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Familial multiple lipomatosis - Dermatology Online Journal


									Title: Familial multiple lipomatosis
Authors: Brian R Toy MD
Citation: Dermatology Online Journal 9(4): 9
Affiliations: From the Ronald O. Perlman Department of Dermatology, New
York University
Familial multiple lipomatosis is a rare hereditary syndrome with a
proposed autosomal-dominant inheritance. A case of an 89-year-old man
with this disease is presented, along with his pedigree. Clinical
features, genetic evidence, and treatment options are reviewed.
I: Clinical summary

<I>History.</I>&#151;An 89-year-old man presented to the Dermatology
Service of the Department of Veterans Affairs New York Harbor Health Care
System for a total body skin examination. Approximately 70 years ago, the
patient noted the development of multiple nontender nodules on the trunk
and upper extremities. These lesions were slow-growing and became more
numerous with age. In fact, he was nicknamed "Lumpy" while serving in the
United States Navy during World War II.

Past medical history includes hyperlipidemia, coronary artery disease,
and blindness in the left eye secondary to temporal arteritis.
Medications include simvastatin, lisinopril, isosorbide dinitrate, and
aspirin. Family history includes a subcutaneous disorder in multiple
relatives (refer to pedigree).

<I>Physical examination.</I>&#151;Multiple, rubbery, nontender nodules
were located on the neck, abdomen, back, and arms. The lesions were
mobile, nonfluctuant, and ranged in size from 1-6 cm.

<I>Laboratory data.</I>&#151;Total cholesterol was 202 mg/dl, LDL 133
mg/dl, HDL 50 mg/dl, and triglycerides 97 mg/dl.

<I>Diagnosis.</I>&#151;Familial multiple lipomatosis.

figure 1: 011502-2a.jpg

I: Comment
Familial multiple lipomatosis is a hereditary syndrome of uncertain
prevalence. Multiple discrete, encapsulated lipomas are found on the
trunk and extremities, with relative sparing of the head and shoulders.
The number of tumors in any one patient may vary considerably. Although
tumors usually range in size from a few millimeters to 6 cm in diameter,
lipomas as large as 25 cm have been reported. [1]. Spontaneous regression
and malignant degeneration are rare. The disease is not associated with
any abnormalities in lipid metabolism [2].

From case reports, most authors have inferred an autosomal dominant mode
of inheritance, although men are affected twice as commonly as women [1].
However, many of these reports are incomplete, as oftentimes the disease
does not manifest until after age 30.

Although multiple lipomatosis was first reported in 1846 by Brodie,
familial multiple lipomatosis was not reported until 1891 when Blashko
described a man, his brother, and several of his children with a similar
condition. In 1993 the genetic defect was isolated to chromosome 12q15,
which encodes the high-mobility-group protein isoform I-C (HMGIC) [3]. It
is now believed that this disorder results from a translocation involving
HMGIC on chromosome 12 and the lipoma preferred partner gene (LLP) on
chromosome 3 [4]. Although this condition is benign, many patients
concerned with cosmesis seek removal of individual tumors. Treatment can
include simple excision, endoscopic removal, or liposuction [5].

1. Lefell D, Braverman I. Familial multiple lipomatosis. J Am Acad
Dermatol 1986;15:275.
2. Rubinstein A, et al. Non-symmetric subcutaneous lipomatosis associated
with familial combined hyperlipidaemia. Br J Dermatol 1989;120:689.
3. Schoenmakers E, et al. Recurrent rearrangements in the high mobility
group protein gene, HMGI-C, in benign mesenchymal tumours. Nature Genet
4. Mrozek K, et al. Chromosome 12 breakpoints are cytogenetically
different in benign and malignant lipogenic tumors. Cancer Res
5. Ronan S, Broderick T. Minimally invasive approach to familial
lipomatosis. Plast Reconstr Surg 2000;106:878.

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