Versuch einer klinisch-genetischen Klassifikation der hereditären Palmoplantarkeratosen unter Berücksichtigung assoziierter Symptome

Franceschetti, A.; Schnyder, U. W.

doi:10.1159/000255311

Cited by 43 publications

(8 citation statements)

References 6 publications

(6 reference statements)

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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: 85%

“…suffered, although less severely, from similar hyperkeratotic skin lesions, which had ap peared at the age of about 10 years. Since the age of 20, central dendritic keratitis of both eyes, possibly symptom-free up to that time [3], started causing pho tophobia, redness and pain. Neurological and mental findings were within normal limits, but the patient was showing a slight behavioral instability.…”

Section: Case Reportsmentioning

confidence: 99%

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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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mentioning

confidence: 85%

Section: Case Reportsmentioning

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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“…As far as our 2nd case is concerned, this case could be classified as either inherited ty losis [2] or KPSL type II [3] according to the mode of inheritance and clinical picture. In case of inherited tylosis, both palmar and plantar lesions are diffuse hyperkeratosis.…”

Section: Discussionmentioning

confidence: 99%

2 Cases of Hereditary Palmoplantar Keratoderma

Tezuka¹

1984

Dermatology

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2 cases of hereditary palmoplantar keratoderma (Unna-Thost type and keratosis palmoplantaris striata s. linearis type) are reported. In the former, moderate hyperkeratosis and a partial decrease in the stratum granulosum were histologically seen. Keratohyalin granules in the uppermost cell layer of the stratum granulosum were positively stained with the Pauly reagent, though the stratum granulosum consisted of three or four cell layers in the hematoxylin-eosin-stained specimen. Electron microscopically, keratohyalin granules in the lower two or three cell layers of the stratum granulosum were less electron-dense than normal and were granular in appearance, but those in the uppermost cell layer were normal in electron density and in appearance. This case indicates that human keratohyalin granules could consist of a less electron-dense component and an electron-dense amorphous component, and the Pauly-positive substance could be electron-dense and amorphous, and the basophilic material in the hematoxylin-eosin specimen could be less electron-dense and granular under electron microscopy. In the latter, remarkable orthokeratotic hyperkeratosis and hypergranulosis were observed. Electron microscopically, three kinds of keratohyalin-like granules were observed: (1) less electron-dense granules, the electron density of which was equivalent to that of the peripheral region of the nucleus; (2) normally electron-dense amorphous granules attached to the first type of granule, and (3) extremely less electron-dense granules with a finely granular appearance. The diameter of this finely granular material was around 21 nm and a fibrous structure was also observed in or attached to this granule.

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“…Eine Vielzahl der Palmoplantarkeratosen gehört zu den Genodermatosen [8]. Die klinische Einordnung der hereditären Palmoplantarkeratosen wird aufgrund der typischen Morphe und des Verteilungsmusters vorgenommen.…”

Section: Fallbeschreibungunclassified

Keratosis palmoplantaris maculosa seu papulosa (Davies-Colley) unter dem Bild multipler Cornua cutanea

et al. 1997

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Patient with extensive keratosis palmoplantaris maculosa seu papulosa (Davies-Colley) presented with multiple cutaneous horns. The clinical picture, the histology, the electro microscopic examination, the negative tumor screening and the viral classification in the tissue allowed the differentiation from other palmoplantar keratoses. The patient was treated successfully using a combination of acitretin with physical and chemical measures.

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Versuch einer klinisch-genetischen Klassifikation der hereditären Palmoplantarkeratosen unter Berücksichtigung assoziierter Symptome

Cited by 43 publications

References 6 publications

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

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

2 Cases of Hereditary Palmoplantar Keratoderma

Keratosis palmoplantaris maculosa seu papulosa (Davies-Colley) unter dem Bild multipler Cornua cutanea

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