Lipodystrophy

The primary diagnostic features of congenital generalized lipodystrophy (CGL) include a near-total lack of body fat and a marked muscular appearance from birth. Other features include acanthosis nigricans, prominent umbilicus or hernia, and an acromegalic appearance with coarse facial features and large hands and feet.

Approximately 120 patients of various ethnic backgrounds have been reported with this autosomal recessive form of lipodystrophy. The absence of fat could result from agenesis, failure of differentiation of preadipocytes, or an inability of mature adipocytes to synthesize and/or store triglycerides.

Complication with congenital generalized lipodystrophy

Patients with congenital generalized lipodystrophy are at risk of early mortality from cirrhosis and its complications, acute pancreatitis, or diabetic nephropathy. They also may develop diabetic retinopathy. Diabetes mellitus appears during the pubertal years, and pancreatic pathology reveals severe amyloidosis of the pancreatic islets with loss of b cells.

Patients with familial partial lipodystrophy, Dunnigan variety (FPLD) appear normal during childhood. During puberty, however, these patients begin to lose subcutaneous fat from the limbs and trunk, while exhibiting "increased muscularity".

This rare autosomal dominant disorder has been reported in 35 Caucasian families and one Indian family comprising approximately 200 affected individuals.

Complications with familial partial lipodystrophy

Major causes of morbidity and mortality in patients with FPLD include coronary heart disease, other atherosclerotic vascular complications, and acute pancreatitis.

ACQUIRED GENERALIZED LIPODYSTROPHY (LAWRENCE SYNDROME)

This form of lipodystrophy has been reported in approximately 50 patients and is characterized by a generalized disappearance of fat, mostly during childhood or adolescence. It is three times more common in females than males.

ACQUIRED PARTIAL LIPODYSTROPHY (BARRAQUER-SIMONS SYNDROME)

This form of lipodystrophy affects females three times more often than males and has been reported in about 200 patients. The onset usually occurs during childhood or adolescence.

Treatment and prevention for lipodystrophy

Patients with lipodystrophies have cosmetic problems that warrant judicious treatment. Facial reconstruction can be accomplished with free flaps, transposition of facial muscle, and silicone or other implants.

Etretinate and fish oil have improved acanthosis nigricans in some patients with generalized lipodystrophy.

Dietary fat should be restricted for patients with severe hypertriglyceridemia. Reduced energy intake and increased physical activity can mitigate insulin resistance. In children, however, enough energy should be provided to allow for normal growth and development.

Amyloidosis
Connective tissue naevi
Dermatofibroma
Dermatofibrosarcoma protuberans
Ehler's Danlos syndrome
Elastosis perforans serpiginosa
Keloids & hypertrophic scars
Lipodystrophy
Lipoma
Mastocytoma
Neurofibroma
Pseudoxanthoma elasticum
Reactive perforating collagenosis
Striae (stretch marks)
Eosinophilic fasciitis
Erythema multiforme
Histiocytoses
Jessner's lymphocytic infiltrate
Langerhans cell histiocytosis
Lymphocytoma cutis
Lymphomatoid papulosis
Mastocytosis
Morphoea
Non-Langerhans cell histiocytosis
Panniculitis
Reticulohistiocytosis
Sweet's disease
Systemic sclerosis
Atypical mycobacterial infection
Granuloma faciale
Granuloma annulare
Cutaneous tuberculosis
Leprosy
Pyogenic granuloma
Sarcoidosis