China
Africa
Explore chapters and articles related to this topic
Oculocutaneous tyrosinemia/tyrosine aminotransferase deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Oculocutaneous tyrosinemia was first described in 1967 by Campbell and colleagues [1] in a report of a patient with corneal ulcers, erythematous papular lesions on the palms and soles, and severe impairment of mental development. A number of patients have since been reported, and it is clear that impaired mental development is not a uniform feature of the disease [2–8]. Patients were described in 1938 by Richner [9] and in 1947 by Hanhart [10] with typical lesions of the eyes and skin, and this came to be known as the Richner–Hanhart syndrome, or keratosis palmaris et plantaris. It appears likely that oculocutaneous tyrosinemia and the Richner–Hanhart syndrome are the same disease, although plasma concentrations of tyrosine are not available for the original patients of Richner and Hanhart. Among the disorders in which elevated concentrations of tyrosine have been reported, this disorder appears to be a true hypertyrosinemia or tyrosine intoxication in the sense that the clinical manifestations are a consequence of the elevated levels of tyrosine. It has been referred to as “tyrosinemia type II”.
Retinoids in Keratinization Disorders
Published in Ayse Serap Karadag, Berna Aksoy, Lawrence Charles Parish, Retinoids in Dermatology, 2019
Tyrosinemia type II is characterized by well-defined and tender hyperkeratotic plaques on the palmoplantar region commonly located on the hypothenar or thenar regions, fingertips, and the weightbearing areas of the soles, resulting in impaired walking. Elbow and knee involvements with the same lesions, hyperhidrosis, leukokeratosis of the tongue, corneal erosions and ulcerations, and mental retardation can be seen. Systemic retinoids such as etretinate or acitretin, and more importantly tyrosine and a phenylamine-free diet, are recommended. The dietary regimen must be continued for the patient's entire life. Urgent dietary restrictions may stop or restrict palmoplantar lesions and eye manifestations, but mental deficiency may continue during the lifetime (61,62).
Principles of Clinical Diagnosis
Published in Susan Bayliss Mallory, Alanna Bree, Peggy Chern, Illustrated Manual of Pediatric Dermatology, 2005
Susan Bayliss Mallory, Alanna Bree, Peggy Chern
Major pointsCharacteristic thickening of the palms and soles (Figure 20.9)Three major patterns: diffuse, focal or punctuate (Figure 20.10)Can be inherited (autosomal or recessive) or acquiredCan be associated with ichthyoses or other abnormalitiesAssociated syndromes: Unna–Thost syndrome, Vohwinkel syndrome, pachyonychia congenita, tyrosinemia type II, epidermolytic hyperkeratosis, hidrotic ectodermal dysplasia, and other dermatoses such as psoriasis, atopic dermatitis, etc.
Bilateral recurrent pseudodendritic keratopathy as the initial manifestation of tyrosinemia type II
Published in Ophthalmic Genetics, 2022
Bruno Avelar Miranda, Anna Christina Higino Rocha, Rodrigo Rezende Arantes, Viviane de Cássia Kanufre, Sabrina Cavaglieri Silva, Daniel Vitor Vasconcelos-Santos
Diagnosis of tyrosinemia type II was then made. The child was immediately prescribed a tyrosine and phenylalanine-restricted diet in addition to a specific formula containing a balanced mixture of the other essential and non-essential amino acids, carbohydrates, vitamins, minerals and trace elements. Corneal lesions finally resolved after treatment, without recurrence after eight months of follow-up (Figure 1c). Two months after the treatment started, serum tyrosine level was reduced to 225.30 µmol/L and neuropsychomotor development (on Denver Developmental Screening Test II) was so far within normal limits. Neither tear nor corneal sampling was performed because the lesion regressed and the exams confirmed tyrosinemia type II when these tests were being considered.