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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 Cosmetic Dermatology Dec 2023Reflectance confocal microscopy (RCM) has quickly transitioned from a research tool to an adjunct diagnostic bedside tool, providing the opportunity for noninvasive... (Review)
Review
BACKGROUND
Reflectance confocal microscopy (RCM) has quickly transitioned from a research tool to an adjunct diagnostic bedside tool, providing the opportunity for noninvasive evaluation of skin lesions with histologic resolution. RCM is an optical imaging technique that uses near-infrared excitation wavelengths and safe low-power lasers. En-face images of different skin layers (up to the superficial dermis) are acquired in grayscale based on the reflective indices of tissue components. Melanin has the highest reflective index (contrast) and appears bright on RCM.
AIMS
We present a review of the current literature on the use of RCM in the diagnosis and management of pigmentary disorders.
METHODS
We reviewed PubMed and Ovid Medline databases from January 2000 to June 2021, using MeSH key terms: "reflectance confocal microscopy, confocal laser scanning microscopy, pigmentary disorders, treatment, melasma, vitiligo, freckles, solar lentigo, lentigo, tattoo, complications, melanoma, skin cancers, pigmented lesions, post inflammatory, melanin, photoaging" to identify studies and review articles discussing the use of RCM in the diagnosis and management of pigmentary disorders.
RESULTS
RCM findings of pigmentary disorders were divided into the following categories: (1) disorders of increased pigmentation (post-inflammatory hyperpigmentation, melasma, Riehl's melanosis, solar lentigines, ephelides, hori nevus, naevus of Ota, café-au-lait macules, melanocytic nevus, melanoma, nevus spilus, labial mucosal melanosis, and mucosal melanoma), (2) disorders of decreased pigmentation or depigmentation (post-inflammatory hypopigmentation, vitiligo, nevus depigmentosus, halo nevus), and (3) exogenous pigmentation (tattoo, ochronosis).
CONCLUSION
RCM has been explored and proven valuable for the evaluation and management of pigmentary disorders including melasma, vitiligo, solar lentigines, tattoo, and tattoo-related complications.
Topics: Humans; Vitiligo; Melanins; Melanosis; Skin Neoplasms; Nevus; Hyperpigmentation; Hypopigmentation; Melanoma; Lentigo; Microscopy, Confocal
PubMed: 37759421
DOI: 10.1111/jocd.15827 -
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 -
Journal of Clinical Medicine Jun 2023Exogenous ochronosis is a rare dyschromia that primarily impacts those with skin of color. It is characterized by blue-black pigmentation and is associated with the...
Exogenous ochronosis is a rare dyschromia that primarily impacts those with skin of color. It is characterized by blue-black pigmentation and is associated with the long-term application of skin-lightening creams containing hydroquinone. Commonly confused with other dyschromias, the use of skin lightening topicals can cause paradoxical skin darkening in patients with known exogenous ochronosis. This is highly distressing to patients, often worsening the underlying dyschromia and making treatment more difficult. A 10-year retrospective analysis was conducted that revealed 25 patients with exogenous ochronosis. The average patient used a skin lightening cream for 9.2 years, with exogenous ochronosis most commonly arising on the cheeks (68%), forehead (24%), and temples (20%). Furthermore, this study identified that patients with exogenous ochronosis may respond well to treatment with Q-switched Alexandrite laser and microneedling. The incidence of exogenous ochronosis is likely to increase as demographics shift and access to a wide range of over-the-counter topicals becomes more available, both in the United States and worldwide. Therefore, it is imperative to better characterize exogenous ochronosis to identify best treatment practices for all patients.
PubMed: 37445377
DOI: 10.3390/jcm12134341