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Summary: 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. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented of extending the spectrum of AKT1 mosaicism causing Proteus syndrome in a case of a five-year-old girl who has a pigmented birthmark on her right cheek.

A 3-year-old boy with Proteus syndrome has a novel germline p.Y68D mutation of the PTEN gene inherited from his mother who has Cowden syndrome. In addition, DNA extracted from curettings of his widespread epidermal naevus shows loss of heterozygosity for this mutation. To our knowledge, this has not been described before. [ABSTRACT FROM AUTHOR]

Proteus syndrome is a rare condition comprising asymmetrical overgrowth of different parts of the body in association with various cutaneous abnormalities. We describe a 3-year-old boy with Proteus syndrome, who presented with hemihypertrophy of the right leg, asymmetric macrodactyly, subcutaneous masses and a widespread portwine stain interspersed with angiokeratomas on the right leg, scrotum and on the middle and left side of the back. Doppler ultrasound of the right leg did not show hypercirculation, but did reveal the absence of the right superficial femoral vein. [ABSTRACT FROM AUTHOR]

The article presents a case of a 22-month old baby progressive enlarging of his extremities and some skin changes. On X-ray examination, it was found that the patient has a dislocated left hip. He was also suffering from unilateral rectus abdominis agenesis and assymetrical thickening of the subepidermal tissue. The patient was diagnosed as having a proteus syndrome.

Analyzes the isolated plantar collagenoma. Characterization of plantar collagenoma; Usability of collagenoma as diagnosis marker for tuberous sclerosis; Occurrence of planta collagenomas with cerebriform appearance in Proteus syndrome.

We describe a 24-year-old woman with many of the classical features of the Proteus syndrome. In childhood she had undergone bilateral forefoot amputations because of massive bilateral cerebriform hypertrophy of the feet. Other features include abnormally large fingers on one hand, a lymphangioma circumscriptum, an epidermal naevus, prominent venous varicosities and scattered lipomas. The disorder occurs sporadically and is thought to be secondary to a postzygotic mutation that survives by mosaicism. [ABSTRACT FROM AUTHOR]

The article reports acanthosis nigricans-like epidermal naevus and Klippel-Trénaunay syndrome in 17 year old female. At the age of 2, epidermal naevi were seen of the neck and then on the face, the scalp and the arms. At age 3, the difference in the length of legs was noticed. A skin biopsy from the neck showed hyperkeratosis with marked papillomatosis and a relatively thin epidermis. The patient with the combination of an epidermal naevus and hemihypertrophy should not be classified into the Proteus syndrome as she showed a well-proprotioned hemihypertrophy.

iThe article reports the proteus syndrome in 2 years old male. Since birth, the patient has had lesions. His development was normal. There were large subcutaneous tumours on both sides of the trunk, also a naevus flammeus. Both feet showed marked disproportion with megalodactylism. A CT scan of the skull showed asymmetry. The proteus syndrome is a rare congenital hamartomatous disorder that should be differentiated from the Klippel -Trenaunav syndrome and neurofibromatosis. The aetiology is not known, but it is probably due to a mutation of a tissue growth-factor receptor.