Lipodystrophy progressive partial E88.1

Author: Prof. Dr. med. Peter Altmeyer

Last updated on: 29.10.2020

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

History
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Barraquer 1906; Dutchmen 1910; Simons 1911

Definition
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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.

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Occurrence/Epidemiology
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Just over 250 cases have been described so far.

Etiopathogenesis
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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.

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

Clinical features
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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 (selective_{C3 penetration} in serum).

Therapy
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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/forecast
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Quoad vitam favourable, quoad sanationem unfavourable.

Literature
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Barraquer Roviralta L (1906) Historia clínica de un caso de atrofia del tejido célulo-adiposo. Folleto, Barcelona
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
Chartier S et al (1987) Partial lipodystrophy associated with a type 3 form of membranoproliferative glomerulonephritis. J Am Acad Dermatol 16: 201-205
Greene AK (2001) Lluis Barraquer-Roviralta (1855-1928): Spanish neurologist described progressive lipodystrophy. Plast reconstruction surgery 107: 158-162
Hagari Y et al (1992) Centrifugal lipodystrophy of the face mimicking progressive lipodystrophy. Br J Dermatol 127: 407-410
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
Kavanagh GM et al (1993) Juvenile dermatomyositis associated with partial lipoatrophy. J Am Acad Dermatol 28: 348-351
Mitchell SW (1885) Singular case of absence of adipose matter in upper half of the body. Am J Med Sciences 90: 105
Simons A (1911) A rare trophoneurosis ("lipodystrophia progressive"). Neurologist Psychiatrist (Berlin) 5: 29-38
Taylor WB et al (1961) Progressive Lipodystrophy and Lipatrophic Diabetes. Arch Dermatol 84: 81-86