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Plantar keratoderma: a manifestation of tyrosinemia type II (Richner-Hanhart syndrome).

作者信息

Al-Ratrout Jihad T, Al-Muzian Mohammed, Al-Nazer Mona, Ansari Naseem A

机构信息

Qatif Central Hospital, Department of Dermatology, Qatif, Saudi Arabia.

出版信息

Ann Saudi Med. 2005 Sep-Oct;25(5):422-4. doi: 10.5144/0256-4947.2005.422.

DOI:10.5144/0256-4947.2005.422
PMID:16270769
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6089717/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/859a/6089717/ecf3e3dbe9e6/asm-5-422f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/859a/6089717/95541eb9c0fa/asm-5-422f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/859a/6089717/ecf3e3dbe9e6/asm-5-422f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/859a/6089717/95541eb9c0fa/asm-5-422f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/859a/6089717/ecf3e3dbe9e6/asm-5-422f2.jpg

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1
Plantar keratoderma: a manifestation of tyrosinemia type II (Richner-Hanhart syndrome).掌跖角化病:II型酪氨酸血症(Richner-Hanhart综合征)的一种表现。
Ann Saudi Med. 2005 Sep-Oct;25(5):422-4. doi: 10.5144/0256-4947.2005.422.
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[Two cases of Richner-Hanhart syndrome (oculocutaneous tyrosinemia)].[两例Richner-Hanhart综合征(眼皮肤酪氨酸血症)]
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Richner-Hanhart syndrome (tyrosinemia type II): a case report of delayed diagnosis with pseudodendritic corneal lesion.里什纳-汉哈特综合征(Ⅱ型酪氨酸血症):一例伴有假树枝状角膜病变的延迟诊断病例报告。
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9
Tyrosinemia type II in two cases previously reported as Richner-Hanhart syndrome.
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Tyrosinemia with plantar and palmar keratosis and keratitis.
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本文引用的文献

1
[New special forms of keratosis palmo-plantaris, u. a., a regularly g-dominant with systematized lipomas, furthermore 2 simple-recessive with idiocy and z. T. with corneal changes in the eye (ectodermal syndrome)].
Dermatologica. 1947;94(5-6):286-308.
2
Tyrosinemia type II: Report of the first four cases in Saudi Arabia.
Ann Saudi Med. 1998;18(5):466-8. doi: 10.5144/0256-4947.1998.466.
3
Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II.II型酪氨酸血症中新型和复发性酪氨酸转氨酶基因突变
Hum Genet. 1998 Mar;102(3):305-13. doi: 10.1007/s004390050696.
4
Richner-Hanhart syndrome: importance of early diagnosis and early intervention.
J Am Acad Dermatol. 1996 Nov;35(5 Pt 2):857-9. doi: 10.1016/s0190-9622(96)90104-8.
5
Dietetic therapy of Richner-Hanhart syndrome.里什纳-汉哈特综合征的饮食疗法。
J R Soc Med. 1993 Aug;86(8):495.
6
Painful plantar callouses and mental retardation. Tyrosinemia type II.
Arch Dermatol. 1994 Apr;130(4):507-11. doi: 10.1001/archderm.130.4.507b.
7
Painful keratoderma and photophobia: hallmarks of tyrosinemia type II.
J Pediatr. 1995 Feb;126(2):266-9. doi: 10.1016/s0022-3476(95)70558-9.
8
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.
9
Tyrosinaemia II.
Med J Aust. 1984 Aug 18;141(4):244-5. doi: 10.5694/j.1326-5377.1984.tb132765.x.
10
Richner-Hanhart syndrome (tyrosinaemia-II) (report of four cases without ocular involvement).
Br J Dermatol. 1981 Apr;104(4):469-75. doi: 10.1111/j.1365-2133.1981.tb15320.x.