- A dictionary of medical eponyms

Schwann's syndrome

Alternative eponyms

  • Bart-Pumphrey syndrome

Synonyms

Knuckle pads syndrome, knuckle pads-leukonychia-deafness syndrome, knuckle pads-leukonychia-sensineural deafness syndrome. Knöchelpolster-Leukonychie-Taubheits-Syndrom (German).

Related people

A congenital syndrome marked by deafness, leukonychia and knuckle pads.

Description

A congenital syndrome marked by deafness, leukonychia and knuckle pads. Keratoderma plantaris and palmarsis may also occur. Etiology unknown. It is a familial hereditary syndrome, transmitted as an autosomal dominant trait. First described in 1963 by J. Schwann based on an extensive family. Syndrome delimited in anglo-saxon literature 1967 by Robert S. Bart and Robert E. Pumphrey.

Bibliography

  • J. Schwann:
    Keratosis palmaris et plantaris cum surditate congenita et leuconychia totali unguium.
    Dermatologica, Basel, 1963; 126: 335-353. Article in German.
    [Keratosis palmaris et plantaris with congenital deafness and total leukonychia.]
  • R. S. Bart, R. E. Pumphrey:
    Knuckle pads, leukonychia and deafness. A dominantly inherited syndrome.
    New England Journal of Medicine, Boston, January 1967, 276 (4): 202-207.

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