Cases reported "Incontinentia Pigmenti"

Filter by keywords:



Filtering documents. Please wait...

11/32. Novel corneal features in two males with incontinentia pigmenti.

    incontinentia pigmenti (IP) is a rare X linked genetic disorder, which predominantly affects females. The mutations are usually lethal in males. Two male cases are presented; a genetic mosaic for the common IP deletion and another in whom the genetic abnormality has not yet been characterised. Emphasis is placed on the ocular features present in this disorder and in particular a novel corneal feature and its possible aetiology.
- - - - - - - - - -
ranking = 1
keywords = dominant
(Clic here for more details about this article)

12/32. Bilateral cerebrovascular accidents in incontinentia pigmenti.

    incontinentia pigmenti is an X-linked dominant neurocutaneous disorder with central nervous system manifestations in 30% of cases, including seizures and mental retardation. Ischemic or hemorrhagic cerebrovascular accidents have been reported rarely in incontinentia pigmenti. Chart review and literature search was performed following identification of the index case. We describe a patient with incontinentia pigmenti who developed bilateral cerebrovascular accidents in the neonatal period, with resultant severe neurologic sequelae. This is the second reported case of bilateral cerebrovascular accidents in a patient with incontinentia pigmenti. This finding may be secondary to cerebrovascular anomalies, similar to those observed in the retina. Recognition of cerebrovascular accidents as a complication of incontinentia pigmenti will hopefully lead to earlier recognition and treatment.
- - - - - - - - - -
ranking = 1
keywords = dominant
(Clic here for more details about this article)

13/32. Ocular findings of incontinentia pigmenti in a male infant with klinefelter syndrome.

    A male infant with Klinefelter karyotype (47, XXY) manifested both the typical dermatologic findings of the X-linked dominant disorder incontinentia pigmenti (Bloch-Sulzberger syndrome) and ocular findings including retinal pigmentary changes, peripheral retinal avascularity, and preretinal fibrovascular proliferation. To our knowledge, this is the first reported case of incontinentia pigmenti with this specific abnormal genotype manifesting ocular findings.
- - - - - - - - - -
ranking = 1
keywords = dominant
(Clic here for more details about this article)

14/32. Whorled scarring alopecia: a rare phenomenon in incontinentia pigmenti?

    incontinentia pigmenti is a rare X-linked dominant disease that affects the ectodermal tissues and is usually lethal in males. Two girls, 1 Malay and 1 Chinese, with incontinentia pigmenti of the Bloch-Sulzberger type had a whorled pattern of scarring alopecia. This phenomenon, hitherto unreported in association with this disorder, corresponded to the lines of Blaschko. The mother and maternal grandmother of the Malay girl also had whorled scarring alopecia. This phenomenon is permanent and can be used as a marker to ascertain affected adult women who may no longer have cutaneous manifestations. x chromosome inactivation in females during early embryogenesis results in a mosaic population of cells, which explains the linear and patchy cutaneous manifestations of incontinentia pigmenti.
- - - - - - - - - -
ranking = 1
keywords = dominant
(Clic here for more details about this article)

15/32. Surviving male with incontinentia pigmenti: a case report.

    incontinentia pigmenti, or Block-Sulzberger Syndrome, is an X-linked dominant disorder with characteristic skin, hair, eye and tooth abnormalities. It is classically considered a male-lethal disorder with recurrent miscarriages of male foetuses. A few cases of surviving males with incontinentia pigmenti have been reported in the medical literature. This article reports the medical and dental findings of a boy diagnosed with incontinentia pigmenti.
- - - - - - - - - -
ranking = 1
keywords = dominant
(Clic here for more details about this article)

16/32. Orthodontic and orthopedic treatment of a patient with incontinentia pigmenti.

    incontinentia pigmenti is an uncommon, inherited disorder with predominantly ectodermal manifestations that is associated with skin (100%)), dental (90%), skeletal (40%), central nervous (40%), and ocular (35%) deformities. It is an X-linked dominant disease, usually lethal in males and occurring in female infants. The dental effects include delayed eruption, partial anodontia, microdontia, and cone or peg-shaped teeth. The dental, clinical, and radiological findings in a 16-year-old female are presented here. The patient had peg-shaped teeth and a unilateral maxillary transverse discrepancy associated with oligodontia in the maxillary and mandibular arches. Orthodontic treatment included rapid maxillary expansion and fixed orthodontic therapy for prosthetic purposes and elimination of the functional midline shift.
- - - - - - - - - -
ranking = 2
keywords = dominant
(Clic here for more details about this article)

17/32. Neonatal seizures in two sisters with incontinentia pigmenti.

    Familial incontinentia pigmenti (IP) (OMIM #308300) is a rare genetic disorder which segregates in an X-linked dominant way. The female-to-male ratio ranges from 20 to 37 : 1. In affected females IP causes highly variable abnormalities of the skin, hair, nails, teeth, eyes, and central nervous system (CNS). Cardiovascular anomalies, cerebral infarction, and immune dysfunction are rare complications of IP. The pathogenesis of cerebral changes in IP remains elusive. We report the case of two IP-affected sisters who presented in each case with neonatal seizures on the fifth day of life. Via cranial magnetic resonance tomographic imaging (MRI) different types of lesions in both hemispheres were demonstrable in both patients. To date the pathogenetic mechanisms for the cerebral lesions are not fully understood. However, multiple microscopic infarcts could serve as a possible explanation. The clinical course and the neurological development of the older child are favorable and so far the younger sibling appears to be developing normally, which is uncommon for patients with early onset of neurological symptoms. Symptomatic seizures in IP are an important differential diagnosis in benign non-familial and familial neonatal seizures.
- - - - - - - - - -
ranking = 1
keywords = dominant
(Clic here for more details about this article)

18/32. The importance of screening for sight-threatening retinopathy in incontinentia pigmenti.

    incontinentia pigmenti (IP) is an X-linked dominant disorder of ectodermal structures affecting the skin, hair, teeth, eyes, and central nervous system. The four classic cutaneous stages of the disorder are well known to pediatric dermatologists. However, ocular and neurologic sequelae represent the major morbidity in IP. The two patients reported here highlight some of the potential ocular manifestations of IP and emphasize the importance of early ophthalmologic assessment in this condition.
- - - - - - - - - -
ranking = 1
keywords = dominant
(Clic here for more details about this article)

19/32. Pulmonary tuberculosis and cutaneous mycobacterial infection in a patient with incontinentia pigmenti.

    lupus vulgaris is reinfection tuberculosis of the skin and may result from direct extension, or hematogenous or lymphatic spread from a tuberculosis focus. lupus vulgaris following bacille Calmette-Guerin (BCG) vaccination is a rare entity. incontinentia pigmenti is an X-linked dominant genodermatosis in which vesicular, verrucous, and pigmented lesions are associated with various developmental defects. There is evidence of altered immunologic reactivity in some patients with incontinentia pigmenti. A 12-year-old girl hospitalized for pulmonary tuberculosis presented with bizarre-shaped brown macules following Blaschko lines on the left deltoid area, compatible with incontinentia pigmenti, which had appeared following BCG vaccination at the age of 7 years. Histopathologic examination found noncaseated granulomas in the dermis. Antituberculous treatment for pulmonary and cutaneous tuberculosis was initiated along with genetic counseling. Immunologic abnormalities have been reported in conjunction with incontinentia pigmenti. Simultaneous occurrence of pulmonary and cutaneous tuberculosis in our patient might be either coincidental or indicate derangements in the cellular immune system.
- - - - - - - - - -
ranking = 1
keywords = dominant
(Clic here for more details about this article)

20/32. incontinentia pigmenti (IP2): familiar case report with affected men. literature review.

    incontinentia pigmenti is a genodermatosis described by Garrod and in 1920 by Bloch, Sulzberger, Siemens y Bardach. It is an ectodermic disorder that affects skin, teeth, eyes and may also have neurological problems. The IP2 name describes the histological characteristics, the incontinence of melanin into the melanocytes cells in the epidermal basal layer and its presence in superficial dermis. IP2 is an x-linked dominant condition but genetic heterogeneity may exist. CASE REPORT: The patient was 4 yrs 5 months old when she came for the first time. In a physical exploration she presented sparse and thin hair, eyelashes and eyebrows, beaked nose, labial protrusion, the four central teeth have a conic crown and there was also a delayed eruption of other teeth, right eye strabismus, hipoacusia, language defects and a trunk, legs, feet, and face dermatosis characterized by grouped vesicles, hyperkeratotic and warty lesions and brownish-gray lesions in a lineal pattern. The patient s father had hypopigmented lesions in the posterior regions of both legs. The oral clinical and radiographic exams showed diverse anomalies. Both the patient's and the father's chromosomal studies were normal. DISCUSSION: In the present case we can see that the father has IP2 without supernumeraries X, with the antecedent that his mother had something similar. It is possible that the inheritance was autosomic dominant or it is a different mutation of NEMO (NF-kappa-B essential modulator) gene to a classical one, which was found in some affected men. It is necessary to carry out a molecular study of these patients.
- - - - - - - - - -
ranking = 3574.1743319808
keywords = x-linked dominant, x-linked, dominant
(Clic here for more details about this article)
<- Previous || Next ->


Leave a message about 'Incontinentia Pigmenti'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.