La ocronosis es una enfermedad genética rara del metabolismo de la fenilamina y tirosina en que se produce acumulación ácido homogentísico. este provoca alcaptonuria depósito el tejido conectivo, provocando coloración oscura mismo. En las articulaciones puede provocar artropatía temprana muy invalidante, conocida como ocronótica. Presentamos caso paciente diagnosticada ocronótica rodilla izquie...

Background: Exogenous ochronosis (EO) is a rare cutaneous disorder that disproportionately impacts skin of color and can be very challenging to treat. EO most commonly occurs secondary the continual chronic use hydroquinone resulting in an accumulation homogentisic acid polymerized ochre-colored pigment papillary dermis. There are few US cases date discussing clinicopathology color. From 1983 2...

Alkaptonuria (AKU) is an ultrarare autosomal recessive disorder resulting from a deficiency of homogentisate 1,2 dioxygenase (HGD), an enzyme involved in the catabolism of phenylalanine and tyrosine. Loss of HGD function prevents metabolism of homogentisic acid (HGA), leading to increased levels of plasma HGA and urinary excretion. Excess HGA becomes deposited in collagenous tissues and subsequ...

normally retained in the body because of its high renal clearance; the absence of the HGD enzyme leads to abundant urinary excretion of homogentisic acid, which darkens slowly upon oxidation by prolonged exposure to air. The darkening is hastened by the addition of alkali to the urine and is reflected in the original term for homogentisic acid, alkapton, which refers to its avidity for alkali. ...

Alkaptonuria ochronosis is a rare metabolic disease in which the body does not have enough enzyme called homogentisic acid oxidase. Due to the homogentisic acid oxidase deficiency, homogentisic acid accumulates in cartilage and connective tissues which leads to ochronotic arthritis. We reported a case of bilateral ochronotic arthritis verified by clinical presentation, imaging, arthroscopic and...

INTRODUCTION Hydroquinone is the best studied andmost widely used topical depigmenting agent, and represents the gold standard for treatment of disorders of pigmentation. Although ochronosis is a known sequela of long-term hydroquinone use, pigmentation of the nails is rarely a reported side effect. We present a case of identical twins who developed hyperpigmentation of identical nails after th...

Alkaptonuria (AKU) is an extremely rare autosomal recessive metabolic disorder characterized by a triad of homogentisic aciduria, arthritis, and ochronosis, affecting only 2–5 in a million individuals.[1] The management of AKU is usually symptomatic. However, surgical intervention necessitates in cases of significant arthritis. Here, we presented a 64‐year‐old female who underwent bilateral tot...