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Cureus Nov 2023Exogenous ochronosis (EO) results as a complication of long-term usage of skin lightening creams containing hydroquinone or other bleaching agents. Duration of use and...
Exogenous ochronosis (EO) results as a complication of long-term usage of skin lightening creams containing hydroquinone or other bleaching agents. Duration of use and concentration of hydroquinone in the product are noted to be key factors that decide the occurrence of EO. With more cases being reported globally, current classification systems lack practical applicability and may not be adequate for detecting early cases. Dermoscopy and clinicopathological correlation are very important for early diagnosis of EO to avoid undue overuse of hydroquinone leading to further deterioration of pigmentation. We report a series of six patients in one year with EO with the minimum duration of use of hydroquinone being three months to the development of ochronosis. The most common strength of hydroquinone used was 2%, documented in 5/6 cases. Three out of six patients (50%) had discordant findings according to the Dogliotti classification, while four out of six patients (66.7%) had discordant findings according to the Phillips classification. Our findings suggest that EO can occur with a shorter duration of hydroquinone use, even at lower percentage strengths. We propose that it may be more useful to accept the clinical presentation supported by dermoscopic features as adequate actionable findings, consider all the histopathological stages as warning signs of ochronosis or impending ochronosis, and terminate the use of hydroquinone in such patients.
PubMed: 38161945
DOI: 10.7759/cureus.49620 -
Cureus Oct 2023Alkaptonuria is a rare genetic disorder characterized by the excessive production of homogentisic acid, leading to the formation and deposition of pigment polymers...
Alkaptonuria is a rare genetic disorder characterized by the excessive production of homogentisic acid, leading to the formation and deposition of pigment polymers throughout the body. It is extremely rare, affecting only around one in 100,000 individuals. Despite the normal life expectancy, it can cause severe morbidities. Alkaptonuria is typically managed supportively with pain medication, dietary modifications, and surgical interventions, which are considered to be the gold standard of therapy. Here we present a case of a 33-year-old male with no previous medical or surgical history who presented with severe acute back pain radiating to the left leg. Genetic testing confirmed a homozygous pathogenic variant for alkaptonuria. This case highlights the challenges in diagnosing alkaptonuria, emphasizing the significance of early detection, and clinical evaluation for improved outcomes. Furthermore, it underscores the need to consider alkaptonuria as a multidimensional disease, necessitating further research to enhance our understanding and develop effective management. Therefore, this study serves as an opportunity for future trials and studies aimed at digging deeper into the intricacies of alkaptonuria to increase our understanding and establish comprehensive management plans for affected individuals.
PubMed: 37937039
DOI: 10.7759/cureus.46644 -
Biomedicines Sep 2023Endogenous ochronosis, also known as alkaptonuria, is a rare disease known for its bluish-black discoloration of the skin, sclerae, and pinnae, as well as urine that...
Endogenous ochronosis, also known as alkaptonuria, is a rare disease known for its bluish-black discoloration of the skin, sclerae, and pinnae, as well as urine that turns black upon standing. Though rarely fatal, joint degradation is a common sequela, and many patients require multiple large joint arthroplasties throughout their lifetime. Though many aspects of the pathophysiological mechanisms of the disease have been described, questions remain, such as how the initiation of ochronotic pigmentation is prompted and the specific circumstances that make some tissues more resistant to pigmentation-related damage than others. In this report, we present the case of an 83-year-old female previously diagnosed with alkaptonuria including high-quality arthroscopic images displaying the fraying of articular cartilage. We also offer a summary of the latest literature on the pathophysiological mechanisms of the disease, including cellular-level changes observed in ochronotic chondrocytes, biochemical and mechanical alterations to the cartilaginous extracellular matrix, and patterns of pigmentation and joint degradation observed in humans and mice models. With these, we present an overview of the mechanisms of ochronotic chondropathy and joint degradation as the processes are currently understood. While alkaptonuria itself is rare, it has been termed a "fundamental disease," implying that its study and greater understanding have the potential to lead to insights in skeletal biology in general, as well as more common pathologies such as osteoarthritis and their potential treatment mechanisms.
PubMed: 37892999
DOI: 10.3390/biomedicines11102625 -
Frontiers in Medicine 2023Ochronosis is a rare autosomal recessive disorder of tyrosine metabolism characterized by multilevel spinal degeneration and arthritis of large weight-bearing joints,...
Ochronosis is a rare autosomal recessive disorder of tyrosine metabolism characterized by multilevel spinal degeneration and arthritis of large weight-bearing joints, which is referred to as ochronotic arthropathy. In this case report, we describe diagnosis and treatment of ochronotic arthropathy in a patient who underwent total hip arthroplasty (THA) and total knee arthroplasty (TKA). The Harris hip score was 26 preoperatively and 45, 68, 76, 90, 92, and 94 at 1, 3, 6, 9, 11, and 14 months, respectively, postoperatively. The forgotten joint score (FJS) of the hip was 27.8, 52.8, 81.1, 89.0, 90.6, and 92.4 at 1, 3, 6, 9, 11, and 14 months, respectively, postoperatively. TKA was performed 8 months after THA. The Knee Society Score was 36 before TKA and 74, 82, and 90 at 1, 3, and 6 months, respectively, after TKA. The FJS of the knee was 36.6, 63.9, and 84.5 at 1, 3, and 6 months, respectively, after TKA. The patient's knee range of motion returned to normal, with significant reduction in pain and improved satisfaction levels after TKA. THA and TKA can achieve good clinical outcomes in patients with ochronosis accompanied by severe joint pain.
PubMed: 37795417
DOI: 10.3389/fmed.2023.1212580 -
Cureus Aug 2023Alkaptonuria is a rare autosomal recessive trait. Symptomatic lumbar disc herniation warranting surgical intervention is a rare scenario in alkaptonuria and only a few...
Alkaptonuria is a rare autosomal recessive trait. Symptomatic lumbar disc herniation warranting surgical intervention is a rare scenario in alkaptonuria and only a few cases have been described in the literature. We present one such rare case of alkaptonuria in a 31-year-old female presenting with low back pain and left leg radiculopathy not relieved with conservative management. Roentgenograms of the lumbar spine revealed wafer-like disc calcifications and MRI showed a herniated disc at the L4-L5 level with deeply hypointense disc spaces in T2 suggestive of disc calcification and associated modic type 2 changes. During the surgery, the disc material removed was black in color, which raised a clinical suspicion of alkaptonuria. Postoperatively, the patient was re-examined and urine homogentisic acid was found to be raised. This, along with a histopathological examination, was diagnostic of alkaptonuria. The patient had excellent relief of symptoms postoperatively. In conclusion, if a 'black disc' is found during surgery, retrospective analysis and re-examination of patient clinical features and urine examination have to be done to diagnose alkaptonuria. While making a differential diagnosis of degenerative disc disease in patients with a calcified disc seen on radiography, a high index of suspicion for alkaptonuria has to be maintained.
PubMed: 37786570
DOI: 10.7759/cureus.44395 -
Journal of Bone Metabolism Aug 2023Alkaptonuria is an extremely rare autosomal recessive metabolic disorder characterized by dark urine, ochronosis, and arthritis of the spine and major joints. We report...
Alkaptonuria is an extremely rare autosomal recessive metabolic disorder characterized by dark urine, ochronosis, and arthritis of the spine and major joints. We report a case of ochronotic arthritis observed during total knee replacement surgery in a 65-year-old male patient with no relevant medical history. Based on a literature review, this is the first case of ochronotic arthritis reported in Korea.
PubMed: 37718906
DOI: 10.11005/jbm.2023.30.3.283 -
Cureus Aug 2023We report a case of minocycline-induced ocular ochronosis with scleral, retinal, and cutaneous manifestations. A 65-year-old male who had taken minocycline for four...
We report a case of minocycline-induced ocular ochronosis with scleral, retinal, and cutaneous manifestations. A 65-year-old male who had taken minocycline for four years to treat hidradenitis suppurativa, an inflammatory skin condition affecting the apocrine sweat glands and hair follicles, presented for evaluation of discoloration of bilateral sclera, nail beds, and gingiva. Ophthalmic evaluation revealed intact visual acuity, diffuse blue-gray hyperpigmentation of the sclera, more pronounced overlying insertions of the horizontal muscles, without any scleral thinning. Macular optical coherence tomography and fundus exam revealed a blue hue to the underlying choroid with dark deposits in the retinal pigment epithelium. Despite drug discontinuation, after six years the discoloration persisted. Management was directed towards patient tolerability.
PubMed: 37700983
DOI: 10.7759/cureus.43307 -
Acta Ortopedica Mexicana 2022alkaptonuria is a very rare metabolic disease with autosomal recessive inheritance due to HGA oxidase deficiency. Classically described and diagnosed in the third to...
INTRODUCTION
alkaptonuria is a very rare metabolic disease with autosomal recessive inheritance due to HGA oxidase deficiency. Classically described and diagnosed in the third to fourth decade of life, affecting both men and women; Its diagnostic impression is clinical based on the blue/black coloration of the conjunctivae, however it is confirmed by the specific analysis of the enzyme in the urine, to date there is no cure and its treatment is palliative and symptomatic.
MATERIAL AND METHODS
descriptive, observational, case series study, the primary objective of which is to describe the progression of the disease and its involvement in the musculoskeletal system.
RESULTS
two clinical cases are presented in women and men in which the broad clinic is illustrated, its progressive advance and the different alterations that it can generate in the musculoskeletal system.
CONCLUSIONS
alkaptonuria is a rare disease which leads to a severe secondary arthropathy, currently without a specific management which is based on treating the symptoms, in its final stages joint replacements are a management option with satisfactory results for the relief of pain.
Topics: Male; Humans; Female; Alkaptonuria; Ochronosis; Arthroplasty, Replacement; Joint Diseases; Osteoarthritis; Cartilage Diseases
PubMed: 37669658
DOI: No ID Found -
Indian Journal of Dermatology,... Jul 2023
PubMed: 37609733
DOI: 10.25259/IJDVL_935_2022