Cas 930058

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Garçon de 8 ans de parents consanguins, se présente pour une glycosurie, avec l'aspect clinique particulier (voir ci-dessous).

  8 yo boy, with glucosuria, with the following clinical presentation (see below). Parents consanguinous.  
  Biopsie cutanée de la jambe.   Skin biopsy from the leg.  

Aspects cliniques du tronc, main, et de la jambe.

Clinical aspect of the trunk, hand, and leg.

  Hypoderme   PAS  

Diagnostic proposé:









Acanthosis nigricans avec lipoatrophy compatible avec le syndrome de Lawrence-Seip.


Proposed diagnosis:









Acanthosis nigricans with lipoatrophy consistent with the Lawrence-Seip syndrome.


Arguments (cliquez sur le texte en gras)

L'acanthosis nigricans se manifeste cliniquement par des plaques veloutées brunâtres, souvent localisées dans les régions axillaires, la nuque, et autres zones de flexion. Deux formes majeures existent, l'une associée des pathologies tumorales malignes d'organes profonds (particulièrement le tube digestif), et l'autre à un groupe hétérogène de pathologie ayant en commun une résistance tissulaire à l'insuline. Ce dernier comprend le diabète, l'obésité, et le Syndrome de Cushing. Microscopiquement, les aspects sont similaires dans les deux groupes, et se caractérise par une papillomatose, et une hyperkératose (et non une acanthose avec hyperpigmentation comme le nom l'indique). Dans les cas associés avec une pathologie tumorale, la maladie serait la résultante d'une production de facteurs de croissance épidermique par les cellules tumorales.

Lipoatrophie (voir région du creux sus-claviculaire, image clinique) et dans l'hypoderme (image microscopique), hyperptrophie des extremités, et légère hypertrichose.


(click on highlighted in the text)

Acanthosis nigricans manifests clinically as brown, velvety plaques most often found in the axillae, back of the neck, and other flexural areas. Two major forms exist, one associated with internal malignant neoplasms (particularly of the gastrointestinal tract) and the other with a heterogeneous group of disorders having as common denominator the presence of tissue resistance to insulin. The latter form includes diabetes, obesity, and Cushing's syndrome. Microscopically, the changes are similar in both types and are characterized by papillomatosis and hyperkeratosis (rather than by acanthosis and hyperpigmentation, as suggested by the name). In the cases associated with malignancy, the disease may be the result of production of epidermal growth factors by the tumor cells.

(From Ackerman's Surgical Pathology, 7ed)

Lipoatrophy (see neck region in the clinical image), and hypodermis in microscopic images. extremity hyperptrophy, and slight hypertrichosis.



Lipodystrophy, Generalized (From eMedecine)

Camila K Janniger, MD, Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, New Jersey Medical School

Generalized lipodystrophy syndrome is the association of acanthosis nigricans (AN) with the generalized complete absence of subcutaneous fat and the presence of muscle hypertrophy, hyperlipemia, diabetes mellitus, and hepatosplenomegaly with cirrhosis. Two forms of this syndrome exist, acquired and congenital.

A number of syndromes are associated with AN. Of special interest are those linking diabetes mellitus with AN. In 1946, Lawrence described a 26-year-old English woman who first was observed with yellowish xanthomatosis of her arms, knees, and neck of a 2-month duration. She had classic diabetic symptoms for 9 months. Laboratory examination confirmed glucosuria without ketonuria and hyperlipemia. Over the next 3 years, a complete generalized loss of subcutaneous fat developed that began focally in the lower extremities. At this time, the patient had severe diabetes mellitus unassociated with ketosis, hepatosplenomegaly with hepatic cirrhosis, and hypermetabolism without signs of Graves disease.

In 1959, Seip described a similar congenital syndrome, but without diabetes mellitus, in 3 young Norwegian children. Two of the patients were siblings and the products of consanguinity. The 3 patients exhibited rapid growth with advanced bone age, dilation of the cerebral ventricles, hepatosplenomegaly with cirrhosis, generalized muscular overdevelopment, hypertrichosis, hypertension, punctate corneal opacities, and brownish pigmentation over the flexural creases. In 1960, Schwartz and coworkers first associated AN with the congenital syndrome described earlier, and since then, many more patients have been described. This entity is now known as generalized lipodystrophy or Lawrence-Seip syndrome. This syndrome is clearly distinct from those of partial lipodystrophy.

Some divide generalized lipodystrophy into a congenital and an acquired form, with Lawrence-Seip syndrome being acquired generalized lipodystrophy and Berardinelli-Seip syndrome being congenital generalized lipodystrophy.

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Abstracts on Syndromes with Lipodystrophy and Acanthosis Nigricans