Showing papers on "Incontinentia pigmenti published in 1997"
TL;DR: This review focuses on the clinical features of these disorders as well as recent advances in the field of Vesicular and pustular disorders in the neonate.
Abstract: Vesicular and pustular disorders are common in the neonatal period. Most are benign, but several serious infectious and noninfectious diseases can present in the neonate. This review focuses on the clinical features of these disorders as well as recent advances in the field. The following diseases are discussed: erythema toxicum, transient neonatal pustular melanosis, miliaria, neonatal acne, eosinophilic folliculitis, mastocytosis, acropustulosis of infancy, incontinentia pigmenti, scabies, neonatal and congenital candidiasis, syphilis, neonatal herpes simplex infections, neonatal varicella, and staphylococcal infections.
41 citations
TL;DR: Two patients with cutaneous and/or visceral manifestations of incontinentia pigmenti (IP) who were initially thought to be victims of child abuse are described.
Abstract: In the United States 1.4 million children were maltreated in 1988, resulting in an estimated 2000 to 5000 deaths.1Largely due to the rising awareness and sensitivity to the horrors of child abuse, the number of deaths declined to approximately 1500 in 1993.2 Guidelines have been published to aid in the identification and management of child maltreatment,3 and reporting of all suspicious cases is mandated by law. In our zealous efforts to protect children, some families are investigated because of misdiagnosed abnormalities, often cutaneous,4 leading to the unintentional injury of both patients and their families.5 In this report, we describe two patients with cutaneous and/or visceral manifestations of incontinentia pigmenti (IP) who were initially thought to be victims of child abuse.
20 citations
TL;DR: Conservative treatment, including 2 weeks hospitalization, improved acute inflammation, but the remaining pigmentation was darker than originally seen, suggesting such treatment is contraindicated.
Abstract: SUMMARY
A 3-year-old girl with incontinentia pigmenti was referred for treatment of pigmented whorled macules on the trunk and limbs. Initially ruby laser therapy was only given to the legs. Wound healing was delayed. Two months later the patient developed extensive vesicles and erosions restricted to pigmented macules in both treated and untreated areas. Conservative treatment, including 2 weeks hospitalization, improved acute inflammation, but the remaining pigmentation was darker than originally seen. The apparent reappearance of an early cutaneous manifestation of this syndrome, seemingly triggered by laser therapy, would suggest such treatment is contraindicated.
20 citations
TL;DR: Findings suggest that incontinentia pigmenti should be included among the neurocutaneous syndromes associated with ischemic strokes in childhood.
Abstract: A 2-month-old girl with incontinentia pigmenti presented with acute-onset right-handed focalized seizures and subsequent seizure generalization. Computed tomography, magnetic resonance imaging and single photon emission computed tomography results indicated that she had multiple cerebral infarctions. These findings suggest that incontinentia pigmenti should be included among the neurocutaneous syndromes associated with ischemic strokes in childhood. This is the first report of a case with incontinentia pigmenti associated with cerebral infarction evaluated by single photon emission computed tomography.
17 citations
TL;DR: Optic disk neovascularization is another notable retinal manifestation of incontinentia pigmenti and retinal ablation should be considered as treatment when it is detected.
16 citations
TL;DR: Investigation found vortex (whorl-like) epithelial keratitis characterized by epithelial microcysts that stained with fluorescein and midstromal radial mild haziness in daughters of a family with incontinentia pigmenti.
14 citations
TL;DR: A locus for the X-linked dominant genodermatosis incontinentia pigmenti (IP) has been linked to markers in Xq28 using 16 families, providing further evidence for a single major X- linked IP locus.
Abstract: A locus for the X-linked dominant genodermatosis incontinentia pigmenti (IP) has been linked to markers in Xq28. Here we report high lod scores for markers spanning the interval DXS52-DXYS154 using 16 families, providing further evidence for a single major X-linked IP locus.
14 citations
Journal Article•
TL;DR: The case of the association of three uncommon diseases in a young woman: incontinentia pigmenti, portal hypertension due to hepatoportal sclerosis, and liver adenomatosis, which hypothesize that the adenomas could be secondary to changes in hepatic vascularisation.
Abstract: We report the case of the association of three uncommon diseases in a young woman: incontinentia pigmenti, portal hypertension due to hepatoportal sclerosis, and liver adenomatosis. Incontinentia pigmenti is a hereditary genodermatosis with pigmentary cutaneous lesions and dysmorphic malformations. In our patient, among liver abnormalities, there were blood biochemical alterations, portal hypertension, and initially neo hepatic nodular lesions. Histological examination of the surgical liver specimen showed several adenomas and fibrosis of the portal tracts with portal vascular changes. The etiopathogenic nature of the adenomatosis and hepatoportal sclerosis is unclear. As a general rule, hepatic adenomatosis is associated with normal liver. We hypothesize that the adenomas could be secondary to changes in hepatic vascularisation.
9 citations
5 citations
Journal Article•
TL;DR: The date of the miscarriage of affected males (the beginning of the second trimester) and the role of a cystic hygroma for the diagnosis of incontinentia pigmenti in this mother of a fetus karyotypes 46,XY are discussed.
Abstract: We report a family with incontinentia pigmenti. One affected woman had seven pregnancies, seven miscarriages; a prenatal diagnosis by molecular biology was undertaken in the last four cases (two males, two females). In the last two males, a miscarriage occurred at the beginning of the second trimester with cystic hygroma in a case. In the first two males a miscarriage was observed also at the beginning of the second trimester after chorionic biopsy or amniocentesis. These two miscarriages would not be a complication of prenatal diagnosis but spontaneous abortion of an affected male. The date of the miscarriage of affected males (the beginning of the second trimester) and the role of a cystic hygroma for the diagnosis of incontinentia pigmenti in this mother of a fetus karyotyped 46,XY are discussed.