Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with nor

Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema.

Eur J Med Genet. 2009 Jun 19

Zechner U, Kohlschmidt N, Kempf O, Gebauer K, Haug K, Engels H, Haaf T, Bartsch O.

Institute of Human Genetics, Johannes Gutenberg University Mainz, Mainz, Germany.

We report a familial Sotos syndrome in two children, boy and girl, aged 17 and 8 years, and in their 44 year old mother, who displayed normal intelligence at adult age, but suffered from insulin dependent diabetes mellitus, bronchial asthma, and severe lipedema. The underlying missense mutation, C2175S, occurred in a conserved segment of the NSD1 gene. Our findings confirm that familial cases of SS are more likely to carry missense mutations. This case report may prove useful to avoid underestimation of the recurrence rate of SS, and to demonstrate that the developmental delay may normalize, enabling an independent life and having an own family.

Elsevier Science Direct

Massive localized lipolymphedema pseudotumor in a morbidly obese patient.

Massive localized lipolymphedema pseudotumor in a morbidly obese patient.

Lymphology. 2006 Dec

Jensen V, Witte MH, Latifi R.

Department of Surgery, University of Arizona College of Medicine, Tucson, Arizona 85724-5063, USA.

We describe a 31 year old man with a massive localized tumor-like lipolymphedema, (lipedema) a puzzling entity that afflicts the morbidly obese. The 281 kg man presented with a growing ulcerated bleeding mass located on his proximal medial thigh and suspicious for sarcoma. After en bloc resection of the 28.2 kg edematous mass, no evidence of neoplasm was found, only prominent lymphatic vessel dilation and edema with large quantities of unremarkable adipose and connective tissue. The lesion conformed to the diagnostic criteria for massive localized lipolymphedema (MLL) pseudotumor.

PMID: 17319630 [PubMed - indexed for MEDLINE]

Adipose tissue remodeling in lipedema: adipocyte death and concurrent regeneration.

Adipose tissue remodeling in lipedema: adipocyte death and concurrent regeneration.

J Cutan Pathol. 2009 Mar

Suga H, Araki J, Aoi N, Kato H, Higashino T, Yoshimura K.

Department of Plastic Surgery, University of Tokyo Graduate School of Medicine, Tokyo, Japan.

Lipedema is a disease with unknown etiology presenting as bilateral and symmetric enlargement of the lower extremities due to subcutaneous deposition of the adipose tissue. Here we describe the histopathological features of the lipedema tissue and nonaffected adipose tissue obtained from a typical patient with severe lipedema. Immunohistochemical analyses indicated degenerative and regenerative changes of the lipedema tissue, characterized by crown-like structures (necrotizing adipocytes surrounded by infiltrating CD68+ macrophages; a feature commonly seen in obese adipose tissue) and proliferation of adipose-derived stem/progenitor/stromal cells (Ki67+CD34+ cells), respectively. These findings suggested increased adipogenesis in the lipedema tissue, which may further lead to hypoxia similar to that seen in obesity, resulting in adipocyte necrosis and macrophage recruitment. The confinement to the lower extremities and the difference from systemic obesity warrants further elucidation in future studies. Suga H, Araki J, Aoi N, Kato H, Higashino T, Yoshimura K. Adipose tissue remodeling in lipedema: adipocyte death and concurrent regeneration.

Wiley InterScience

Complex decongestive physiotherapy decreases capillary fragility in lipedema.

Complex decongestive physiotherapy decreases capillary fragility in lipedema.

Lymphology. 2008 Dec

Szolnoky G, Nagy N, Kovács RK, Dósa-Rácz E, Szabó A, Bársony K, Balogh M, Kemény L.

Department of Dermatology and Allergology, University of Szeged, Hungary. szolnoky@dermall.hu

Lipedema is a disproportional obesity featuring frequent hematoma formation due to even minor traumatic injuries. On the basis of clinical observations, complete decongestive physiotherapy diminishes the incidence of hematomas due to minor injuries beyond leg volume reduction. Hematoma development may be caused by altered capillary resistance (CR) or altered capillary fragility (CF). We measured capillary fragility (CF) before and after complex decongestive physiotherapy (CDP) to examine, whether CDP could reduce CF. 38 women with lipedema were included in the study. Twenty-one (21) patients were treated with CDP and 17 using exclusively moisturizers as the control group. CDP comprised once daily manual lymph drainage, intermittent pneumatic compression and multilayered short-stretch bandaging performed throughout a 5-day-course. CF was evaluated with the vacuum suction method (VSM) using Parrot's angiosterrometer in both groups.

Decongestive therapy resulted in a significant reduction of the number of petechiae while no change was detected within the control group.

Complete decongestive physiotherapy significantly reduced CF in patients with lipedema and this reduction may lead to reduced hematoma formation.

PMID: 19306662 [PubMed - indexed for MEDLINE]

MR imaging of the lymphatic system in patients with lipedema and lipo-lymphedema.

MR imaging of the lymphatic system in patients with lipedema and lipo-lymphedema.

Lohrmann C, Foeldi E, Langer M.

Department of Radiology, University Hospital of Freiburg, Hugstetter Strasse 55, D-79106, Freiburg i. Br.,

Germany. christian.lohrmann@uniklinik-freiburg.de

OBJECTIVE: To assess for the first time the morphology of the lymphatic system in patients with lipedema and lipo-lymphedema of the lower extremities by MR lymphangiography.

MATERIALS AND METHODS: 26 lower extremities in 13 consecutive patients (5 lipedema, 8 lipo-lymphedema) were examined by MR lymphangiography. 18 mL of gadoteridol and 1 mL of mepivacainhydrochloride 1% were subdivided into 10 portions and injected intracutaneously in the forefoot. MR imaging was performed with a 1.5-T system equipped with high-performance gradients. For MR lymphangiography, a 3D-spoiled gradient-echo sequence was used. For evaluation of the lymphedema a heavily T2-weighted 3D-TSE sequence was performed.

RESULTS: In all 16 lower extremities (100%) with lipo-lymphedema, high signal intensity areas in the epifascial region could be detected on the 3D-TSE sequence. In the 16 examined lower extremities with lipo-lymphedema, 8 lower legs and 3 upper legs demonstrated enlarged lymphatic vessels up to a diameter of 3 mm. In two lower legs with lipo-lymphedema, an area of dermal back-flow was seen, indicating lymphatic outflow obstruction. In the 10 examined lower extremities with clinically pure lipedema, 4 lower legs and 2 upper legs demonstrated enlarged lymphatic vessels up to a diameter of 2 mm, indicating a subclinical status of lymphedema. In all examined extremities, the inguinal lymph nodes demonstrated a contrast material enhancement in the first image acquisition 15 min after injection.

CONCLUSION: MR lymphangiography is a safe and accurate minimal-invasive imaging modality for the evaluation of the lymphatic circulation in patients with lipedema and lipo-lymphedema of the lower extremities. If the extent of lymphatic involvement is unclear at the initial clinical examination or requires a better definition for optimal therapeutic planning, MR lymphangiography is able to identify the anatomic and physiological derangements and to establish an objective baseline.

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