Alkaptonuric ochronosis presenting as palmoplantar pigmentation

Abstract

We describe a 37-year-old woman who presented with palmoplantar pigmentation, thickening and pitting of 4 years duration. Bluish pigmented patches were seen over the sclera of her eyes. Her lumbar spine showed typical calcification of the intervertebral discs. Addition of Benedict's reagent to a urine sample of the patient gave rise to greenish brown precipitate and brownish black supernatant. Alkalinization of urine turned it black. A biopsy of the palmar lesion demonstrated irregular breaking up, swelling and homogenization of collagen bundles in the reticular dermis. Yellow-brown (ochre coloured) pigment was seen lying within the collagen bundles and also freely in the deeper dermis confirming our clinical diagnosis of alkaptonuric ochronosis. To the best of our knowledge this is probably the second report of alkaptonuria presenting with palmoplantar pigmentation.

Alkaptonuric Ochronosis with Aortic Valve and Joint Replacements and Femoral Fracture: A Case Report and Literature Review

“…3 In 1866, Virchow called the condition ochronosis (meaning "yellow disease" in Greek) because the accumulated pigment in the connective tissues appears as ochre (yellow) when examined microscopically. 12 At the beginning of the last century alkaptonuria was the first disorder to be found to conform to the applicability of the rediscovered Mendelian laws of autosomal recessive inheritance 13 and became a cornerstone of the fundamental concept of "inborn errors of metabolism" (Mendelian Inheritance in Man number [McKusick] 203500). A half century later, the specific enzyme defect in the liver of a patient with alkaptonuria was demonstrated to be a deficiency of homogentisic acid 1,2-dioxygenase (HGO) activity, one of six enzymes required for catabolism of the aromatic amino acids phenylalanine and tyrosine.…”

Endogenous ochronosis with a predominant acrokeratoelastoidosis‐like presentation

“…Though this may not be the earliest sign, it is a vital clue when typical findings like ocular or cartilaginous pigmentation are unmanifest. Table 1 summarizes six patients 2–7 in whom palmoplantar pigmentation served as a marker for suspecting ochronosis, and in some, 2–4 like ours, they were the presenting complaint. Consanguinity was seen in only one 6 .…”

Severe Osteoarthritis of the Knee as an Early Symptom of Alkaptonuria: A Case Report

“…The presented case was the first one to be documented in our hospital at least in the last 10 years with an ochronotic joint disease. Early manifestations of AKU, such as dark urine are usually noticed by mothers when changing the diaper of a newborn (16). Physical symptoms of AKU, particularly ochronotic ear and scleral pigmentations, always appear after 30 years of age with progressive arthritic and organ changes as age advances (2, 4).…”