�ber Hornhautdystrophien bei Genodermatosen unter besonderer Ber�cksichtigung der Palmoplantarkeratosen

Franceschetti, A; Thier, C. J.

doi:10.1007/bf00682385

Cited by 24 publications

(8 citation statements)

References 67 publications

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“…It is strange to note that in 1958, normal urinary amino studies were observed by Fanconi at the University of Ziirich [Franceschetti and Thier, 1961]. However, our case certainly belongs to the RHS and tyrosinemia type II.…”

Section: Commentmentioning

confidence: 83%

“…Rosa, 1938) andcase 3 (M. José, 1941) are sister and brother, as observed in 4 patients of the 7 cases of Franceschetti with RHS [Franceschetti and Thier, 1961] and in the 2 cases described by Bardelli et al [1977]. In the review of the 7 american cases with RHS and tyrosinemia type II [Goldsmith, 1978], there have been no families with more than one affected child.…”

Section: Commentmentioning

confidence: 99%

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Richner-Hanhart Syndrome and Tyrosinemia Type II

Hunziker¹

1980

Dermatology

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A patient already published as 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.

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Section: Commentmentioning

confidence: 83%

Section: Commentmentioning

confidence: 99%

Richner-Hanhart Syndrome and Tyrosinemia Type II

Hunziker¹

1980

Dermatology

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“…1). We report two cases of tyrosinemia type II, previously described as Richner-Hanhart syndrome by other authors [3,4], and attempt to make a com prehensive review of similar cases reported in the literature. …”

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confidence: 99%

Tyrosinemia Type II in Two Cases Previously Reported as Richner-Hanhart Syndrome

Balato¹,

Cusano²,

Lembo³

et al. 1986

Dermatology

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Two sibs with palmo-plantar keratosis and dendritic corneal opacities, previously described as suffering from Richner-Hanhart syndrome by other authors, about 25 years ago, showed increased plasma and urine tyrosine levels. Their neurological and mental features were within normal limits. A comprehensive review of the literature showed a total of 47 cases of fully documented tyrosinemia type II; 8 more patients also had the clinical features of the disease, but aminoacidemia had never been observed. The importance of early diagnosis is stressed, since a low tyrosine-phenylalanine diet dramatically improves the symptoms and may prevent mental retardation.

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“…The transient infiltrate and the pannus in 1 case [15] were probably secondary changes and not directly related to KF. Whether the peculiar, arcus-lipoides-like opacifications in the peripheral cornea in 2 other cases [9,16] were related to KF could not be elucidated by the authors. Blackman et al [9] examined 21 patients with KF.…”

Section: Discussionmentioning

confidence: 70%

Ocular Involvement in Keratosis Follicularis Associated with Retinitis Pigmentosa

Daicker

1995

Ophthalmologica

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In 1988, Itin et al. published the combination of keratosis follicularis (KF; Darier-White disease), an autosomal-dominantly transmitted genodermatosis, and retinitis pigmentosa (RP) in two brothers. One of these patients died unexpectedly at the age of 54 years. His eyelids and globes were histologically studied post mortem. Involvement of the eyelids has rarely been described clinically and not at all histologically. The skin and the intermarginal zone of the lids exhibited the typical changes of this cutaneous disease involving the follicles of the eyelashes. Focal keratinizations of the limbal conjunctiva, a regional increase in conjunctival goblet cells and a diffuse thickening of the basement membrane of the corneal epithelium were present. They are probably not specific for KF. The retinal findings were those of a typical late stage of RP. The combination of both genetically transmitted disorders could point to a damage in neighbouring gene loci. An abnormality of the metabolism of vitamin A was supposed to play a pathogenetic role in both diseases but remains speculative, as does a genetic linkage.

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�ber Hornhautdystrophien bei Genodermatosen unter besonderer Ber�cksichtigung der Palmoplantarkeratosen

Cited by 24 publications

References 67 publications

Richner-Hanhart Syndrome and Tyrosinemia Type II

Richner-Hanhart Syndrome and Tyrosinemia Type II

Tyrosinemia Type II in Two Cases Previously Reported as Richner-Hanhart Syndrome

Ocular Involvement in Keratosis Follicularis Associated with Retinitis Pigmentosa

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