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里什纳-汉哈特综合征与Ⅱ型酪氨酸血症

Richner-Hanhart syndrome and tyrosinemia type II.

作者信息

Hunziker N

出版信息

Dermatologica. 1980;160(3):180-9. doi: 10.1159/000250493.

DOI:10.1159/000250493
PMID:6446465
Abstract

A patient already published a case of Richner-Hanhart syndrome (RHS) (stabilized corneal lesions and hyperkeratotic lesions on the palms and soles) proved to be associated with tyrosinemia type II. 2 other cases (sister and brother) with only typical dermatologic features of RHS and tyrosinemia type II are described. The treatment with a low phenylalanine and tyrosine diet improves the cutaneous lesions in our 3 cases.

摘要

一名患者已发表了一例Richner-Hanhart综合征(RHS)(角膜病变稳定,手掌和脚底有角化过度病变),经证实与II型酪氨酸血症有关。本文描述了另外2例(姐弟)仅有RHS典型皮肤特征及II型酪氨酸血症的病例。采用低苯丙氨酸和酪氨酸饮食治疗改善了我们这3例患者的皮肤病变。

相似文献

1
Richner-Hanhart syndrome and tyrosinemia type II.里什纳-汉哈特综合征与Ⅱ型酪氨酸血症
Dermatologica. 1980;160(3):180-9. doi: 10.1159/000250493.
2
Pseudodendritic keratitis and systemic tyrosinemia.
Ophthalmology. 1981 Apr;88(4):355-60. doi: 10.1016/s0161-6420(81)35036-2.
3
Tyrosinemia type II in two cases previously reported as Richner-Hanhart syndrome.
Dermatologica. 1986;173(2):66-74. doi: 10.1159/000249221.
4
Tyrosinemia type II with incomplete Richner-Hanhart's syndrome.伴有不完全性里什纳-汉哈特综合征的Ⅱ型酪氨酸血症。
Int J Dermatol. 1988 Jan-Feb;27(1):43-4. doi: 10.1111/j.1365-4362.1988.tb02336.x.
5
Tyrosinemia without liver or renal damage with plantar and palmar keratosis and keratitis (hypertyrosinemia type II).无肝脏或肾脏损害但伴有掌跖角化病和角膜炎的酪氨酸血症(II型高酪氨酸血症)
Helv Paediatr Acta. 1979 May;34(2):177-83.
6
Familial tyrosinaemia with eye and skin lesions. Presentation of two cases.
Ophthalmologica. 1977;175(1):5-9. doi: 10.1159/000308631.
7
[4 cases of Richner-Hanhart syndrome (tyrosinemia type II) with neurological symptomatology in a Yugoslav family].
Hautarzt. 1988 Mar;39(3):149-54.
8
[Tyrosinemia and Richner-Hanhart syndrome (an autosomal recessive hereditary metabolic disease of childhood with bilateral dendritic pseudokeratitis, keratosis palmaris et plantaris and mental deficiency)].
Ber Zusammenkunft Dtsch Ophthalmol Ges. 1978(75):649-54.
9
[A case of Richner-Hanhart syndrome (tyrosinosis with ocular, cutaneous and mental manifestations].
J Fr Ophtalmol. 1979 Jan;2(1):23-8.
10
Richner-Hanhart syndrome (tyrosinemia type II). Case report and literature review.里什纳-汉哈特综合征(Ⅱ型酪氨酸血症)。病例报告及文献综述。
Ophthalmic Genet. 1995 Mar;16(1):21-6. doi: 10.3109/13816819509057850.

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J Inherit Metab Dis. 2012 Mar;35(2):263-8. doi: 10.1007/s10545-011-9394-5. Epub 2011 Nov 9.
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Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus.
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