Incontinentia Pigmenti in Boys: A Series and Review of the Literature
ABSTRACT Incontinentia pigmenti is a rare X-linked genodermatosis, often associated with male lethality in utero. Occurrences of this disease in boys have been reported, however, its clinical phenotype has not been well characterized. The purpose of this study was to report on additional instances of incontinentia pigmenti in boys and to review the clinical, laboratory, and molecular characteristics of all published such patients. A retrospective chart review and Medline search using the keywords incontinentia pigmenti, males, and NEMO gene was undertaken. Six new boys with incontinentia pigmenti were found in our database and 36 more were previously reported in the literature. The vesiculo-bullous stage was the most frequent clinical presentation at diagnosis (80%). Fifteen percent of patients had an initial unilateral presentation. Recurrences of this stage were noted in 16%. Stages 2 and 3 of the disease were present in only 72.5% and 75% of patients, respectively. Only 15% of the boys had a documented stage 4. Extracutaneous manifestations were also documented (30% - central nervous system manifestations, 35% - eye involvement, 30% - alopecia, 40% - teeth anomalies). Thirty two percent of boys had peripheral eosinophilia. Only five had evidence of NEMO gene mutation. The male phenotype has clinical features similar to those of the female phenotype. Unilateral presentation is a distinct occurrence in boys, especially in early stages. Anomalies are the most common extracutaneous findings, followed by eye, hair, and central nervous system abnormalities.
- International Ophthalmology Clinics 02/2008; 48(2):159-74. DOI:10.1097/IIO.0b013e3181692cd4
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ABSTRACT: Leprosy is a granulomatous disease affecting the skin and peripheral nerves caused by Mycobacterium leprae. The range of clinical forms varying from tuberculoid to lepromatous leprosy results from variations in the cellular immune response to the mycobacterium. Despite available combined drug-therapy, it continues to be a significant public health problem, carrying a strong stigma. Although recently there has been no native cases in Chile, a few imported cases have been diagnosed. We present a 56-year-old man who had lived in Paraguay for 8 years, and presented with leprosy 6 years after returning to Chile. The biology of leprosy, clinical features of the disease, current diagnostic criteria and approaches to treatment are discussed.Revista chilena de infectologia: organo oficial de la Sociedad Chilena de Infectologia 03/2008; 25(1):64-9. · 0.50 Impact Factor
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ABSTRACT: 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.Pediatric Nephrology 08/2008; 23(7):1183-7. DOI:10.1007/s00467-008-0797-y · 2.88 Impact Factor