ABSTRACT
BACKGROUND: Genetics discoveries have allowed for a better understanding of capillary malformations (CMs) associated with overgrowth syndrome. However, molecular analyses are still not easy to perform or interpret. Other analytical methods are needed. OBJECTIVES: To identify clinical and haemodynamic factors associated with leg length discrepancy (LLD) in children with CMs of the lower limbs. METHODS: Data were obtained from the multicentre French national cohort CONAPE (COhorte Nationale d'enfants atteints d'Angiome Plan de membrE inférieur), from children aged 2-12 years old with CMs of the lower limbs. Clinical characteristics were prospectively collected. Haemodynamic factors were measured by an sonographer who calculated the arterial blood flow (ABF) in both lower limbs. An ABF difference ≥ 50% between the two lower limbs was considered relevant. LLD ≥ 2% was determined by the same radiologist on centralized radiographs. RESULTS: We analysed data at baseline for 96 children. The mean ± SD age was 5·6 ± 3·1 years; 49 (51%) were male; and 14 (15%) showed LLD. In total, 32 patients (33%) had venous anomalies, 13 (14%) lymphatic anomalies and in one child a diagnosis of Parkes Weber syndrome was made. Only an increased circumference above the knee was more frequent with than without LLD (43% vs. 13%, P = 0·02). In all, 10/79 patients (13%) showed a difference in ABF ≥ 50%: four had LLD. The frequency of differences in ABF ≥ 50% was greater with than without LLD [33% (n = 4/12) vs. 9% (n = 6/67), P = 0·04]. CONCLUSIONS: ABF measured by Duplex ultrasonography is a simple, low-cost and noninvasive complementary examination for help in detecting LLD, with a difference of ≥ 50% possibly associated.
Subject(s)
Blood Flow Velocity/physiology , Capillaries/abnormalities , Leg Length Inequality/physiopathology , Leg/blood supply , Vascular Malformations/physiopathology , Capillaries/physiopathology , Child , Child, Preschool , Cohort Studies , Female , Humans , Male , Prospective Studies , Risk Factors , Ultrasonography, Doppler, DuplexABSTRACT
BACKGROUND: Palmar erythema may be either congenital or acquired, hereditary or non-hereditary. Its diagnosis and management differs according to whether or not it is acquired, hereditary or associated with symptoms. Herein, we report the case of a child with hereditary palmoplantar erythema (Lane's disease). OBSERVATION: A 2½-year-old girl consulted for palmar erythema, present since birth, predominantly on the thenar and hypothenar eminences and on the palmar aspect of her fingers. She also presented mild diffuse erythema on the soles of her feet. Both her mother and grandmother had similar signs. The girl had neither impairment nor pain linked to this erythema, and she had no associated symptoms. Physical examination was otherwise normal, as were the results of standard laboratory tests. DISCUSSION: We diagnosed Lane's disease based on the girl's hereditary erythema with autosomal dominant transmission, and the congenital and asymptomatic nature of her palmoplantar erythema. Nine publications have reported cases of Lane's disease, but this condition is probably highly under-reported.