A 4-year-old boy with hypomelanosis of Ito (HI) presented with a progressively growing, pulsatile neck mass. His parents denied trauma, and a physical examination showed hypopigmented cutaneous areas in the left neck, face, and chest (shown in Fig. 1) and a pulsating mass in the lower anterior neck. The CT angiography and selective angiogram showed a 12 mm × 60-mm left common carotid artery dissecting aneurysm, causing flow stagnation. The right carotid artery, vertebral arteries, and cerebral arterial circle (known as the circle of Willis) were normal. After balloon test occlusion confirmed adequate collateral flow, treatment was indicated to prevent thromboembolic events. Endovascular parent artery occlusion with coils was performed (shown in Fig. 2) and achieved aneurysm thrombosis, reducing the mass effect. He remained asymptomatic during a 1-year follow-up, with no cerebral ischemia and good exercise tolerance.

Fig. 1.

A close-up picture of the left neck and face shows unilateral cutaneous macular hypopigmented skin whorls in a linear pattern of streaks.

Fig. 1.

A close-up picture of the left neck and face shows unilateral cutaneous macular hypopigmented skin whorls in a linear pattern of streaks.

Close modal
Fig. 2.

CT angiography of the neck in coronal maximum intensity projection image (a) and 3D volume-rendering image (b) demonstrates kinking and a giant fusiform aneurysm affecting the left common carotid artery. Carotid angiography shows a dissecting aneurysm (c), while balloon test occlusion confirms adequate compensatory filling by collaterals; the endovascular treatment with distal and proximal coil deployment (d) achieves aneurysm occlusion. The patient remains asymptomatic in a 1-year follow-up.

Fig. 2.

CT angiography of the neck in coronal maximum intensity projection image (a) and 3D volume-rendering image (b) demonstrates kinking and a giant fusiform aneurysm affecting the left common carotid artery. Carotid angiography shows a dissecting aneurysm (c), while balloon test occlusion confirms adequate compensatory filling by collaterals; the endovascular treatment with distal and proximal coil deployment (d) achieves aneurysm occlusion. The patient remains asymptomatic in a 1-year follow-up.

Close modal

HI is a neurocutaneous disorder first described as incontinentia pigmenti achromians in 1952 by Minor Ito [1]. It is caused by genetic mosaicism or translocations, usually not inherited but occur during embryonic development due to postzygotic mutation [1]. Macular hypopigmented skin whorls and streaks following the lines of Blaschko characterize HI [1, 5]. Neurological manifestations include psychomotor delay, epilepsy, microcephaly, and muscular hypotonia [1]. HI may also affect the musculoskeletal system, eyes, and teeth [1, 5]. Additional manifestations encompass deafness, hemihypertrophy, precocious puberty, and genitourinary abnormalities [1]. Cardiovascular involvement is uncommon, but abdominal aortic hypoplasia and atrial and ventricular septal defects can be found [2, 3]. Neurovascular anomalies are infrequent and primarily associated with moyamoya syndrome and brain arteriovenous malformation [3, 4]. Although it is not clear whether that is an incidental finding, the concurrent occurrence of a carotid aneurysm and HI might have a syndromic relationship, which opens a new line of inquiry.

Asymptomatic carotid occlusions have a good prognosis and low ischemic stroke risk [6]. Nevertheless, long-term imaging follow-up is recommended to detect additional abnormalities.

Since neurocutaneous disorders may have heterogeneous systemic involvement, further studies are needed to confirm the possibility of carotid artery involvement in HI. In addition to conventional MR sequences, specific vascular neuroimaging should be considered for children with HI and abnormal neurological findings to prevent a misdiagnosis [7].

This study was conducted ethically following the World Medical Association Declaration of Helsinki. This retrospective review of patient data did not require ethical approval in accordance with local guidelines. Written informed consent for publication of data and images was provided and signed by the patient’s guardian.

The authors have no conflicts of interest to declare.

This research received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.

Zeferino Demartini Jr. and Gelson Luis Koppe: conception of the work; Bernardo C.A. Teixeira: acquisition of the data; Zeferino Demartini Jr., Gelson Luis Koppe, and Bernardo C.A. Teixeira: analysis and interpretation of the data, drafting of the work, critical revision of the work for intellectual content, final approval of the version to be published, and accountable for all aspects of the work and ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

All data generated or analyzed during this study are included in this article. Further inquiries can be directed to the corresponding author.

1.
Arora
V
,
Tandon
R
,
Puri
RD
,
Lall
M
,
Noorani
I
,
Suman
P
.
Hypomelanosis of Ito
.
Indian J Pediatr
.
2022
;
89
(
11
):
1117
9
.
2.
Vivas
D
,
Garcia-Guereta
L
,
Bret
M
,
Rubio
D
,
Burgueros
M
,
Gil
M
.
Images in Cardiovascular Medicine. Hypoplasia of the abdominal aorta and hypomelanosis of Ito: “pseudo-cauda equina” imaging
.
Circulation
.
2009
;
120
(
20
):
2025
6
.
3.
Rafay
MF
,
Al-Futaisi
A
,
Weiss
S
,
Armstrong
D
.
Hypomelanosis of Ito and moyamoya disease
.
J Child Neurol
.
2005
;
20
(
11
):
924
6
.
4.
Pascual-Castroviejo
I
,
Roche
C
,
Martinez-Bermejo
A
,
Arcas
J
,
Lopez-Martin
V
,
Tendero
A
.
Hypomelanosis of Ito. A study of 76 infantile cases
.
Brain Dev
.
1998
;
20
(
1
):
36
43
.
5.
Uçar
Çİ
,
Yıldırım
M
,
Sayar
Y
,
Şahin
S
,
Teber
ST
.
Hypomelanosis of Ito presenting with unilateral dilation of Virchow-Robin spaces: a case report
.
Childs Nerv Syst
.
2021
;
37
(
9
):
2931
4
.
6.
Powers
WJ
,
Derdeyn
CP
,
Fritsch
SM
,
Carpenter
DA
,
Yundt
KD
,
Videen
TO
.
Benign prognosis of never-symptomatic carotid occlusion
.
Neurology
.
2000
;
54
(
4
):
878
82
.
7.
Demartini
Z
Jr
,
Dos Santos de Alencar
G
,
Cardoso-Demartini
A
,
Sprengel
SL
,
Zanine
SC
,
Borba
LAB
.
Delayed diagnosis of intracranial aneurysm in pediatrics: the risk of misdiagnosis-a case report
.
Childs Nerv Syst
.
2021
;
37
(
10
):
3245
9
.