Primary lymphedema is usually due to either a congenital absence of, or abnormalities in lymphatic tissue or it is caused by mutations in genes influencing lymphatic development(1). It can be sporadic or hereditary. Primary lympedema generally presents with a swollen extremity, most often affecting the lower extremities. A four-year-old boy with sporadic type of primary lymphedema is presented here whose symptoms have started at the age of two years with the involvement of the face and both hands and feet.

A four-year-old boy presented with non-pitting edema that involved his hands, feet and the face (Fig. 1). His family noticed the swelling at the age of two years. The amount of edema was described as increasing slowly but never showing regression. There was no family history of such edema. On physical examination, there was non-pitting, nontender, nonerythematous edema of the hands, feet and the face. The remainder of the physical examination did not reveal pathological finding.

Fig. 1. Shows facial lymphedema and symmetrical swelling of the hands and feet.

Complete blood count, sedimentation rate, urinalysis findings, liver function tests including the serum albumin concentration, renal and thyroid function tests were unremarkable. Antinuclear antibodies, antinuclear cytoplasmic antibodies, rheumatoid factor, immunoglobulin and C1 esterase inhibitor levels were also within normal ranges. The chest radiograph and abdominal ultrasound were unremarkable.

Patient’s history, physical examination and laboratory findings suggested primary lymphedema and lymphoscintigraphy revealed hypoplasic lymphatic channels both in the hands and feet.

In the present case, history, physical examination findings and exclusion of other possibilities such as recurrent lymphangitis, neoplasm, surgery or radiation suggested primary lymphedema. The majority of primary cases described in the literature have presented with unilateral lower extremity involvement. Facial and localised symmetrical four extremity involvement has been considered as an uncommon clinical finding(2,3). Interestingly, our patient had symetrically hand and feet involvement including the wrists and ankles (Fig.1). Swelling of a whole extremity was not observed. He also had face involvement that was more prominent around his eyes and the lips (Fig.1). The case was suggested as sporadic primary lymphedema because there was no family history of such edema.

In conclusion, primary lymphedema in chilhood may be sporadic. It can involve the face and four extremities symmetrically. Lymphedema should be considered in children who have progressively increasing edema that is localised, and a lympho-scintigraphic study should be performed in order to confirm the diagnosis.

Uluç Yis,
Eray Dirik,
Department of Pediatrics,
Dokuz Eylül University, Faculty of Medicine,
Izmir, Turkey
Correspondence to:
Dr. Uluç Yis,
Dokuz Eylül University Faculty of Medicine,
Department of Pediatrics 35340,
Inciralti, Izmir, Turkey.
E-mail: [email protected]

1. Smeltzer DM, Stickler GB, Schirger A. Primary lymphedema in children and adolescents: a follow-up study and review. Pediatrics 1985; 76: 206-217.

2. Wolfe JHN, Kinmonth JB. The prognosis of primary lymphedema of the lower limbs. ArcSurg 1981; 116: 1157-1160.

3. Greenlee R, Hoyme H, Witte M, Crowe P, Witte C. Developmental disorders of the lymphatic system. Lymphology 1993; 26: 156-168.