[Involvement of the tympanic membrane and ear ossicle system in ochronotic alkaptonuria]. 1984

H W Pau

Ochronotic alcaptonuria is a rare hereditary disease in which the metabolism of phenylalanine and tyrosine is disturbed, leading to accumulation and urinary excretion of homogentisic acid. Its affinity towards bradytroph tissues makes e.g. cartilage, tendons, sclera etc. become stained dark, hard and inflexible, leading to early arthrosis or ruptures of tendons. In the ENT literature mostly signs like darkening of the conchas, the septum or the larynx are mentioned, whereas involvements of the middle ear are rarely described. Such changes were seen in a 60-year old patient, who showed dark discolourations of his thickened tympanic membranes. He had a combined high-frequency hearing loss, the conductive component of which we explain as an increase of mass and changed elasticity. It may also be due to alterations of the ossicular chain. The case was demonstrated to direct the ENT specialist's attention to findings suspicious of ochronotic alcaptonuria and - on the other hand - to present photos of involved tympanic membranes, which in this kind we did not see in the literature.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009794 Ochronosis The yellowish discoloration of connective tissue due to deposition of HOMOGENTISIC ACID (a brown-black pigment). This is due to defects in the metabolism of PHENYLALANINE and TYROSINE. Ochronosis occurs in ALKAPTONURIA, but has also been associated with exposure to certain chemicals (e.g., PHENOL, trinitrophenol, BENZENE DERIVATIVES). Ochronoses
D012022 Reflex, Acoustic Intra-aural contraction of tensor tympani and stapedius in response to sound. Acoustic Reflex
D002356 Cartilage A non-vascular form of connective tissue composed of CHONDROCYTES embedded in a matrix that includes CHONDROITIN SULFATE and various types of FIBRILLAR COLLAGEN. There are three major types: HYALINE CARTILAGE; FIBROCARTILAGE; and ELASTIC CARTILAGE. Cartilages
D004429 Ear Ossicles A mobile chain of three small bones (INCUS; MALLEUS; STAPES) in the TYMPANIC CAVITY between the TYMPANIC MEMBRANE and the oval window on the wall of INNER EAR. Sound waves are converted to vibration by the tympanic membrane then transmitted via these ear ossicles to the inner ear. Auditory Ossicles,Auditory Ossicle,Ear Ossicle,Ossicle, Auditory,Ossicle, Ear,Ossicles, Auditory,Ossicles, Ear
D004431 Ear, External The outer part of the hearing system of the body. It includes the shell-like EAR AURICLE which collects sound, and the EXTERNAL EAR CANAL, the TYMPANIC MEMBRANE, and the EXTERNAL EAR CARTILAGES. External Ear,Outer Ear,Ear, Outer,Ears, External,Ears, Outer,External Ears,Outer Ears
D006316 Hearing Loss, High-Frequency Hearing loss in frequencies above 1000 hertz. Hearing Loss, High Frequency,High-Frequency Hearing Loss
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000474 Alkaptonuria An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of PHENYLALANINE and TYROSINE. It is characterized by accumulation of HOMOGENTISIC ACID in the urine, OCHRONOSIS in various tissues, and ARTHRITIS. Alcaptonuria,Homogentisic Acid Oxidase Deficiency,Homogentisic Acidura,Alcaptonurias

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