. Multiphoton and scanning electron microscopies revealed destruction of cell-matrix microstructure and disruption of the superficial layer. Such observations on AKU specimens were confirmed in HGA-treated healthy cartilage, indicating that HGA is the toxic responsible of morphological and mechanical alterations of cartilage in AKU.


Assuntos
Alcaptonúria/tratamento farmacológico , Condrócitos/efeitos dos fármacos , Ácido Homogentísico/farmacologia , Ocronose/tratamento farmacológico , Alcaptonúria/metabolismo , Cartilagem Articular/efeitos dos fármacos , Cartilagem Articular/metabolismo , Condrócitos/metabolismo , Humanos , Oxirredução/efeitos dos fármacos , Pigmentação/efeitos dos fármacos
17.
Spine (Phila Pa 1976) ; 44(1): E53-E59, 2019 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-29933333

RESUMO

STUDY DESIGN: Case report and literature review. OBJECTIVE: To characterize the rare presentation of myelopathy occurring secondary to alkaptonuria and to evaluate the available evidence regarding its treatment. SUMMARY OF BACKGROUND DATA: Alkaptonuria is an autosomal recessive genetic condition with an estimated incidence of 1 in 250,000 to 1 in 1,000,000 people. Mutation of the enzyme homogentisate 1,2-dioxygenase leads to the production of high levels of homogentisic acid, with subsequent deposition in ligaments, cartilage, and menisci. Involvement of the spine is termed "ochronotic spondyloarthropathy," of which myelopathy is an uncommon presentation. METHODS: We present the case of a 57-year-old man with alkaptonuria-associated myelopathy, who underwent surgical decompression. Ten additional cases were identified in the literature by a systematic search of PubMed and Google Scholar. RESULTS: In a patient presenting with myelopathy, alkaptonuria may be suspected because of medical history, family history, symptoms (including darkened urine, pigmented ear cartilage, and sclera), or radiographic changes, such as multilevel disc collapse, progressive wafer-like disc calcification, extensive osteophyte formation, and spinal deformity. The diagnosis can be confirmed by urine homogentisic acid testing. Of the 11 patients presented here or identified in the literature, 2 were treated nonoperatively, 8 were treated with decompressive spinal surgery, and treatment of the myelopathy was not discussed for 1 patient. In all cases in which outcomes were reported, substantial improvement in the patient's condition was seen. CONCLUSION: Alkaptonuria is a rare cause of myelopathy, but one that clinicians should understand. Although no disease-modifying treatment currently exists for alkaptonuria, the use of symptomatic treatments and, particularly, surgical decompression is recommended to address myelopathy if it develops. LEVEL OF EVIDENCE: 4.


Assuntos
Alcaptonúria/diagnóstico por imagem , Alcaptonúria/cirurgia , Ocronose/diagnóstico por imagem , Ocronose/cirurgia , Doenças da Medula Espinal/diagnóstico por imagem , Doenças da Medula Espinal/cirurgia , Alcaptonúria/complicações , Doenças da Medula Óssea/complicações , Doenças da Medula Óssea/diagnóstico por imagem , Doenças da Medula Óssea/cirurgia , Calcinose/complicações , Calcinose/diagnóstico por imagem , Calcinose/cirurgia , Descompressão Cirúrgica/métodos , Humanos , Tinta , Masculino , Pessoa de Meia-Idade , Ocronose/complicações , Doenças da Medula Espinal/complicações , Espondiloartropatias/complicações , Espondiloartropatias/diagnóstico por imagem , Espondiloartropatias/cirurgia
18.
J Forensic Sci ; 64(3): 913-916, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30229904

RESUMO

Ochronosis is the blue-gray discoloration of collagen-containing tissues due to homogentisic acid (HGA) deposition, secondary to endogenous alkaptonuria or exogenous enzyme inhibition. In renal disease, accumulation of HGA in serum can cause methemoglobinemia. A 60-year-old woman with renal disease and anemia presented with 3 days of weakness and months of gray skin discoloration. Her hemoglobin was 8.1g/dl with 24.5% methemoglobin. Despite treatment with methylene blue, exchange transfusion, and continuous renal replacement therapy, the patient died. Autopsy revealed gray discoloration and ochronotic pigment in the ribs and cartilage. Based on these findings, the patient was diagnosed with ochronosis, suggestive of alkaptonuria, complicated by methemoglobinemia. The differential diagnosis for blue-gray skin discoloration includes argyria, methemoglobinemia, and ochronosis. This patient's clinical and autopsy findings suggested alkaptonuria complicated by methemoglobinemia due to progressive renal dysfunction. Development of methemoglobinemia in the setting of chronic skin discoloration and renal failure should prompt consideration of alkaptonuria.


Assuntos
Metemoglobinemia/etiologia , Ocronose/patologia , Alcaptonúria/diagnóstico , Evolução Fatal , Feminino , Hemoglobinas/análise , Humanos , Falência Renal Crônica/complicações , Pessoa de Meia-Idade , Transtornos da Pigmentação/etiologia , Transtornos da Pigmentação/patologia
19.
Clin Dermatol ; 37(5): 447-467, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31896402

RESUMO

Gradations in skin color are a consequence of differing amounts of melanin and their varying distribution. Although many darkly pigmented skin lesions are melanocytic and can be attributed to melanin content, the color of a black lesion can also be due to blood, necrotic tissue, or exogenous pigment. The source, pattern, and distribution of the color in black lesions usually offer important insight into its etiology. This contribution reviews conditions that can take on a black color, discussing the cause of the hue and any additional impact sun exposure may have.


Assuntos
Hiperpigmentação/diagnóstico , Hiperpigmentação/etiologia , Lúpus Eritematoso Discoide/diagnóstico , Melanoma/diagnóstico , Nevo Azul/diagnóstico , Neoplasias Cutâneas/diagnóstico , Acantose Nigricans/diagnóstico , Acantose Nigricans/etiologia , Acantose Nigricans/terapia , Calciofilaxia/diagnóstico , Calciofilaxia/tratamento farmacológico , Carcinoma Basocelular/diagnóstico , Carcinoma Basocelular/patologia , Dermatomicoses/complicações , Dermatomicoses/diagnóstico , Diagnóstico Diferencial , Humanos , Hiperpigmentação/terapia , Ceratose Seborreica/diagnóstico , Lúpus Eritematoso Discoide/tratamento farmacológico , Melanoma/etiologia , Melanoma/terapia , Mucormicose/complicações , Mucormicose/diagnóstico , Mucormicose/terapia , Membrana Mucosa , Doenças da Unha/diagnóstico , Nevo Azul/cirurgia , Nevo Fusocelular/diagnóstico , Nevo Fusocelular/patologia , Ocronose/diagnóstico , Ocronose/etiologia , Placa Aterosclerótica/complicações , Placa Aterosclerótica/diagnóstico , Prognóstico , Dermatopatias Papuloescamosas/diagnóstico , Dermatopatias Papuloescamosas/etiologia , Neoplasias Cutâneas/etiologia , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/cirurgia , Tatuagem
20.
Clin Dermatol ; 37(5): 507-515, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31896405

RESUMO

Gray diseases are a group of skin disorders characterized mainly by gray discoloration with or without involving the mucous membranes and nails. These diseases may be hereditary or acquired. Some of the better-known hereditary entities are dermal melanocytosis, incontinentia pigmenti, hypomelanosis of Ito, hemochromatosis, ochronosis, and silvery hair syndrome. Acquired diseases with gray coloring include late-stage organ failure, lichen planus pigmentosus, erythema dyschromicum perstans, and drug reactions. The discoloration is due to either increased epidermal and or dermal melanin or dermal deposition of a chromogen or a combination of both. Investigations are directed to determining the underlying medical condition and a skin biopsy is usually unnecessary. Likewise, treatment is directed mainly toward the underlying medical disease. Although bleaching (lightening) agents may diminish the discoloration, better results may be obtained from using a Q-switched laser and intense pulsed light, either alone or in combination with topical agents.


Assuntos
Hiperpigmentação/etiologia , Neoplasias Cutâneas/complicações , Antibacterianos/efeitos adversos , Cor , Erupção por Droga/etiologia , Hemocromatose/complicações , Humanos , Hiperpigmentação/diagnóstico , Hiperpigmentação/genética , Incontinência Pigmentar/diagnóstico , Metais Pesados/efeitos adversos , Mancha Mongólica/complicações , Membrana Mucosa , Doenças da Unha/etiologia , Nevo de Ota/complicações , Ocronose/complicações
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