-
Joint Bone Spine Nov 2022
Topics: Humans; Ochronosis; Intervertebral Disc; Intervertebral Disc Displacement; Calcinosis
PubMed: 35504514
DOI: 10.1016/j.jbspin.2022.105395 -
Turk Gogus Kalp Damar Cerrahisi Dergisi Jan 2022Alkaptonuria is a rare inherited metabolic disease caused by homogentisic acid oxidase enzyme deficiency. Homogentisic acid formed during phenylalanine and tyrosine...
Alkaptonuria is a rare inherited metabolic disease caused by homogentisic acid oxidase enzyme deficiency. Homogentisic acid formed during phenylalanine and tyrosine metabolism cannot be further metabolized and accumulates due to this enzyme deficiency. Some of the homogentisic acid that cannot be removed by metabolism is excreted with urine, some of it causes this accumulation known as ochronosis, which is characterized by dark pigmented color change in tissues. The classic clinical triad of the disease is darkening of the urine color, degenerative arthritis in the joints and dark colored pigmentation in the connective tissue. Herein, we present a case of ochronosis detected incidentally during aortic valve replacement with the diagnosis of aortic insufficiency.
PubMed: 35444851
DOI: 10.5606/tgkdc.dergisi.2022.20909 -
Clinical Case Reports Apr 2022Blue discoloration of the skin and cartilage, or ochronosis, is a rare physical examination finding. We present two cases of childhood onset ochronosis, one exogenous...
Blue discoloration of the skin and cartilage, or ochronosis, is a rare physical examination finding. We present two cases of childhood onset ochronosis, one exogenous and one endogenous in etiology. The first was caused by minocycline use for severe acne, and the second was caused by congenital alkaptonuria.
PubMed: 35441025
DOI: 10.1002/ccr3.5717 -
Journal of Orthopaedic Case Reports Dec 2021Ochronotic arthropathy (OcA) is a consequence of alkaptonuria, a rare systemic-inherited metabolic disorder leading to accumulation of homogentisic acid in articular...
INTRODUCTION
Ochronotic arthropathy (OcA) is a consequence of alkaptonuria, a rare systemic-inherited metabolic disorder leading to accumulation of homogentisic acid in articular cartilage and subsequent early degeneration of the joints. Only few cases of OcA managed with bilateral total knee arthroplasty (TKA) has been described in the literature so far. We aim to discuss surgical pearls, pitfalls, and clinical outcome of OcA of knees managed with simultaneous bilateral TKA.
CASE PRESENTATION
The patient was a 52-year-old female presented to outpatient facility with severe bilateral knee pain and difficult ambulation. After clinical and radiological diagnosis of osteoarthritis, she was posted for bilateral TKA. During arthrotomy, blackening of articular cartilage, quadriceps and patellar tendon, and synovium was noted. Subchondral bone was free of pigmentation though, seemed osteopenic while taking bone cuts. Right knee was implanted with cruciate retaining components with ultracongruent insert; while on the left side, posterior stabilized components were used. Diagnosis of ochronosis was made retrospectively with characteristic subtle pigmentation of nails, palms, pinnae, and urine homogentisic levels. Two years follow-up of the patient remained satisfactory without any major complications.
CONCLUSION
OcA may present with intra-operative surprise to the surgeon if not anticipated preoperatively. Simultaneous bilateral TKA is safe and effective treatment for end-stage arthritis. However, it is difficult to diagnose it preoperatively; a high clinical suspicion leads to meticulous assessment and counseling regarding potential anesthetic concerns, choice of implant, and possible intra-operative and post-operative complications reported sporadically though.
PubMed: 35415137
DOI: 10.13107/jocr.2021.v11.i12.2554 -
Journal of Orthopaedic Case Reports Oct 2021Alkaptonuria is a rare autosomal recessive metabolic disorder characterized by accumulation of homogentisic acid (HGA) due to an inherited deficiency of the enzyme HGA...
INTRODUCTION
Alkaptonuria is a rare autosomal recessive metabolic disorder characterized by accumulation of homogentisic acid (HGA) due to an inherited deficiency of the enzyme HGA oxidase. Unlike rheumatoid arthritis which affects the small joints of the hands and feet, ochronotic arthropathy predominantly involves the large weight-bearing joints such as hips, knees, and spine. The knee is the most common joint to be affected. Ochronotic arthropathy is usually managed conservatively, but for severely affected hip and knee joints, replacement is considered.
CASE REPORT
This report describes a case of 57-year-old male who presented with bilateral knee osteoarthritis who was incidentally diagnosed with ochronosis intraoperatively during total knee arthroplasty, its challenges faced and post-operative functional outcome after 18 months follow-up.
CONCLUSION
This case report highlights the need for high index of suspicion for preoperative diagnosis of ochronotic arthropathy. Difficult spinal anesthesia should be anticipated. Friable and stiff tendon due to ochronotic involvement can put the extensor tendon at risk of rupture during retraction of patella intraoperatively. Post-operative active quadriceps rehabilitation should be done with caution due to friable tendon.
PubMed: 35415103
DOI: 10.13107/jocr.2021.v11.i10.2464 -
Portuguese Journal of Cardiac Thoracic... Jan 2022Near infrared spectroscopy is a non-invasive method to assess regional oxygenation and is being used in transcatheter aortic valve implantation to document periods of... (Review)
Review
Near infrared spectroscopy is a non-invasive method to assess regional oxygenation and is being used in transcatheter aortic valve implantation to document periods of cerebral hypoperfusion, where cerebrovascular events are one of the most feared complications. Alkaptonuria is a rare metabolic disease characterized by accumulation of homogentisic acid in tissues and body fluids. The accumulation of pigment might interfere with the absorption of near infrared light, used in near infrared spectroscopy monitoring. We present a case of near infrared spectroscopy failing to accurately monitor cerebral oximetry in a woman, with alkaptonuria, undergoing a transcatheter aortic valve implantation.
Topics: Alkaptonuria; Cerebrovascular Circulation; Female; Humans; Ochronosis; Oximetry; Spectroscopy, Near-Infrared
PubMed: 35334175
DOI: 10.48729/pjctvs.224 -
The American Journal of Dermatopathology Jul 2022
Topics: Alkaptonuria; Collagen; Humans; Ochronosis
PubMed: 35234189
DOI: 10.1097/DAD.0000000000002172 -
Annales de Dermatologie Et de... Sep 2022
Topics: Alkaptonuria; Granuloma; Humans; Hydroquinones; Ochronosis
PubMed: 35184903
DOI: 10.1016/j.annder.2022.01.006 -
Journal of the American Academy of... Feb 2023Disorders of hyperpigmentation are common and, depending on the extent and location of involvement, can affect the quality of life and pose a significant psychologic... (Review)
Review
Disorders of hyperpigmentation are common and, depending on the extent and location of involvement, can affect the quality of life and pose a significant psychologic burden for patients. Given the similarities in presentation of the various causes of hyperpigmentation, it is often difficult to elucidate the etiology of these conditions, which is important to guide management. Furthermore, certain disorders, such as lichen planus pigmentosus and ashy dermatosis, have similar clinical and/or histologic presentations, and their classification as distinct entities has been debated upon, leading to additional confusion. In this review, the authors selected commonly encountered disorders of hyperpigmentation of the skin, subdivided into epidermal, dermal, or mixed epidermal-dermal disorders based on the location of pigment deposition, along with disorders of hyperpigmentation of the mucosa and nails. Melanocytic nevi, genetic disorders, and systemic causes of hyperpigmentation were largely excluded and considered to be outside the scope of this review. We discussed the pathogenesis of hyperpigmentation as well as the clinical and histologic features of these conditions, along with challenges encountered in their diagnosis and classification. The second article in this 2-part continuing medical education series focuses on the medical and procedural treatments of hyperpigmentation.
Topics: Humans; Quality of Life; Hyperpigmentation; Skin; Lichen Planus; Skin Neoplasms
PubMed: 35151757
DOI: 10.1016/j.jaad.2022.01.051 -
Surgical Neurology International 2022Alkaptonuria (AKU) is a rare hereditary disorder in which excess homogentisic acid (HGA) deposits in connective tissues (ochronosis). Here, we report the unusual...
BACKGROUND
Alkaptonuria (AKU) is a rare hereditary disorder in which excess homogentisic acid (HGA) deposits in connective tissues (ochronosis). Here, we report the unusual presentation of a lumbar disc herniation occurring in a patient with AKU warranting surgical intervention.
CASE DESCRIPTION
A 28-year-old male presented with 1 year of low back pain. The lumbar magnetic resonance imaging showed an extruded disc at the L4-L5 level accompanied extensive disc space narrowing and osteophyte formation. At surgery, the interspinous ligaments, facet joints, and disc herniation were black. In addition, the postoperative re-examination revealed a black discoloration of the nasal and ear cartilage. Finally, the diagnosis of AKU was confirmed when the urine specimen was positive for HGA.
CONCLUSION
Rarely, younger patients with AKU who develop excess black deposits of HGA in connective tissues (i.e., ochronosis) may present with lumbar disc herniations and spondylosis.
PubMed: 35127215
DOI: 10.25259/SNI_1178_2021