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Case Reports
. 2014 Sep-Oct;89(5):799-801.
doi: 10.1590/abd1806-4841.20143052.

Alkaptonuria--case report

Fernanda Helena Craide  1 , Juliana Salvini Barbosa Martins da Fonseca  2 , Priscila Coelho Mariano  1 , Natalia Monteiro Fernandez  3 , Carlos Gustavo Carneiro de Castro  1 , Yuri de Souza Lima Mene  1
Affiliations
Case Reports

Alkaptonuria--case report

Fernanda Helena Craide et al. An Bras Dermatol. 2014 Sep-Oct.

Abstract

Alkaptonuria, also called endogenous ochronosis, is a rare metabolic autosomal recessive disorder. It occurs by complete inhibition of homogentisic acid oxidase enzyme having its deposition in various tissues. Male patient, 52 years old, sought medical help complaining about progressive appearance of hyperchromic papules on the lateral edge of the second finger of both hands for 02 years. He also complained about darkening of urine, sperm and underwear. Incisional biopsy of second hand finger and test for homogentisic acid in the urine results were positive. The findings are compatible with the diagnosis of alkaptonuria. Given these findings, treatment was initiated, followed-up by other specialties and he was advised to avoid certain foods.

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Conflict of interest statement

Conflict of interest: None

Figures

FIGURE 1
FIGURE 1
Grayish spot in sclera
FIGURE 2
FIGURE 2
Grayish blue papules in the extensor surface of second finger
FIGURE 3
FIGURE 3
Radiography of vertebral column showing calcification of lower and lumbar thoracic intervertebral discs, reduction of disc spaces and posterior arthrodesis with steel rod
FIGURE 4
FIGURE 4
Hyperkeratosis, hypergranulosis, irregular acanthosis, basophilic fibrilar elastotic degeneration of collagen in the upper dermis
FIGURE 5
FIGURE 5
With greater magnification, degenerated and fractured collagen fibers with ochre pigment deposit in clusters is observed
See this image and copyright information in PMC

References

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