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Keratosis palmoplantaris circumscripta Richner-Hanhart

Zuletzt geändert von Thomas Brinkmeier am 2021/06/06 17:29

Keratosis palmoplantaris circumscripta Richner-Hanhart

Syn: okulokutane Tyrosinämie

Histr: Erstbeschreibung durch Richner im Jahre 1938 und Hanhart im Jahre 1947

Ät: autosomal-rezessiver Defekt der Tyrosin-Amino-Transferase auf Chromosom 16

Man: bereits in den ersten Lebensmonaten

KL: - verruziforme Papeln mit Druckdolenz

- Photophobie

- Ulzerationen der Kornea

- neurologische und zerebrale Symptome

Lab: Tyrosinspiegel im Blut erhöht

Verl: Tendenz zur Spontanremission nur für die Palmae

Th: diätetische Maßnahmen mit Phenylalanin- und Tyrosin-armer Kost

  
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