Zespół Haima-Munka

Zespół Haima-Munka (ang. Haim-Munk syndrome) – rzadka choroba genetyczna. Podłożem molekularnym schorzenia jest mutacja w genie CTSC kodującym białko katepsyny C. Mutacje w tym samym genie objawiają się jako zespół Papillona-Lefèvre, są to zatem schorzenia alleliczne. Jednostkę chorobową opisano po raz pierwszy w 1965 roku w małej społeczności tzw. Czarnych Żydów (Cochin) w Indiach[1]. Robert James Gorlin jako pierwszy zasugerował, że ten zespół i zespół Papillona-Lefevre są wariantami jednego schorzenia[2].

Przypisy

  1. ↑ Haim S, Munk J. Keratosis palmo-plantaris congenita, with periodontosis, archnodactyly and peculiar deformity of the terminal phalanges. „The British journal of dermatology”, s. 42–54, styczeń 1965. PMID: 14252683. 
  2. ↑ Gorlin, R. J.; Pindborg, J. J.; Cohen, M. M., Jr. Syndromes of the Head and Neck. New York: McGraw-Hill (pub.) (2nd ed.) 1976. Pp. 373-376.

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