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Year : 2017  |  Volume : 10  |  Issue : 3  |  Page : 287-289  

Is this 4-year-old female child suffering from a forme fruste of hypomelanosis of Ito?

1 Department of Paediatrics, Aminu Kano Teaching Hospital, Bayero University, Kano, Nigeria
2 Department of Nursing, Aminu Kano Teaching Hospital, Kano, Nigeria
3 Department of Family Medicine, Aminu Kano Teaching Hospital, Kano, Nigeria

Date of Web Publication19-May-2017

Correspondence Address:
Ibrahim Aliyu
Department of Paediatrics, Aminu Kano Teaching Hospital, Kano
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Hypomelanosis of ito (HI) is a multisystemic disorder characterized by cutaneous, neurologic disorder, and musculoskeletal disorder. However, there may be isolated cutaneous manifestation, resulting in diagnostic overlap with other hypopigmentary lesions such as nevus depigmentosus and hypopigmentation along the lines of Blaschko. Therefore, there is the need for generally acceptable diagnostic criteria avoiding these ambiguities. Hence, the case of a 4-year-old female child with isolated hypopigmentations characterized as whorls on the torso and as linear distribution along the lines of Blaschko is reported.

Keywords: Hypomelanosis of ito, hypopigmentation along the lines of Blaschko, nevus depigmentosus

How to cite this article:
Aliyu I, Ibrahim ZF, Michael GC. Is this 4-year-old female child suffering from a forme fruste of hypomelanosis of Ito?. Med J DY Patil Univ 2017;10:287-9

How to cite this URL:
Aliyu I, Ibrahim ZF, Michael GC. Is this 4-year-old female child suffering from a forme fruste of hypomelanosis of Ito?. Med J DY Patil Univ [serial online] 2017 [cited 2023 May 31];10:287-9. Available from:

  Introduction Top

Hypomelanosis of Ito (HI) is a multisystemic disorder characterized by the presence of cutaneous, neurologic, and musculoskeletal disorders. It was first described in 1951 by Ito.[1] Its association with neurologic anomalies was further described by Hamada et al.[2] and Pascual-Castroviejo et al.[3] However, HI may have variable presentation and a spectrum of phenotype has been described even in the family. About 30%–74% of cases may have isolated cutaneous manifestation;[4] therefore, diagnostic criteria based on its systemic nondermatologic features such as that of Ruiz-Maldonado et al.[5] are bound to exclude this category of cases. Therefore, the case of a 4-year-old Nigerian girl with dermatologic features of HI is highlighted in this communication.

  Case Report Top

A 4-year-old girl presented with fever and cough in the pediatric emergency and was treated for a lower respiratory tract infection; however, it was noticed that she had hypopigmentary skin lesions on the trunk which were in whorls and those on the back, should, and upper limb followed the distribution of the lines of Blaschko; these were nonitchy and were noticed shortly after birth. They had been increasing with the growth of the child. There was no family history of similar skin disorder. The child had being growing adequately with normal developmental milestone for age and no report of seizure. Other systemic examinations were not remarkable except for the respiratory and cutaneous findings. There were hypopigmentations on the trunk; limbs described as in whorl [Figure 1] and linear [Figure 2] patterns similar to HI. Brain and chest computed tomography scans were normal, similarly abdominal ultrasound was not remarkable. Therefore, the diagnosis of isolated cutaneous features of HI was made.
Figure 1: Hypopigmented whorls

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Figure 2: Linear hypopigmented patches

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  Discussion Top

The exact mechanism of HI is not completely understood, heterogeneous genetic abnormalities have been reported, therefore, some researchers believe HI is more descriptive than truly a clinical syndrome; furthermore, the first described case by Ito in 1952 was purely a cutaneous disease which was named “incontinentia pigmenti achromians;”[6] over the years, its association with extracutaneous anomalies was detected; this resulted in debate among researchers on whether to consider HI as a disease entity or just a phenotype [7] of a neurocutaneous syndrome. However, most common among cases of HI are chromosomal anomaly involving the X-chromosome resulting in chromosomal mosiasm and the generation of two cell lines.[8] Other forms of chromosomal anomalies associated with HI include supernumerary X-chromosome, ring fragment, ring chromosome 10, balanced X-autosome translocations, mosaic triploidy, mosaic trisomies 8, 13, 14, 18, 22, mosaic translocations, and mosaic deletions. Others are autosomal deletions and duplications involving chromosomes 7, 12, 13, 14, 15, and 18.[9] It mostly occurs as a spontaneous mutation, but familial cases with autosomal dominant mode of inheritance had been reported. Pigmentary disorders which have been associated with mosaicism include Pallister-Killian syndrome,[10] however, predominant oral, facial anomalies are often associated with it.

The cutaneous hypochromic lesion may occur at birth or shortly in infancy; they may be bilateral or unilateral with cutoff at the midline. They consist of hypopigmented whorls affecting the torso and along the Blaschko lines on the extremities; typically, sparing the face, palms, and sole; which was similar to our experience. Furthermore, more than two body segments are usually affected; our patient had three body segments involvement with pigmented borders which made nevus depigmentosus unlikely. Seizures/epilepsy and mental retardation are common neurologic features associated with HI;[11] however, these were absent in the index case. Musculoskeletal anomalies such as hemihypertrophy, scoliosis, and genu valgum [9] have been associated with HI; however, these were absent in the index case. Similarly, ocular anomalies such as tessellated fundus, unilateral heterochromic iris, opaque corneas, and strabismus; others are symblepharon, microphthalmia, macrophthalmia, and epicanthic folds have been associated with HI.[9] Other systemic abnormalities include congenital heart diseases such as ventricular septal defect and renal diseases such as proteinuria and end-stage renal diseases.[12] Isolated cutaneous manifestation of HI, nevus depigmentosus,[13],[14],[15] and hypopigmentation along the lines of Blaschko [16] often cause a great diagnostic challenge because they may present early in newborn, these lesions may all follow the Blaschko lines. Although efforts had been made to establish diagnostic criteria for nevus depigmentosus, there is still significant overlap among them. Therefore, researchers need to come to a consensus to avoid this diagnostic ambiguity.

  Conclusion Top

HI often presents with cutaneous, neurologic, and musculoskeletal manifestations. However, they may present with isolated cutaneous features as was witnessed in the index case. This may pose a diagnostic challenge as there is significant overlap with other hypopigmentary lesions such as nevus depigmentosus and hypopigmentation along the lines of Blaschko. Therefore, there is the need to establish acceptable diagnostic criteria to avoid this ambiguity.

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  References Top

Ito M. A singular case of naevus depigmentosus systematicus bilateralis. Jpn J Dermatol1951;61:31-2.  Back to cited text no. 1
Hamada T, Saito T, Sugai T, Morita Y. “Incontinentia pigmenti achromians (Ito)”. Arch Dermatol 1967;96:673-6.  Back to cited text no. 2
Pascual-Castroviejo I, López-Rodriguez L, de la Cruz Medina M, Salamanca-Maesso C, Roche Herrero C. Hypomelanosis of Ito. Neurological complications in 34 cases. Can J Neurol Sci 1988;15:124-9.  Back to cited text no. 3
Molho-Pessach V, Schaffer JV. Blaschko lines and other patterns of cutaneous mosaicism. Clin Dermatol 2011;29:205-25.  Back to cited text no. 4
Ruiz-Maldonado R, Toussaint S, Tamayo L, Laterza A, del Castillo V. Hypomelanosis of Ito: Diagnostic criteria and report of 41 cases. Pediatr Dermatol 1992;9:1-10.  Back to cited text no. 5
Ito M. Studies on melanin XI. Incontinentia pigmenti achromians. A single case of nevus depigmentosus systematicus bilaterlis. Tohoku J Exp Med 1952;Suppl 55:57-59-104.  Back to cited text no. 6
Schwartz MF Jr., Esterly NB, Fretzin DF, Pergament E, Rozenfeld IH. Hypomelanosis of Ito (incontinentia pigmenti achromians): A neurocutaneous syndrome. J Pediatr 1977;90:236-40.  Back to cited text no. 7
Loomis CA. Linear hypopigmentation and hyperpigmentation, including mosaicism. Semin Cutan Med Surg 1997;16:44-53.  Back to cited text no. 8
Ruggieri M, Pavone L. Hypomelanosis of Ito: Clinical syndrome or just phenotype? J Child Neurol 2000;15:635-44.  Back to cited text no. 9
Guareschi E, Garavelli L, Pedori S, Di Lernia V, Grenzi L, Franchi F, et al. Dermatologic features in Pallister-Killian syndrome and their importance to the diagnosis. Pediatr Dermatol 2007;24:426-8.  Back to cited text no. 10
Assogba K, Ferlazzo E, Striano P, Calarese T, Villeneuve N, Ivanov I, et al. Heterogeneous seizure manifestations in Hypomelanosis of Ito: Report of four new cases and review of the literature. Neurol Sci 2010;31:9-16.  Back to cited text no. 11
Gatter N, Hoppe B, Nützenadel F, Waldherr R, Querfeld U. A cutaneous disease with multisystem involvement: Hypomelanosis of Ito may be associated with proteinuria, focal segmental glomerulosclerosis and end-stage renal disease. Nephrol Dial Transplant 2007;22:1796-8.  Back to cited text no. 12
Abdullah L, Abbas O. Dermacase. Can you identify this condition? Nevus depigmentosus. Can Fam Physician 2011;57:682, 684.  Back to cited text no. 13
Lee HS, Chun YS, Hann SK. Nevus depigmentosus: Clinical features and histopathologic characteristics in 67 patients. J Am Acad Dermatol 1999;40:21-6.  Back to cited text no. 14
Lee DJ, Kang HY. Is spontaneous disappearance of nevus depigmentosus possible? Ann Dermatol 2012;24:109-11.  Back to cited text no. 15
Nehal KS, PeBenito R, Orlow SJ. Analysis of 54 cases of hypopigmentation and hyperpigmentation along the lines of Blaschko. Arch Dermatol 1996;132:1167-70.  Back to cited text no. 16


  [Figure 1], [Figure 2]


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