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Familial partial lipodystrophy

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Title: Familial partial lipodystrophy  
Author: World Heritage Encyclopedia
Language: English
Subject: Atrichia with papular lesions, Rapp–Hodgkin syndrome, Limb–mammary syndrome, Tooth and nail syndrome, Tricho–rhino–phalangeal syndrome
Collection: Conditions of the Subcutaneous Fat
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Familial partial lipodystrophy

Familial partial lipodystrophy (also known as "Köbberling–Dunnigan syndrome"[1]) is an autosomal dominant skin condition characterized by the loss of subcutaneous fat.[2]:495

Familial partial lipodystrophy also refers to a rare condition in which there is a loss of subcutaneous fat in the upper section of the body, face to trunk, however the lower half of the body remains unaffected.

OMIM Name Locus
608600 FPLD1 (Kobberling-type, loss from extremities) ?
151660 FPLD2 (Dunnigan-type, loss from limbs and trunk) LMNA; 1q21.2
604367 FPLD3 PPARG; 7q11.23-q21.11, 3p25

Type 1 is believed to be underdiagnosed.[3]

See also

Lipodystrophy Patient Registry - register to learn from the community!

References

  1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 1541–2, 1543.  
  2. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier.  
  3. ^ Herbst KL, Tannock LR, Deeb SS, Purnell JQ, Brunzell JD, Chait A (June 2003). "Köbberling type of familial partial lipodystrophy: an underrecognized syndrome". Diabetes Care 26 (6): 1819–24.  
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