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Cutaneous manifestations and massive genital involvement in Hennekam syndrome.

We describe a 16-year-old boy with intestinal lymphangiectasia, lymphedema of the limbs and genitalia, mild mental retardation, and facial anomalies (Hennekam syndrome) and cutaneous lesions. Severe edema in the genital area created a gigantic mass that included the scrotum and penis. Numerous grouped red-violaceous pseudo-vesicular lesions and plaques, as well as verrucous brown papules, were present on the penis and scrotum. The prepuce was hypertrophic, with severe phimosis. Histologic analysis revealed dilated lymphatic vessels lined by a discontinuous layer of flat endothelial cells in the papillary dermis and extending down to the reticular dermis. Dilated blood vessels were also present but no cellular abnormalities were identified. A diagnosis of superficial cutaneous lymphatic malformations was made. To the best of our knowledge, this is the first detailed cutaneous histologic investigation in a patient with Hennekam syndrome. We assume that the onset of cutaneous lesions in our patient was likely triggered by a generalized worsening of his lymphedema.

Adolescent↗

Fibrotic entrapment of the small bowel in congenital intestinal lymphangiectasia.

Congenital intestinal lymphangiectasia is a rare protein-losing enteropathy that is characterized by diarrhea and peripheral edema. This report presents a 37-yr-old woman who had suffered from recurrent diarrhea and peripheral edema since her early childhood and who was admitted for severe attacks of abdominal pain. A diagnosis of intestinal lymphangiectasia was made endoscopically, histologically, and radiographically. Laparotomy revealed complete fibrotic entrapment of the small bowel, which caused partial mechanical bowel obstruction. Surgical decortication led to recovery. To the best of our knowledge, this is the first report on fibrotic entrapment of the small bowel in a patient with long lasting intestinal lymphangiectasia.

Adult↗

Cutaneous lymphangiectases associated with severe photoaging and topical corticosteroid application.

We report an elderly patient with lymphangiectases arising within skin affected by photoaging, steroid atrophy, and inflammation. Bullous lesions appeared in several sites following a year of topical corticosteroid applications for neurodermatitis. Light and electron microscopy showed that the bullae consisted of dilated lymphatic vessels within the dermis. There was also marked nodular elastosis and attenuation of dermal collagen. We suggest that this patient's lymphangiectases resulted from abnormal structure and function of the dermis due to photoaging and steroid atrophy.

Administration, Topical↗

Ultrasonographic diagnosis--small bowel lymphangiectasia in a dog.

A 7-year-old, West Highland White Terrier had a 5-month history of diarrhea, dysorexia, and weight loss. Sonographically, there was a focal area of intestinal thickening with loss of layering. A neoplastic or severe inflammatory condition was suspected and intestinal lymphangiectasia was diagnosed histopathologically. This patient seems to be the first description of intestinal lymphangiectasia appearing as an intestinal mass.

Animals↗

Localized amyloidosis in relation to conjunctival haemorrhagic lymphangiectasia and occlusion of the orbital veins. A case report.

A patient with amyloidosis in the right bulbar conjunctiva and conjunctival haemorrhagic lymphangiectasia is presented. An orbitophlebography revealed occlusion of the superior and inferior ophthalmic veins in both orbits. A biopsy from the left bulbar conjunctiva obtained at the same time revealed conjunctival haemorrhagic lymphangiectasia but no amyloid. The possible relationship of the findings is discussed.

Adult↗

Intestinal lymphangiectasia. Long-term results with MCT diet.

The clinical course of 6 children with primary intestinal lymphangiectuasia who have been treated with low fat medium chain triglyceride-supplemented diets for between 3 and 8 years (4 for longer than 5 years) is described. Though laboratory findings indicate continuing chyle leak, evidence for long-term benefit from dietary treatment is provided by symptomatic relief while on the diet, clinical relapse upon relaxation of t,e regimen, and improvement in growth rates. In most patients the underlying lymphatic defect, and thus the need for dietary treatment, appears to be permanent.

Body Height↗

Bleeding from duodenal lymphangiectasia.

An 8 year old girl with recurrent upper gastrointestinal bleeding was found to have localised duodenal lymphangiectasia by fibreoptic endoscopy. She did not show physical signs or laboratory evidence of significant enteric protein loss. A low fat diet seemed to prevent further bleeding. Duodenal lymphangiectasia may be associated with gastrointestinal bleeding in children.

Child↗

Coeliac disease and lymphangiectasia.

Two out of 74 children with coeliac disease demonstrated severe intestinal protein loss. In both children a serial small bowel biopsy specimen showed intestinal lymphangiectasia to be also present. Intestinal lymphangiectasia is another disorder that may be associated with coeliac disease.

Celiac Disease↗