Hypomelanosis of Ito‐Whorled Hyperpigmentation Combination: A Mirror Image Presentation

Abstract

We hereby report a 2-year-old boy who presented with a peculiar combination of hyperpigmented and hypopigmented skin lesions along the lines of Blaschko, sharply demarcated at the midline, both on the anterior and posterior trunk. Although combinations of hyperpigmented and hypopigmented skin lesions distributed along the lines of Blaschko have been described, the combination of skin lesion comprised hypomelanosis of Ito and whorled hypermelanosis distributed in the extremely unusual manner described in this patient has not been reported previously.

Linear and Whorled Nevoid Hypermelanosis and Axenfeld-Rieger Anomaly: A Novel Association

“…There are plenty of genes regulating skin pigmentation, several mechanisms capable of changing the phenotypic expression of melanocytes as well as a wide spectrum of pigmentary alterations (9). All these facts, including cases of coexistence of LWNH and Ito hypomelanosis, and of cutis tricolor, led some authors to create the term "pigmentary mosaicism" to include all of thctn (10,11). There are also more pigmentary patterns described in patients with pigmentary mosaicism, such as phylloid pattern, patchy pigmentation without midline separation and checkboard pattern (12).…”

Disorders of pigmentation

“…351 The coexistence of hypomelanosis of Ito and incontinentia pigmenti in the same family, even though disputed by a subsequent author, 352 and the report of several patients with a preceding erythematous or verrucous stage 353,354 have led several authorities to postulate a link between these two conditions. 355 Other features of hypomelanosis of Ito include a female preponderance, a tendency for lesions to become somewhat pigmented in late childhood, a family history in a few cases, 356 and the coexistence in a high percentage of patients of abnormalities of the central nervous system (particularly seizures and mental retardation), eyes, hair, teeth, and musculoskeletal system. The coexistence of hypomelanosis of Ito and whorled hypermelanosis has been reported.…”

Linear and whorled naevoid hypermelanosis in a patient with trisomy 4 mosaicism

“…It is pathogenetically related to LWNH, as both disorders are considered to be expression of pigmentary mosaicim, leading to proliferation and migration of two mixed lineages of melanocytes with different potentials for pigment production concentration and distribution of melanosomes . Co‐occurring LWNH, HI, and cutis tricolor have been reported in the same individual, further reinforcing the concept that these disorders are not single entities, but rather conditions on a disease spectrum (Table ) …”