Hypopigmented Whorls Research Articles

Hypomelanosis of Ito: report of two cases

Hypomelanosis of Ito is a neurocutaneous disorder characterized by hypopigmented whorls, streaks and patches distributed along the lines of Blaschko, often associated with neurological and musculoskeletal abnormalities. We herein report two patients belonging to ethnic Kashmiri origin with this disorder.

Dental findings and management in a child with hypomelanosis of Ito

Abstract Hypomelanosis of Ito (HI) is a rare neuroectodermal disorder characterized by hypopigmented whorls of skin along the Blaschko lines. Mental retardation and intractable epilepsy are also commonly observed in HI. However, there are only a few published reports describing dental observations in HI patients. Here, we report the oral management and novel dental findings of a male HI patient aged 3 years and 10 months. The chief complaint was spontaneous gingival bleeding due to gingival hyperplasia induced by anticonvulsants, which was improved with plaque control and gingival massage. Numerous additional dental abnormalities were also evident, including enamel hypoplasia and large pulpal chambers.

Hypomelanosis of Ito: A rare cutaneous syndrome

Hypomelanosis of Ito, also known as Incontinentia Pigmenti Achromians of Ito (IPA), is a rare cutaneous syndrome clinically characterized by macular hypopigmented whorls, patches, and streaks either unilateral or bilateral following lines of Blaschko. These skin lesions become apparent at birth or during childhood and normally are present on the trunk, occasionally on the extremities, and rarely on the face. Most patients have multisystem involvement and may show chromosomal mosaicism, the most common being neurological, muscular, skeletal, and ocular. We present a male child of 5-years-old with hypopigmented whorls and patches along the lines of Blaschko present on both sides of the trunk since birth. The child had no other systemic abnormality. The importance of this cutaneous condition and its association with other system involvement has been emphasized in this article.

Choroid plexus papilloma in a girl with hypomelanosis of Ito

The authors report a case of choroid plexus papilloma in a girl with hypomelanosis of Ito, and they review the literature in brief. Hypomelanosis of Ito is a rare neurocutaneous syndrome characterized by cutaneous hypopigmented whorls, streaks, and patches along lines of Blaschko. Most patients exhibit CNS manifestations, including psychomotor retardation, seizures, hypotonia, and ataxia. A 6-year-old girl with hypomelanosis of Ito was referred to the authors' hospital with bilateral tumors in the lateral ventricles. The right lateral ventricle tumor was surgically removed. Immunohistochemical investigations revealed the tumor to be a choroid plexus papilloma (WHO Grade I). A chromosomal investigation revealed that the tumor tissue demonstrated a large loss of heterozygosity at chromosome 10. The case reported here serves as a reminder that de novo brain tumors may arise in patients with chromosomal mosaicism.

Hypomelanosis Ito and hemimegalencephaly

Aims: The disorder of Hypomelanosis Ito is characterized by unilateral or bilateral macular hypopigmented whorls, streaks, and patches. Neurologic impairment can be quite severe with hemimegalencephaly and/or migration disorders. Affected children often suffer from difficult to treat drug-resistant epilepsy.

Glomerulocystic kidney disease in hypomelanosis of Ito

Hypomelanosis of Ito (incontinentia pigmenti type I) was first described as a disorder characterized by unusual unilateral or bilateral cutaneous macular hypopigmented whorls, streaks and patches. Subsequently, neurologic, skeletal and ocular involvement were described. Kidney involvement has been reported only exceptionally. Here, we describe the case of a male infant with hypomelanosis of Ito with a prenatal diagnosis of bilateral enlargement of the kidneys, decreased corticomedullary differentiation and cysts located in the cortical and subcapsular regions. These findings were confirmed postnatally. The skin examination showed hypopigmented linear and round diffuse lesions located on the right leg and the arms. Ophthalmological examination showed anterior capsular and posterior subcapsular cataract of the left eye. Renal biopsy was characteristic of glomerulocystic kidney disease, whereas the skin biopsy confirmed the clinical diagnosis of hypomelanosis of Ito. Four other cases of kidney disease in hypomelanosis of Ito have been reported, including two cases characterized by cystic renal changes, indicating that gene abnormalities that cause hypomelanosis of Ito may also impair normal renal development, causing renal cystic changes.

Pigmentary dysplasias in long survivors with mosaic trisomy 18: report of two cases

We describe two patients, a 19-year-old girl and a 19-year-old boy, with mosaic trisomy 18 and pigmentary dysplasias. Both patients had profound growth and mental retardation, marked kyphoscoliosis, bushy eyebrows, bulbous nose, simple ears, and joint contractures - clinical manifestations of long survivors with mosaic or non-mosaic trisomy 18. In addition, the boy showed total asymmetry. Pigmentary dysplasias of the skin with hypopigmented whorls and streaks, initially absent or overlooked at the ages 2 and 15 years, were detected on close examination. It is advisable to check closely every long survivor with mosaic or purportedly non-mosaic trisomy 18 for pigmentary dysplasias.