Hypomelanosis of ITO. A study of 76 infantile cases

Pascual-Castroviejo, I; Roche, Carmen; Martínez-Bermejo, A; Arcas, J; López-Martín, V; Tendero, Adrián; Esquiroz, Jose L.H; Pascual, Pascual

doi:10.1016/s0387-7604(97)00097-1

Cited by 105 publications

(65 citation statements)

References 63 publications

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“…They had no family history of HI and no psychomotor developmental delay, which is more frequent in the exceptional cases of familial HI. [8][9][10] Genetic counseling is different in the case of HI as, unlike IP, it is frequently related to chromosomal anomalies. 11 Orofacial-digital syndrome was diagnosed in a girl who presented with linear hyperpigmentation and hypopigmentation, microcephaly, cleft palate, ear abnormalities, coloboma of the optic nerve, and interventricular communication.…”

Section: Commentmentioning

confidence: 99%

Clinical Study of 40 Cases of Incontinentia Pigmenti

Hadj‐Rabia

Froidevaux²,

Bodak³

et al. 2003

Arch Dermatol

172

173

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Section: Commentmentioning

confidence: 99%

Clinical Study of 40 Cases of Incontinentia Pigmenti

Hadj‐Rabia

Froidevaux²,

Bodak³

et al. 2003

Arch Dermatol

172

173

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“…Cardiovascular manifestations of HI are extremely rare and are mostly associated with atrial or ventricular septal defects. 2 To the best of our knowledge, this is the first report of an aortic malformation associated with HI.…”

mentioning

confidence: 73%

Hypoplasia of the Abdominal Aorta and Hypomelanosis of Ito

et al. 2009

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A 4-year-old girl with hypomelanosis of Ito (HI) was referred to the cardiologist for an absence of pulses in the lower extremities. Medical history included hydrocephalus treated with ventriculoperitoneal shunt and congenital glaucoma. She always remained asymptomatic. Physical examination showed upper-body hypertrophy and a repeatedly measured systolic pressure difference between the upper and lower extremities of 35 mm Hg. Contrastenhanced multidetector computed tomography ( Figure 1) showed aortic hypoplasia immediately distal to the origin of renal arteries. Three-dimensional reconstruction obtained from contrast-enhanced multidetector computed tomography (Figure 2) revealed an abrupt diameter reduction in the aorta below the renal arteries. The aorta was divided into very small vessels to supply the lower extremities, mimicking a "pseudo-cauda equina." Despite these findings, patient has remained asymptomatic during follow-up, without hypertension and with good exercise tolerance.HI is a multisystemic neurocutaneous disease associated with genetic disorders such as mosaicism or transloca- Multiple small vessels arise to irrigate the lower extremities (white arrows), mimicking a pseudo-cauda equina. The asterisk points out the ventriculoperitoneal shunt.

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“…In the same manner, Bioxeda et al 5 reported that 26% of the patients with BFCM had epilepsy, compared with 14% of those with unilateral lesions. The fact that BFCM is associated with a higher percentage of LA may account for the higher percentage of BFCMs observed in series of patients with Sturge-Weber syndrome: between 25% and 41% according to Fritsch et al, 7 Pascual-Castroviejo et al, 8 and Uram and Zubillaga. 9 In our series, the frequency of brain anomalies on both hemispheres was 22%, which is similar to the frequency of 23% reported by Pascual-Castroviejo et al 10 in 40 patients with Sturge-Weber syndrome who had BFCM.…”

Section: Commentmentioning

confidence: 95%

“…Conversely, a direct relationship has been established be- tween the presence of LA in both cerebral hemispheres and the severity of clinical disorders. 8 Because LA is often bilateral in those with BFCM, the prognosis is worse.…”

Section: Commentmentioning

confidence: 99%