Lipodystrophy progressive partialE88.1

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Barraquer-Simons Syndrome; cephalo-thoracic lipodystrophy; Dutch Simon's syndrome; Lipodystrophy cephalo-thoracic; Lipodystrophy partial; OMIM 608709; Partial lipodysthrophy; progressive lipodystrophia; Progressive partial lipodystrophy; Simon's syndrome; Simons Syndromes

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HistoryThis section has been translated automatically.

Barraquer 1906; Dutchmen 1910; Simons 1911

DefinitionThis section has been translated automatically.

Progressive, sporadically occurring form of partial lipodystrophies syndrome characterized by lipatrophy of the upper half of the body and hypertrophy of the thigh fat tissue.

Occurrence/EpidemiologyThis section has been translated automatically.

Just over 250 cases have been described so far.

EtiopathogenesisThis section has been translated automatically.

Unknown; mutations in the LMNB2 gene (19p13.3) were detected in some patients. The gene codes for lamin B2, a protein of the nuclear membrane.

ManifestationThis section has been translated automatically.

Mostly during childhood, especially female sex (m:w = 1:3); sometimes occurring after febrile infections.

Clinical featuresThis section has been translated automatically.

Symmetrical, complete loss of subcutaneous fatty tissue on the upper body and face with disfigurement due to skeletonization of the face, normal (type Laingnel-Lavastine-Viard) to increased (type Mitchell) fat pad on the lower body.

In 20% of cases insulin-resistant diabetes mellitus, in 50% association with kidney disease, often membrano-proliferative glomerulonephritis. Complement defect (selectiveC3 penetration in serum).

TherapyThis section has been translated automatically.

Causal therapies are not known. Symptomatic therapeutic measures are in the foreground, especially treatment of concomitant diseases. In exceptional cases, plastic surgery measures are necessary.

Progression/forecastThis section has been translated automatically.

Quoad vitam favourable, quoad sanationem unfavourable.

LiteratureThis section has been translated automatically.

  1. Barraquer Roviralta L (1906) Historia clínica de un caso de atrofia del tejido célulo-adiposo. Folleto, Barcelona
  2. Brongo S et al (2003) Use of dermo-adipose grafts in facial morphology restoration in cases of progressive partial lipodystrophy. Minerva Stomatol 52: 31-34
  3. Chartier S et al (1987) Partial lipodystrophy associated with a type 3 form of membranoproliferative glomerulonephritis. J Am Acad Dermatol 16: 201-205
  4. Greene AK (2001) Lluis Barraquer-Roviralta (1855-1928): Spanish neurologist described progressive lipodystrophy. Plast reconstruction surgery 107: 158-162
  5. Hagari Y et al (1992) Centrifugal lipodystrophy of the face mimicking progressive lipodystrophy. Br J Dermatol 127: 407-410
  6. Holländer E (1910) On a case of progressive loss of fatty tissue and its cosmetic replacement by human fat. Munich medical weekly 57: 1794-1795
  7. Kavanagh GM et al (1993) Juvenile dermatomyositis associated with partial lipoatrophy. J Am Acad Dermatol 28: 348-351
  8. Mitchell SW (1885) Singular case of absence of adipose matter in upper half of the body. Am J Med Sciences 90: 105
  9. Simons A (1911) A rare trophoneurosis ("lipodystrophia progressive"). Neurologist Psychiatrist (Berlin) 5: 29-38
  10. Taylor WB et al (1961) Progressive Lipodystrophy and Lipatrophic Diabetes. Arch Dermatol 84: 81-86

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Last updated on: 29.10.2020