Lipodystrophy progressive partial E88.1

Barraquer 1906; Dutchmen 1910; Simons 1911

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.

Just over 250 cases have been described so far.

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.

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

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).

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