Barraquer-Simons syndrome

Alternative eponyms

Related people

A rare childhood disease characterized by loss of subcutaneous fat from the face and trunk.

Description

A rare childhood disease characterized by loss of subcutaneous fat from the face and trunk. Fat deposition on the pelvic girdle and lower limbs is normal or excessive. Most frequently, onset between 5 and 15 years of age. Most affected subjects are females and some show no other abnormality, but many develop glomerulonephritis, diabetes mellitus, hyperlipidaemia, and complement deficiency. Mental retardation in some cases. Usually sporadic. Unknown aetiology.

Smith will be entered later.

We thank Jordi Peña-Casanova, MD, for correcting errors in our original entry.

Bibliography

  • S. Weir Mitchell:
    Singular case of absence of adipose matter in upper half of the body.
    American Journal of the Medical Sciences, Thorofare, N.J., 1885, 90: 105.
  • L. Barraquer Roviralta:
    Histoire clinique d'un cas d'atrophie du tissue cellulo-adipeux.
    Barcelona, 1906.
  • E. Holländer:
    Über einen Fall von fortschreitenden Schwund des Fettgewebes und seinen kosmetischen Ersatz durch Menschenfett.
    Münchener medizinische Wochenshrift, 1910, 57: 1794-1795.
  • A. Simons:
    Eine seltene Trophoneurose ("Lipodystrophia progressiva").
    Zeitschrift für die gesamte Neurologie und Psychiatrie, Berlin, 1911, 5: 29-38.

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