A universally applicable clinical classification of lymphedema.

A simple classification of lymphedema is presented that is based solely on clinical observation. It is suggested that the universal use of such a classification would facilitate the collection of meaningful epidemiologic data and would make possible understandable comparisons of the effectiveness of various treatment modalities.

Mapping of primary congenital lymphedema to the 5q35.3 region.

Primary lymphedema is a chronic tissue swelling, most frequently of the lower limbs, resulting from deficient lymphatic drainage. The variability of the affected phenotype, incomplete penetrance, lack of large families, and possible genetic heterogeneity have hampered the identification of causative genes until now. We carried out a genomewide search, using a four-generation North American family with dominantly inherited primary congenital lymphedema (PCL), otherwise known as "Milroy disease," or "hereditary lymphedema type I" (MIM 153100). Linkage to markers from the 5q35.3 region in this and four additional, British families was established. A minimum of 79 directly scorable haplotypes (37 affected) in five families conspicuously segregated with the most telomeric region of 5q35.3, thus suggesting a major locus for PCL in this vicinity. No recombination was observed with D5S408 (Z = 10.03) and D5S2006 (Z = 8.46) with a combined multipoint score of 16.55. While D5S2073 and WIAF-2213 defined the upper centromeric boundary, no recombinants were obtained for the last telomeric marker of D5S2006. Four unaffected subjects were identified as gene carriers and provided an estimated penetrance ratio of.84 for this condition. A few of the positionally mapped genes in the 5q35 region that may potentially be involved in the etiology of this condition are CANX, FGFR4, HK3, and hnRPH1.

Successful embolization of multiple AV foot lesions--a case history.

A 39-year-old white female with multiple arteriovenous malformations of the left foot had had surgical ligation on her left dorsalis pedis artery at age 12 with no clinical improvement. She was placed into a leotard at age 16 and was able to function but would tire very easily and her left foot was twice the size of her right one. In May 1988, she had four large feeder vessels off the posterior tibial artery and two off the anterior tibial artery embolized by use of 1,000 microns PVA particles, occlusive spring coils, and detachable balloons. Her foot shrunk and is now smaller than her normal right foot; she does not tire, and she now wears a knee length stocking to help prevent other channels from opening.

Hemolymphangioma in a neonate--a therapeutic problem--case history.

The authors present the case of a one and one-half-day-old child with a 4 X 5 cm hemolymphangioma of the left lower extremity. The mass was a violaceous, protuberant, compressible tumor covered with distended peau d'orange skin. A pressure dressing was applied to the lesion, and it was made certain that the blood supply to the foot was not cut off. The lesion began to resolve within a week and over the next few months; however, pressure may need to be continued for her lifetime. The patient had been wearing a pressure-gradient leotard as of six months of age, but this was discontinued after two weeks because of the authors' inability to converse with the child to determine how much pressure could be safely employed. This is one example of a to date successfully treated hemolymphangioma in a neonate using a pressure dressing initially followed by combined compression therapy. The proposed mechanism of this therapy, as well as comparison with other types of therapy, is discussed.

Elephantiasis nostras--a case report.

Elephantiasis nostras, the result of chronic lymphedema, is characterized by marked edema of the affected extremity with a thickened, verrucous, pebbly appearance of the skin. The pathogenesis is thought to be related to fibroblast proliferation following impaired lymphatic drainage, leading to fibrosis and further restriction of lymph drainage with progressive edema. A case report of a patient with massive chronic lymphedema of her feet is presented.

Mossy leg--an unusual therapeutic success.

Elephantiasis verrucosa nostrum occurs when lymphatic obstruction of sufficient magnitude causes back pressure in the lymphatic channels forceful enough to produce superficial vessel dilation which has a "pebbly" or cobble-stone appearance. Unchecked this can progress to a marked verrucous or mossy appearance, frequently complicated by infection, with swelling and gross deformity. The patient presented here was both post-phlebitic and post-lymphatic with significant deformity. He showed dramatic improvement on a regimen of antibiotics and elevation followed by decompression and routine use of pressure-gradient support garments. This has not recurred and he has remained under control since 1979.

Necrobiosis lipoidica: treatment with porcine dressings, split-thickness skin grafts and pressure garments. A case report and review of treatment modalities.

A 39-year old nondiabetic female had severely ulcerated necrobiosis lipoidica of the legs which was refractory to medical management for 2 1/2 years. Surgical management with porcine grafting followed by autologous split-thickness skin grafts successfully healed these ulcerations. With the use of custom-fitted contoured pads and pressure gradient stockings, the grafts have remained intact for 2 1/2 years, and there has been significant improvement of the nonulcerated plaques.

Lipedema--the non-lymphatic masquerader.

Two cases of lipedema are presented. They illustrate this clinical syndrome which occurs almost exclusively in women and presents as grossly enlarged legs, thighs and buttocks. The etiology remains uncertain. Although infrequently diagnosed, lipedema is not rare. We report success treating such patients with properly measured and fitted compression garments.