Neurocutaneous Syndrome

 
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Question :
Spoorthi Jagadish, Tanavi Ghadage
Department of Pediatrics, Sir JJ Group of Hospitals, Mumbai, India

Address for Correspondence: Dr Spoorthi Jagadish, Thejas J B Lobo Road, Kodikal, Mangalore, Karnataka, India. Email: spoojagadish@gmail.com
A two year old boy born of a third degree consanguineous marriage, came with complaints of developmental delay and abnormal skin lesions, noticed since birth. There was no similar family history. Antenatal history was uneventful. On examination, he had hypertelorism, high arched palate, delayed dentition, pectus carinatum, genu valgum with knock knees, hypotonia and peculiar skin lesions all over the body, characterized by multiple asymmetrical hypopigmented whorls, streaks and reticular patches on trunk, upper and lower limbs.

What is the diagnosis_?
Expert Opinion :
Hypomelanosis of Ito. It is a rare neurocutaneous syndrome with hypopigmented whorls of skin along the Blaschko lines {1}, first described by Ito in 1951 {2} with a female: male ratio of 2:1 and no racial predilection. It was earlier also known as incontinent pigmenti achromians, because it appears as the negative image of incontinent pigmenti. The varied phenotype is probably due to genetic mosaicism. {3} Sporadic mutations also contribute to it. It is present at birth, or soon after and is classically described as hypochromic lesions in distinctive patterns {e.g. whorls, patches, streaks}. The lesions may be unilateral {46 percent} or bilateral and usually show a midline cutoff mostly on the ventral surface of the trunk and flexor surface of the limbs and are easily demonstrable by wood lamp examination. The skin lesions may later become pigmented and blend with the rest of the skin. It is associated with various other congenital abnormalities with mental retardation and seizures being the most commonly reported in literature. {4} Other abnormalities include hypertelorism, visual disturbances, cleft palate and lip, anodontia, renal anomalies, various musculoskeletal malformations like scoliosis, limb hypertrophy and syndactyly. Neuro imaging should be done to rule out associated structural abnormalities. There is no specific treatment and comprises of management of co-morbidities by a multidisciplinary approach. Traditional depigmenting agents {e.g. hydroquinone, corticosteroids, kojic acid} may be used. {5}
References
1. Nehal KS, PeBenito R, Orlow SJ. Analysis of 54 cases of hypopigmentation and hyperpigmentation along the lines of Blaschko. Arch Dermatol. 1996`132:1167-1170
2. Ito M. A singular case of naevus depigmentosus systematicus bilateralis. Jpn J Dermatol. 1951`61:31-32
3. Gupta S, Shah S, Mcgaw A, Mercado T, Zaslav AL, Tegay D. Trisomy 2 mosaicism in hypomelanosis of Ito. Am J Med Genet A. 2007`143A:2466-2468
4. 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
5. Zhu W, Gao J. The use of botanical extracts as topical skin-lightening agents for the improvement of skin pigmentation disorders. J Investig Dermatol Symp Proc. 2008`13:20-24

Correct Answers : yes  13%

Last Shown : Jul 2014
 
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