Showing papers on "Incontinentia pigmenti published in 1995"

Intracranial Assessment of Incontinentia Pigmenti Using Magnetic Resonance Imaging, Angiography, and Spectroscopic Imaging

Abstract: Objective: To evaluate patients with incontinentia pigmenti for evidence of cerebrovascular disease using magnetic resonance imaging techniques. Design: A prospective case series of seven patients (four of whom were related) with incontinentia pigmenti using magnetic resonance imaging, magnetic resonance angiography, and multislice proton ( 1 H) magnetic resonance spectroscopic imaging. Setting: The Johns Hopkins Medical Institutions, Baltimore, Md, a tertiary, referred care center. Patients: Seven patients with a diagnosis of incontinentia pigmenti. Results: Five of the seven patients had abnormal magnetic resonance imaging consistent with small-vessel occlusions. Of these five patients, four had normal magnetic resonance angiography and spectroscopic imaging, and one patient had reduced middle cerebral artery flow on magnetic resonance angiography and increased lactate level in the cerebrospinal fluid on spectroscopic imaging. The remaining two patients had normal magnetic resonance imaging and spectroscopic imaging. Of these two patients, one had normal magnetic resonance angiography and the other had a right supraclinoid internal carotid aneurysm. There was substantial concordance between clinical (ophthalmic/neurologic) and imaging abnormalities. Conclusions: The central nervous system changes in patients with incontinentia pigmenti may represent the result of small-vessel occlusive phenomena in the brain. These central nervous system findings may share a common pathophysiologic state with the vascular occlusive disease seen in the retinas of these patients. The changes in the retinal vasculature may serve as a potential marker for central nervous system disease. Physicians should be aware of the systemic and debilitating nature of incontinentia pigmenti. (Arch Pediatr Adolesc Med. 1995;149:573-580)

Gonadal mosaicism for incontinentia pigmenti in a healthy male.

Abstract: Incontinentia pigmenti (IP) is a genodermatosis that segregates as an X linked dominant trait with male lethality. The disease has been linked to Xq28 in a number of studies. A few affected males have been documented, most of whom have a 47,XXY karyotype. We report a family with two paternally related half sisters, each affected with IP. The father is healthy, clinically normal, and has a 46,XY normal male karyotype. Linkage analysis of 12 polymorphic markers (two X linked and 10 autosomal) confirms paternity. X inactivation studies with the human androgen receptor (HUMARA) indicate that the paternal X chromosome is inactivated preferentially in each girl, implying that this chromosome carries the IP mutation, and that the father is a gonadal mosaic for the IP mutation.

Recurrent inflammation in incontinentia pigmenti of a seven-year-old child.

Abstract: A young girl has undergone the typical skin manifestations of incontinentia pigmenti, leaving now only discrete hyperpigmentation on the flexor sides of the lower extremities. Each time when she has a feverish infection, a recurrence of inflammation can be seen within the hyperpigmented areas. At the same time when the fever subsides, the acute skin manifestations disappear as well. The combination of recurrent inflammatory skin manifestations within the hyperpigmented skin areas of incontinentia pigmenti and fever is unique. The reasons for this phenomenon and for its strict limitation to the areas of incontinentia pigmenti remain unclear.

Late, painful, subungual hyperkeratosis in incontinentia pigmenti.

Abstract: The postpubertal appearance of subungual, painful keratotic tumors is a rare feature of incontinentia pigmenti. A patient affected by incontinentia pigmenti developed subungual, painful, nontumoral, hyperkeratotic lesions of the hands at 10 years of age. The mildness of the subungual lesions may be explained by the early stage of the disorder, but it is difficult to correlate the severity of the fingertip pain with the absence of true tumoral swelling. To our knowledge this is the youngest patient reported so far and the only one with a prepubertal expression of this puzzling disorder.

Destructive Encephalopathy in Incontinentia Pigmenti : A Case Report

Abstract: We report a 2-day-old neonate with incontinentia pigmenti combined with destructive encephalopathy. Generalized seizures developed soon after birth; characteristic papulovesicles and hyperpigmented linear streaks appeared several days later. The brain CT scan showed multiple low density areas with cortical atrophy and ventricular enlargement. Histopathological examination favored the diagnosis of incontinentia pigmenti. Although a series of microbiological examinations failed to identify any infectious agent, the patient was still treated vigorously with anticonvulsants, systemic antibiotics, and acyclovir from the beginning of hospitalization. However, the seizures persisted, and the patient died 26 days after birth. Our report suggests that incontinentia pigmenti with encephalopathy may have a fatal prognosis.

Cerebellar involvement in hypomelanosis of Ito

Abstract: Hypomelanosis of Ito (HI) (incontinentia pigmenti achromians) with cerebellar atrophy and dysmorphic features is reported in a child. The association of cerebellar anomalies and HI has been previously reported in only four cases. However, since neuroimaging studies are not routinely obtained in these patients the frequency of this association might have been underestimated. In cases of otherwise unexplained cerebellar ataxia an examination of the skin with Wood's lamp should be performed since the typical hypopigmented lesions can be hardly visible in natural light.

Congenital and genetic disorders of hyperpigmentation

Abstract: Pigmented skin lesions are often the initial clue to the presence of an underlying disorder or syndrome. In evaluating such conditions, it is helpful to categorize the lesions according to their morphology and distribution. A diagnostic approach is provided, with the general topics consisting of melanocytic nevi, widespread or localized “spotty” pigmentation such as simple lentigines, cafe-au-lait macules, hyper-pigmentation along the lines of Blaschko, reticulate pigmentation, dermal melanocytosis, dyschromatosis, and other unique pigmentary patterns. Within this framework, we outline and review a variety of congenital and genetic disorders of hyperpigmentation, including giant congenital nevi and neurocutaneous melanosis, the multiple lentigines syndrome, Carney syndrome, and Peutz-Jehgers sywdrome, the neurofibromatoses, the McCune-Albright syndrome, incontinentia pigmenti and other conditions due to genetic mosaicism, dyskeratosis congenita and Fanconi's anemia, nevus of Ota, and many other conditions in which cutaneous pigmentation signals an underlying disorder. Diagnostic criteria and suggested clinical evaluation are provided when applicable.

Incontinentia pigmenti: late sequelae and genotypic diagnosis: a three-generation study of four patients.

Abstract: Late cutaneous signs of incontinentia pigmenti (IP) are often subtle and misdiagnosed. We focus on these somewhat confusing clinical markers in a family, and on the genotypic diagnosis based on DNA analysis. An infant was born with a typical IP rash. Dermatologic examination of the women In her family revealed that her mother, her maternal aunt, and her grandmother had subtle skin signs reminiscent of IP. The four family members proved to be Informative for DNA markers in the Xq28 region. Familial cases of IP are sometimes missed due to the lack of recognition of some late skin signs that are not always hyperpigmented streaks. Subtle, faint, hypochromic or atrophic lesions in a linear pattern may occur. Thus an accurate diagnosis of the women in a particular family also requires anamnestic data and recognition of extracutaneous anomalies. When a clinical diagnosis has been made, DNA marker analysis allows us to offer a prenatal diagnosis with minimal risk of error In case of further pregnancy. However, early testing of chorionic villus samples does not allow one to predict the severity of the disease in an affected fetus.

[Hereditary diseases and congenital malformations at the Unit of Medical Genetics of the University of Zulia. Years: 1983-1992].

Abstract: The Medical Genetics Unit at Universidad del Zulia (UGM-LUZ) gives counsel to patients with partial and total genetic diseases. Counseling is available for patients of both sexes and all ages, from public and private health centers and several medical specialities. In the present study an analysis of 4617 clinical records from families referred for genetic counseling to the UGM-LUZ is given. The study spans from January 1983 to December 1992. Fifty four (1.2%) of these histories correspond to pre-nuptial counseling, 773 (16.7%) pre-conceptional, 316 (6.8%) pre-natal and 3474 (75.3%) for diagnosis. A computerized system was developed, based on relational data base manager, that permits access with interactive Dbase type applications. A total of 5433 diagnoses were made. The most frequent causes of genetic diseases were chromosomal abnormalities (12.32%), mainly Down and Turner syndromes. Mendelian diseases occupied 14.45% of all cases, with Marfan and Noonan syndrome, Osteogenesis imperfecta. Duchenne-Becker muscular dystrophy and Incontinentia Pigmenti as the most frequent syndromes. Diseases that involve multifactorial inheritance, such as neural tube defects, accounted for 7.36% of all diagnosis. Effects of teratogenic agents such as german measles, radiations and others were detected in 3.96% of all cases. In 8.5% of the patients a hereditary factor was suspected. No definitive diagnosis was reached in 32.45% of all cases and 20.96% of the patients were normal. The need for data from other medical genetic centers is stressed. In this way the regional and national genetic diseases on morbidity can be known.

Retinopathy in incontinentia pigmenti: a neonatal case report.

Abstract: A female infant had erythematous vesicular skin lesions over the whole body and extremities in the early infancy. These skin lesions then changed to hyperpigmentation in whorls and splashes. Seizure attack was noted at one month old. Skin biopsy showed dyskeratosis, acanthosis, pigmenti incontinence, and massive infiltration of eosinophils. So Incontinentia pigmenti was confirmed. She also had hallmarks of retinal involvement, including peripheral retinal ischemia and neovascularization, which were similar to those seen in retinopathy of prematurity. Cryopexy was performed in her left eye and the lesions regressed.

Incontinentia pigmenti (Bloch-Sulzberger syndrome): report of a case and review of the Indian literature.

Abstract: I ncontinentia Pigmenti (IP) is a rare, heritable, multisystemic disorder that is thought to be transmitted as an X-linked dominant trait and is lethal in males? Although there are a few case reports of IP in Indian Journals catering to the speciality of Dermatology, >'~ the condition has not been highlighted in the pediatric literature emanating from our country. The purpose of this communication is to describe a case of IP with some unusual features and to review the cases already reported from the Indian subcontinent.

Gonadal mosaicism forincontinentia pigmenti ina healthy male

Abstract: Incontinentia pigmenti(IP)isa genodermatosis thatsegregates as an X linked dominanttraitwithmalelethality. The disease hasbeenlinked toXq28ina numberofstudies. A fewaffected maleshave beendocumented, most ofwhom havea 47,XXYkaryotype. We reportafamily with two paternally related halfsisters, each affected withIP.The fatherishealthy, clinically normal, andhasa 46,XYnormal malekaryotype. Linkageanalysis of12 polymorphic markers(twoX linkedand 10autosomal) confirmspaternity. X inactivation studies withthehuman androgenreceptor(HUMARA) indicate that thepaternal X chromosomeisinactivated preferentially ineachgirl, implying that thischromosomecarries theIPmutation, andthatthefather isa gonadal mosaicfor theIPmutation. (7MedGenet1995;32:887-890) Incontentia pigmenti (IP) was recognised as a discrete clinical entity as early as 1906.' The most prominent phenotypic features involve theskinanditsderivatives, theeye,andthe central nervous system.Thepenetranceofthe disease appearsnear 100%,butitsexpression ishighly variable, evenwithin families. Familial casesofIPfail toshowmaletomaleinheritance andinclude ahigh rateofspontaneousabortion ofmalefetuses, or an abundance offemale children, suggesting thatIPisan embryonic 2 * 3 *