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At least 19 recordsLinked to original sources
PubMed2003

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.

Female↗
PubMed2003

A case of incontinentia pigmenti.

Incontinentia pigmenti is a multisystem disease that commonly involves the skin, eye, teeth and central nervous system. Incontinentia pigmenti involving the skin and central nervous system is reported in a four-year-old female child from Ethiopia. The clinical features of incontinentia pigmenti are discussed with literature review.

Child, Preschool↗
PubMed1998

Case report: orthodontic treatment of dental problems in incontinentia pigmenti.

Incontinentia pigmenti is an uncommon genodermatosis that occurs in female infants. The characteristic dental defects are partial anodontia and the presence of some peg-shaped teeth. This report describes a patient with incontinentia pigmenti who exhibited multiple missing teeth in both arches. The patient had malpositioned teeth and decreased occlusal vertical dimension associated with the missing teeth. Orthodontic treatment was required for prosthetic purposes. The dental anomalies of incontinentia pigmenti and the treatment procedure are presented.

Adult↗
PubMed2003

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.

Alopecia Areata↗
PubMed2006

Incontinentia pigmenti.

Incontinentia pigmenti or Bloch-Sulzberger syndrome, is a rare X linked dominant disorder with characteristic skin, hair, eye, dental and neurological abnormalities commonly affecting females. This article reports the clinical features and management of a 11 year old girl diagnosed with Incontinentia pigmenti.

Child↗
PubMed2001

Laser photocoagulation in preproliferative retinopathy of incontinentia pigmenti.

Incontinentia Pigmenti is a rare, X-linked, dominant disorder in which affected female infants develop characteristic abnormalities of the skin, central nervous system, hair, teeth, and eyes. Ocular abnormalities occur in about 35% of patients and consist of proliferative vitreoretinopathy, retinal detachment, strabismus, cataract, microphthalmia, optic nerve atrophy, and iris hypoplasia. Retinal vascular abnormalities, ranging from peripheral retinal avascularity to neovascular and fibrous proliferation with traction retinal detachment, are the primary cause of severe visual dysfunction in patients. Therapeutic intervention with laser photocoagulation and cryotherapy for the proliferative vitreoretinopathy of incontinentia pigmenti has met with variable success. We report a case in which laser photocoagulation was used at the onset of retinopathy with subsequent resolution of the vasculopathy.

Female↗
PubMed1985

Computed tomographic demonstration of brain changes in incontinentia pigmenti.

Incontinentia pigmenti is a rare condition, which may involve the central nervous system. Computed tomographic (CT) examination can supply important information about the dynamics and pathologic nature of this poorly understood syndrome. Two patients suffering from incontinentia pigmenti were examined by CT because of central nervous system symptoms. Large low-density areas in the brain were demonstrated in the CT examination of the first patient a few days after birth, suggesting a local edema. Diffuse brain atrophy was found two years later. Brain atrophy was also found in the second patient in a CT examination done at the age of 11 years.

Atrophy↗
PubMedDate not supplied

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.

Child↗
PubMed2003

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.

Child↗
PubMed1987

Incontinentia pigmenti.

Incontinentia pigmenti (IP) is an unusual genodermatosis occurring almost exclusively in female patients. IP is characterized by swirling hyperpigmented skin lesions and associated with a high incidence of systemic defects. Nearly one third of patients present with neurologic complications. Consequently, neurologists and other clinicians involved in the care of these patients must be able to identify the cutaneous markers and systemic findings of IP. This article discusses the clinical presentations, laboratory findings, and pathogenesis of IP. A systematic approach to the evaluation and management of patients with IP is presented.

Humans↗
PubMed1993

The molecular genetics of incontinentia pigmenti.

Incontinentia pigmenti (IP) is an unusual and fascinating disorder of the developing neuroectoderm. IP is an X-linked dominant disease characterized by congenital and age-related dermatologic abnormalities and significant neurological, ophthalmologic, and dental anomalies. Two distinct IP gene loci, IP1, mapped to Xp11.21, and IP2, mapped to Xq28, have been identified. The necessary prerequisites for cloning the IP1 gene by a positional cloning approach are available. Ten DNA markers have been mapped to a region between IP1 X-chromosomal translocation breakpoints within region Xp11.21. Approximately 60% of the 2,500-kb region between IP1 X-chromosomal translocation breakpoints has been cloned in yeast artificial chromosome clones.

Chromosome Banding↗
PubMedDate not supplied

Clinical features and computer-aided analysis of chromosome aberration in a case with incontinentia pigmenti.

Incontinentia pigmenti (IP) is an X-linked dominant disease, usually lethal to males. IP belongs to rare diseases involving skin pathological findings, together with neurological and ophthalmological disorders. We here report a two-year old girl with typical symptoms of the IP. A hitherto unreported feature is partial deletion of short arms of one of the chromosomes 15, found in the girl and in her mother. Using an automatic chromosome picture analyzer, a densitometric analysis of the aberration was carried out, in order to determine the break point and to compare the normal and deleted chromosomes.

Chromosome Aberrations↗
PubMed2003

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.

Adolescent↗
PubMed1994

[Incontinentia pigmenti].

Incontinentia Pigmenti (IP) originally described by Bloch in 1992 and by Sultzberger in 1928 is also known as the Bloch-Sultzberger syndrome. IP is a rare genodermatosis occurring in most races, but almost exclusively among females. IP is manifested as a skin disease with blisters, warts and hyperpigmentation. About 80 percent of IP patients develop systematic manifestations in the form of serious complications involving the eyes, teeth, skeleton as well as alopecia and CNS dysfunction. IP is inherited as an X-linked dominant trait, though its aetiology is unknown at present. The article consists in a review of the most important literature on IP and includes a report of a case from the Nordic IP Association archives. As a large Nordic research project on IP is being planned the association is keen to contact more people with this rare disease.

Alopecia↗
PubMedDate not supplied

Evaluation of the norrie disease gene in a family with incontinentia pigmenti.

Incontinentia pigmenti (IP) is an ectodermal multisystem disorder which can affect dental, ocular, cardiac and neurologic structures. The ocular changes of IP can have a very similar appearance to the retinal detachment of X-linked familial exudative vitreoretinopathy, which has been shown to be caused by the mutations in the Norrie disease gene. Therefore, it is of interest to determine whether similar mutations in the gene can account for the retinal pathology in patients with IP. To test our hypothesis, we have analyzed the entire Norrie disease gene for a family with IP, by single strand conformational polymorphism followed by DNA sequencing. The sequencing data revealed no disease-specific sequence alterations. These data suggest that ocular findings of IP are perhaps associated with different genes and there is no direct relationship between the genotype and phenotype.

DNA↗
PubMed1996

[Incontinentia pigmenti].

Incontinentia pigmenti (IP) is a hereditary syndrome characterized by specific skin lesions occurring mostly during the neonatal period (96% of the cases before 6 weeks of age). These skin lesions have four steps of evolution: inflammatory or erythemato-bullous stage (very often associated with peripheral blood hyper-eosinophilia), proliferative or verruco-lichenoid stage, pigmentary or terminal stage characterized by "fountain" or "firework" features (with a picture of pigmentary incontinence at histological examination), sometimes there is a fourth stage referred to as "involutive". Ocular and neurological involvement is the main determinant in the prognosis. Eye lesions include corneal flecks, cataracts, uveitis or optical atrophy with retrolental fribroplasia. The neurological involvement includes pyramidal syndrome, cerebral ataxia, microcephalia, and mental retardation. The disease has mainly an X-linked dominant transmission and is usually lethal for males. Rare cases are observed in boys, some being associated with Klinefelter syndrome. Research is ongoing to identify the IP gene on the X chromosome. In the family form of IP, the gene has been located on chromosome Xq28, which allows prenatal diagnosis using trophoblast biopsy.

Eye Diseases↗
PubMed2005

Dental anomalies in two patients with incontinentia pigmenti.

Incontinentia pigmenti (IP) is a rare X-linked dominant inherited disorder which has a variety of ectodermal aberrations. Skin hyperpigmentation is the most characteristic feature of IP. However, extracutaneous anomalies involving dentition, hair, eyes, and central nervous system are also found. The dental anomalies reported include peg-shaped or malformed teeth, hypodontia, delayed eruption, and impacted tooth. This report describes the dental anomalies in 2 IP patients who had the characteristic features of skin hyperpigmentation. One was a 13-year-old girl who had slender cone-shaped permanent anterior teeth, hypodontia, and delayed eruption of teeth which are characteristic dental anomalies in an IP patient. The other was a 10-year-old girl who only had 2 tulip-shaped maxillary permanent central incisors with shorter tapering roots but no congenital missing teeth or delayed eruption of teeth. Our findings suggest that IP may present a broad variation of dental anomalies individually. However, the characteristic finding of permanent anterior teeth with a longer crown and a shorter root found in both of our IP patients may be worthy of consideration in the differential diagnosis of IP.

Adolescent↗
PubMed2002

Expression of eotaxin, an eosinophil-selective chemokine, parallels eosinophil accumulation in the vesiculobullous stage of incontinentia pigmenti.

Incontinentia pigmenti (IP) is an X-linked dominant genodermatosis primarily affecting female children. The initial vesiculobullous stage of IP is characterized clinically by inflammatory papules, blisters, and pustules, and histopathologically by acanthosis, keratinocyte necrosis, epidermal spongiosis and massive epidermal eosinophil infiltration. The cause of this multisystem disease is attributed to the mutations of an X-linked regulatory gene, termed nuclear factor-kappaB essential modulator (NEMO). The exact mechanism of epidermal eosinophil accumulation has not yet been determined. We explored the possible role of an eosinophil-selective, nuclear factor-kappaB-activated chemokine, eotaxin, in the accumulation of eosinophils in the initial stage of the disease. Monoclonal antibody (6H9) specific for human eotaxin strongly labelled the suprabasal epidermis of IP skin, paralleling the upper epidermal accumulation of eosinophils, but did not label the epidermis of normal skin or lesional skin from patients with other inflammatory skin diseases not characterized by prominent eosinophil accumulation, namely dermatitis herpetiformis and selected cases of atopic dermatitis lacking significant numbers of eosinophils. In addition, endothelial cells in lesional skin of IP also exhibited strong expression of eotaxin, which correlated with perivascular and intravascular eosinophil infiltration. We also examined the in vitro effects on epidermally derived eotaxin of several cytokines that were nuclear factor-kappaB-activated and/or known to induce eotaxin expression. In normal human keratinocytes, proinflammatory cytokines either independently (IL-1alpha) or synergistically (tumour necrosis factor-alpha (TNF-alpha)/ interferon-gamma (IFN-gamma) and TNF-alpha/IL-4) up-regulated eotaxin expression. These studies suggest that release of cytokines during the initial inflammatory stage of IP induces epidermal expression of eotaxin, which may play a role in the epidermal accumulation of eosinophils.

Cells, Cultured↗