Showing papers on "Incontinentia pigmenti published in 2014"

Incontinentia pigmenti diagnostic criteria update

Abstract: In 1993 diagnostic criteria for incontinentia pigmenti (IP), a genodermatosis in which skin changes are usually combined with anomalies of other organs, were established. Approximately a decade ago, IKBKG gene mutation was discovered as a cause for IP. This finding has not been included in IP diagnosis so far. In addition, literature data pointed out a few other clinical findings as possible IP diagnostic criteria. Literature facts concerning IP diagnosis were analyzed. Different organ anomalies, their frequency and severity, were analyzed in the context of applicability as IP diagnostic criteria. Taking into account analyzed data from the literature, the proposal of updated IP diagnostic criteria was presented. We propose as major criteria one of the stages of IP skin lesions. As updated IP minor criteria in our proposal we included: dental, ocular; central nervous system (CNS), hair, nail, palate, breast and nipple anomalies; multiple male miscarriages, and IP pathohistological findings. In the diagnosis of IP, the presence of IKBKG mutation typical for IP, and existence of family relatives with diagnosed IP are taken into account.

Insight into IKBKG/NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease

Abstract: Incontinentia pigmenti (IP) is an X-linked-dominant Mendelian disorder caused by mutation in the IKBKG/NEMO gene, encoding for NEMO/IKKgamma, a regulatory protein of nuclear factor kappaB (NF-kB) signaling. In more than 80% of cases, IP is due to recurrent or nonrecurrent deletions causing loss-of-function (LoF) of NEMO/IKKgamma. We review how the local architecture of the IKBKG/NEMO locus with segmental duplication and a high frequency of repetitive elements favor de novo aberrant recombination through different mechanisms producing genomic microdeletion. We report here a new microindel (c.436_471delinsT, p.Val146X) arising through a DNA-replication-repair fork-stalling-and-template-switching and microhomology-mediated-end-joining mechanism in a sporadic IP case. The LoF mutations of IKBKG/NEMO leading to IP include small insertions/deletions (indel) causing frameshift and premature stop codons, which account for 10% of cases. We here present 21 point mutations previously unreported, which further extend the spectrum of pathologic variants: 14/21 predict LoF because of premature stop codon (6/14) or frameshift (8/14), whereas 7/21 predict a partial loss of NEMO/IKKgamma activity (two splicing and five missense). We review how the analysis of IP-associated IKBKG/NEMO hypomorphic mutants has contributed to the understanding of the pathophysiological mechanism of IP disease and has provided important information on affected NF-kB signaling. We built a locus-specific database listing all IKBKG/NEMO variants, accessible at http://IKBKG.lovd.nl.

Incontinentia pigmenti: report on data from 2000 to 2013.

Abstract: We report here on the building-up of a database of information related to 386 cases of Incontinentia Pigmenti collected in a thirteen-year activity (2000–2013) at our centre of expertise. The database has been constructed on the basis of a continuous collection of patients (27.6/year), the majority diagnosed as sporadic cases (75.6%). This activity has generated a rich source of information for future research studies by integrating molecular/clinical data with scientific knowledge. We describe the content, architecture and future utility of this collection of data on IP to offer comprehensive anonymous information to the international scientific community.

Orodental manifestations in ectodermal dysplasia—A review

Abstract: Oral signs and symptoms are present in most ectodermal dysplasias (EDs). The aim of this article is to summarize some of the literature on current knowledge of oral manifestations and orofacial function in EDs. The review will focus on the most common forms where dental manifestations can be crucial for a differential diagnosis of ED among individuals with hypodontia and oligodontia, and preferably where the investigations included persons who had a genetically verified diagnosis. Disturbances in tooth development are common and can appear as tooth agenesis, variations in size and shape of teeth, defects in the mineralized tissues, and problems in tooth eruption. Abnormalities in number, size, and shape of teeth, and reduced salivary secretion, present in isolated oligodontia as well as in hypohidrotic ED and incontinentia pigmenti. In some more rare EDs these symptoms appear in combination with clefts of lip and/or palate in some affected individuals. Leukokeratosis in the oral mucosa presents in 70% of genetically confirmed cases of pachyonychia congenita. Also, orofacial function is often affected in ED, due to malformations, an incomplete dentition, and low salivary secretion which can compromise chewing, swallowing, and speech. In conclusion, there is a clinical overlap in oral signs and symptoms between isolated oligodontia and the most common EDs. Studies with genetically confirmed diagnoses and larger cohorts, as well as multicenter collaboration and the establishing of international registries, would create a basis for refined diagnostics, where oral examinations should be an integrated part of clinical assessment.

Incontinentia Pigmenti: Learning Disabilities Are a Fundamental Hallmark of the Disease

Abstract: Studies suggest that genetic factors are associated with the etiology of learning disabilities. Incontinentia Pigmenti (IP, OMIM#308300), which is caused by mutations of the IKBKG/NEMO gene, is a rare X-linked genomic disorder (1∶10000/20∶000) that affects the neuroectodermal tissues. It always affects the skin and sometimes the hair, teeth, nails, eyes and central nervous system (CNS). Data from IP patients demonstrate the heterogeneity of the clinical phenotype; about 30% have CNS manifestations. This extreme variability suggests that IP patients might also have learning disabilities. However, no studies in the literature have evaluated the cognitive profile of IP patients. In fact, the learning disability may go unnoticed in general neurological analyses, which focus on major disabling manifestations of the CNS. Here, we investigated the neuropsychological outcomes of a selected group of IP-patients by focusing on learning disabilities. We enrolled 10 women with IP (7 without mental retardation and 3 with mild to severe mental retardation) whose clinical diagnosis had been confirmed by the presence of a recurrent deletion in the IKBKG/NEMO gene. The participants were recruited from the Italian patients' association (I.P.A.SS.I. Onlus). They were submitted to a cognitive assessment that included the Wechsler Adult Intelligence scale and a battery of tests examining reading, arithmetic and writing skills. We found that 7 patients had deficits in calculation/arithmetic reasoning and reading but not writing skills; the remaining 3 had severe to mild intellectual disabilities. Results of this comprehensive evaluation of the molecular and psychoneurological aspects of IP make it possible to place “learning disabilities” among the CNS manifestations of the disease and suggest that the IKBKG/NEMO gene is a genetic determinant of this CNS defect. Our findings indicate the importance of an appropriate psychoneurological evaluation of IP patients, which includes early assessment of learning abilities, to prevent the onset of this deficit.

Neonatal incontinentia pigmenti: Six cases and a literature review

Abstract: The aim of this study was to retrospectively analyze the cases of six infants with incontinentia pigmenti (IP) in the Department of Neonates and compare their data with 60 cases of IP reported in the available Chinese literature, in order to determine the clinical characteristics and outcomes of neonatal IP in China. The majority of the cases were located near the eastern and southern coasts of China, and ~98.5% of IP cases occurred within 1 week of birth. The majority of the babies with IP were term infants. Twelve cases had a positive family history of IP. The mothers of 10 patients had a history of recurrent spontaneous abortions, and the mothers of five patients had infectious or autoimmune diseases during pregnancy. Cutaneous manifestations were shown at stage I in 59 cases, at stage II in 28 cases and at stage III in three cases (multiple stages were recorded in certain cases). Neurological changes occurred in 18 cases and ocular changes were observed in 12 cases. The toxoplasmosis, rubella, cytomegalovirus and herpes simplex (TORCH) test showed positive results in three cases; autoantibody positivity was found in three cases and high blood eosinophil levels were observed in 20 cases. Brain scans revealed positive results in 16 cases and complications were observed in 21 cases. Thirty-four cases were followed for 1-6 months, six cases for 7-12 months and 17 cases for 13-84 months. Among these cases, 34 exhibited no evidence of recurrence. Five patients, including one male, succumbed in the long course of the follow-up. Two IP cases persisted after five years of follow-up. The data from the present study may reflect the characteristics of IP in the Chinese population and provide useful information for the diagnosis and treatment of IP by dermatologists and neonatologists.

Hypohidrotic Ectodermal Dysplasia, Osteopetrosis, Lymphedema, and Immunodeficiency in an Infant with Multiple Opportunistic Infections

Abstract: Osteopetrosis, lymphedema, hypohidrotic ectodermal dysplasia, and immunodeficiency (OL-HED-ID) is a rare X-linked disorder with only three reported prior cases in the English-language literature. We describe a case of OL-HED-ID in a male infant who initially presented with congenital lymphedema, leukocytosis, and thrombocytopenia of unknown etiology at 7 days of age. He subsequently developed gram-negative sepsis and multiple opportunistic infections including high-level cytomegalovirus viremia and Pneumocystis jiroveci pneumonia. The infant was noted to have mildly xerotic skin, fine sparse hair, and periorbital wrinkling, all features suggestive of ectodermal dysplasia. Skeletal imaging showed findings consistent with osteopetrosis, and immunologic investigation revealed hypogammaglobulinemia and mixed T- and B-cell dysfunction. Genetic testing revealed a novel mutation in the nuclear factor kappa beta (NF-KB) essential modulator (NEMO) gene, confirming the diagnosis of OL-HED-ID. Mutations in the NEMO gene have been reported in association with hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID), OL-HED-ID, and incontinentia pigmenti. In this case, we report a novel mutation in the NEMO gene associated with OL-HED-ID. This article highlights the dermatologic manifestations of a rare disorder, OL-HED-ID, and underscores the importance of early recognition and prompt intervention to prevent life-threatening infections.

Incontinentia pigmenti or Bloch-Sulzberger syndrome: a rare X-linked genodermatosis

Abstract: Incontinentia pigmenti is a rare X-linked genodermatosis that affects mainly female neonates The first manifestation occurs in the early neonatal period and progresses through four stages: vesicular, verruciform, hyperpigmented and hypopigmented Clinical features also manifest themselves through changes in the teeth, eyes, hair, central nervous system, bone structures, skeletal musculature and immune system The authors report the case of a patient with cutaneous lesions and histological findings that are compatible with the vesicular stage, emphasizing the importance of early diagnosis and appropriate therapeutic management

Incontinentia pigmenti in an XY boy: case report and review of the literature.

Abstract: Background:Incontinentia pigmenti (IP) is a rare genetic skin disorder with X-linked dominant inheritance and a characteristic sequence of cutaneous manifestations, which is regarded as lethal in XY males.Objective:To report a case of a surviving XY male with the common IKBKG (NEMO) gene deletion confirming IP.Methods and Results:A newborn XY male with suspected IP underwent a skin biopsy on affected tissue for histopathology. Molecular genetic testing was also performed on the specimen and revealed the common IKBKG gene deletion with a pattern suggestive of somatic mosaicism. Our findings are aligned with a PubMed literature review for XY males with IP and documented IKBKG mutation. We determined that only 10 such genetically proven cases have been reported, including our case.Conclusion:Although relatively rare, cases of IP in XY males with the common NEMO mutation have likely been underreported due to the unavailability of appropriate testing in the past. Karyotype and molecular testing should be consi...

Two Major Categories of Mosaicism

Abstract: Among the skin disorders reflecting mosaicism, two major categories are genomic mosaics and epigenetic mosaics. In genomic mosaicism we can discriminate lethal from nonlethal mutations. Lethal mutations can only survive in a mosaic state. By contrast, nonlethal mutations, when transmitted to the next generation, cause a diffuse, nonmosaic involvement. – A type 1 segmental manifestation reflects a postzygotic mutation occurring in an otherwise healthy embryo, whereas a type 2 segmental manifestation is superimposed on a diffuse, nonsegmental involvement and reflects loss of the corresponding wild-type allele occurring in a heterozygous embryo. – In common polygenic skin disorders such as psoriasis a pronounced, superimposed segmental manifestation may originate form early loss of heterozygosity or from a postzygotic new mutation occurring at an additional predisposing gene locus. – In paradominant traits, heterozygous individuals are usually healthy. The disorder only becomes manifest when the corresponding wild-type allele is lost at an early developmental stage, giving rise to a homozygous or hemizygous patch. – Twin spots are paired patches that differ genetically from each other and from the surrounding background tissue. In human skin, possible examples are cutis tricolour and paired nevus flammeus and nevus anemicus. – In epidermolysis bullosa and other genodermatoses, revertant mosaicism may result from a postzygotic back mutation, giving rise to patches of healthy skin. Epigenetic mosaicism of autosomes has been studied in dogs and may also occur in humans. Epigenetic mosaicism of X chromosomes results in a linear or otherwise segmental pattern in various X-linked skin disorders. In some of these traits such as incontinentia pigmenti or focal dermal hypoplasia, X-inactivation accounts for survival of female embryos, whereas male embryos carrying the mutation usually die in utero. By way of exception, however, male embryos with a 46,XY karyotype may survive because they carry a postzygotic new mutation giving rise to genomic mosaicism, or because they have a 47,XXY karyotype resulting in functional X-chromosome mosaicism. – It should be borne in mind that not all of the X-linked human genes are inactivated. For example, the gene of X-linked recessive ichthyosis escapes inactivation, which is why female gene carries display a completely normal phenotype.

Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections ectodermal dysplasia, benign tumors, and neuropathy

Abstract: Duplications on Xq28 are common, although quite variable in size, but usually include the MECP2 gene. Here, we present a patient with a unique, small, 167-kb duplication at Xq28, not including MECP2. The most important gene in the duplicated region was IKBKG, mutations in which can cause a variety of distinct syndromes. Our patient's symptoms overlapped with different IKBKG-associated phenotypes, including hypohidrotic ectodermal dysplasia, incontinentia pigmenti, immunodeficiency, recurrent isolated invasive pneumococcal disease and anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema. In addition, she also had peripheral neuropathy, gastroparesis and various benign tumors, but no intellectual disability. Mixed syndromal presentation in several patients with IKBKG defect implies that IKBKG-related phenotypes are more like a spectrum, rather than distinct syndromes. We also suggest our patient's multisystem phenotype to be a novel contiguous gene syndrome, in which the key features include immune deficiency, macrocephaly, skin abnormalities, gastroparesis, peripheral small-fiber neuropathy, and benign tumors.

Neurological involvement in incontinentia pigmenti.

Abstract: Dear Editor, We read with great interest the article by Zhang et al. [4] that reported on cutaneous manifestations of incontinentia pigmenti (IP)with blisters on the trunk and limbs, sparing the face, in a 15day-old female infant. Incontinentia pigmenti is a rare, X-linked dominant multisystem genodermatosis affecting ectodermal and mesodermal tissues. It is often associated with cutaneous, ocular, dental, and central nervous system (CNS) abnormalities [3]. After the skin, the central nervous system is the second most affected system. But, we did not see the neurological findings of the presented case. Because IP is one of neurocutaneous disorders, we aimed to emphasize the neurological involvement in IP. Recently, we reported on a female infant at the age of day 5 with IP that hadmarked neurological involvement [2]. Contrary to presented case, a family history was positive in our patient. Additionally, pedigree of the family indicated early losses of male fetuses. Similarly, our patient had erythematous vesicles arranged in linear groups involving mainly the limbs and the trunk, and also an encephalocele on the vertex plane of the patient's head. The mother's examination revealed cutaneous atrophic hypopigmented lesions. Cranial magnetic resonance imaging (MRI) of the patient revealed a midline skull defect on the posterior parietal bone and an associated protruding lesion consistent with encephalocele. In addition, agenesis of the corpus callosum, an arachnoid cyst in the posterior fossa, a porencephalic cyst in the left parietal lobe, and diffuse contrast uptake on the tentorium were demonstrated. Up to half of patients with IP are reported to have evidence of CNS involvement. The most common manifestations of CNS involvement are microcephaly, hydrocephalus, strokes, seizures, global developmental delay, spastic paresis, cerebellar ataxia, and MRI changes [1]. However, encephalocele, which is first reported in our case, was not defined previously. The CNS manifestations of our patient were similar to findings of previous reports, except the presence of an encephalocele. Seizures can be the presenting symptom of the disease and usually develop within the first few weeks of life. TheCNS involvement is a very important issue for predicting the prognosis in patients with IP. These patients should be regularly followed up for possible development of neurological handicaps, like epileptic seizures.

Is there an increased prevalence of Wilms' tumor in incontinentia pigmenti syndrome?

Abstract: incontinentia pigmenti syndrome? We report the case of 5-month-old girl with incontinentia pigmenti (IP), showing the typical lesions during the first month of life (Fig. 1a). At the age of one month, abdominal distension was observed by her mother. Physical exam revealed hepatomegaly and linear hyperchromic pigmentation, following Blaschko lines on both arms, both legs, and abdomen (Fig. 1b). There were no other abnormalities. The infant’s abdominal ultrasonography revealed an enlarged and heterogeneous liver, occupying almost all of the upper abdominal cavity, and a septated kidney cyst. Computed tomography (CT) scans of the abdomen revealed voluminous hepatomegaly, with hypodense nodular images, randomly distributed in the hepatic parenchyma, the largest being 3.0 9 3.5 cm, and another complex lesion, located in the middle third of the left kidney, measuring 8.1 9 7.5 cm, compatible with a primary neoplastic lesion. Histological and immunohistochemical findings of a hepatic nodule biopsy evidenced a metastatic Wilms’ tumor (Fig. 2). During hospitalization, the patient acquired a respiratory syncytial virus and died on the 10th day due to respiratory failure. We had planned a course of antineoplastic therapy to reduce the size of the tumor and then have it surgically removed. Two literature reviews revealed six cases of cancer in patients with IP; two of them were Wilms tumors (one of these also developed paratesticular rhabdomyosarcoma and acute myelomonocytic leukemia); two others were retinoblastomas, one was a rhabdoid kidney tumor, and one case was an acute myelocytic leukemia. Later, two cases of squamous skin cell carcinoma were reported in 16and 25-year-old patients with IP. Ours is the third case of a Wilms tumor and the ninth case of cancer reported. As a PUBMED search reveals approximately 2000 published cases of IP, the frequency of Wilms tumors in patients with IP could therefore be estimated as 1.5/1000 cases. On the other hand, the frequency in the general pediatric population has been reported as substantially lower, 0.008/1000 cases. Different mutations in the NEMO gene are associated with IP. This gene is required for the activation of NF-jB, which is fundamental or the core issue to immune response, inflammation, cell growth, tissue differentiation, and apoptotic pathways. NF-jB is aberrantly activated in tumor cells. The mechanism of this activation is not clear. With the epidemiological data available at present, we believe the prevalence of Wilms tumor, in patients with IP, has increased. Longitudinal studies on IP should focus on the occurrence of malignancies and will be useful to confirm these findings. For this reason, we think that abdominal ultrasonographies, in the first and second year of life, might be warranted.

Ophthalmic evaluation, treatment, and follow-up of two cases of incontinentia pigmenti.

Abstract: Incontinentia pigmenti (IP) is an X-linked dominant disorder affecting the skin, teeth, eyes, and central nervous system. Ocular changes are common and may lead to severe vision loss. We report on the ocular manifestations in two young girls with IP, with emphasis on the asymmetry of this condition in both eyes and associated retinal problems. The outcomes of laser treatment of the ischemic peripheral retina were good and resulted in stability of vision.

A healthy delivery of twins by assisted reproduction followed by preimplantation genetic screening in a woman with X-linked dominant incontinentia pigmenti

Abstract: The purpose of this study is to report a successful twin pregnancy and delivery in a female patient with X-linked dominant incontinentia pigmenti (IP) who underwent assisted reproductive technology followed by preimplantation genetic screening (PGS). A 29-year-old female with IP had a previous history of recurrent spontaneous abortion. A molecular analysis revealed the patient had a de novo mutation, 1308_1309insCCCCTTG(p.Ala438ProfsTer26), in the inhibitor of the kappa B kinase gamma gene located in the Xq28 region. IVF/ICSI and PGS was performed, in which male embryos were sexed using array-based comparative genomic hybridization (aCGH). After IVF/ICSI and PGS using aCGH on seven embryos, two euploid male blastocysts were transferred with a 50% probability of a viable male pregnancy. The dizygotic twin pregnancy was confirmed and the amniocentesis results of each twin were normal with regard to the mutation found in the mother. The pa tient delivered healthy twin babies during the 37th week of gestation. This case shows the beneficial role of PGS in achieving a successful preg nancy through euploid male embryo gender selection in a woman with X-linked dominant IP with a history of multiple male miscarriages.

Neonatal presentation of incontinentia pigmenti with a family history extending over four generations--a case report.

Abstract: We report a case of Incontinentia pigmenti (IP). A day 2 female presented to the special care nursery with seizures. EEG showed multifocal epileptiform discharges and cranial MRI revealed extensive cerebral infarction. A rash appeared shortly after birth. Eye examination revealed changes of IP. There is a strong family history of IP. Genetic testing excluded the most common mutation. Follow-up reveals significant development delay.

Genetic Causes of Cerebrovascular Disorders in Childhood

Abstract: markdown____ Cerebrovascular disorders in childhood comprise ischemic stroke and hemorrhagic stroke. This thesis comprises a escription of genetic causes of childhood cerebrovascular disorders. Two examples of genetic causes of ischemic stroke, comprising a case of ACTA2 mutation and a review of the neurological findings in incontinentia pigmenti. In addition, genetic causes of childhood hemorrhagic stroke, mainly in the perinatal period, are provided. These comprise descriptions of special phenotypes linked to COL4A1 mutations, i.e. hydranencephaly, anterior segment disorders and a case of putative autosomal recessive inheritance of a COL4A1 mutation. The identification of COL4A2 mutations as a novel cause of porencephaly and small vessel disease is described. In addition, USP18 mutations were identified as novel causes of severe pseudo-TORCH syndrome with cerebral hemorrhage and early demise.

Unusual hyperpigmented patches, an undeveloped breast and a cataract in a female with incontinentia pigmenti

Abstract: A 19-year-old female and her mother visited our department with a history of unusual reticular brown-black patches on their trunks and limbs since infancy. Besides the obviously fulsome hyperpigmentation, the daughter also showed other unusual clinical manifestations such as generalized hypohidrosis, especially on the hyperpigmented patches, cicatricial alopecia, a cataract on her right eye, abnormal teeth and a right dysplastic breast. The mother had a median diastema between her maxillary central incisors, hypoplasia of the enamel, hypohidrosis and hyperpigmented patches on her left thoracic region. Analysis of the NEMO (NF-κB essential modulator) gene in the patient and her mother revealed a deletion of exons 4–10. Their EDA and EDAR genes were normal.

Incontinentia Pigmenti (IP)

Abstract: Incontinentia pigmenti type 2 (IP2) (to differentiate it from hypomelanosis of Ito, which was previously referred to as IP1) is an X-linked dominant hereditary disease with cutaneous, neurological, ocular, and musculoskeletal changes, which is lethal in males. It is caused by inactivating mutations in the gene for NF - κ B essential modulator ( NEMO)/I κ B kinase- γ ( IKK γ ).

Relationship Between Hypomorphic Alleles and Mosaicism of Lethal Mutations

Abstract: Some genes may harbor different mutant alleles resulting in either a very severe or a rather mild disorder. For example, male embryos hemizygous for incontinentia pigmenti are dying in utero. Remarkably, however, other mutations within the same gene are hypomorphic alleles giving rise to ectodermal dysplasia of Zonana, a disease that is so mild that hemizygous males can survive. Female carriers only show a systematized linear pattern of pigmentary disturbance that should not be confused with incontinentia pigmenti, whereas affected males suffer from a rather severe immunodeficiency. In another X-linked male-lethal trait, Conradi-Hunermann-Happle syndrome, the presence of a hypomorphic allele accounts for survival of men who suffer from “MEND syndrome”, representing a quite different phenotype. A similar dichotomy of severity has been documented in CHILD syndrome versus CK syndrome, and in autosomal dominant acanthosis nigricans versus FGFR3 epidermal nevus syndrome.

Incontinentia pigmenti: a rare pathology with complex rehabilitative aspects.

Abstract: Purpose: Incontinentia pigmenti (IP), or Bloch-Sulzberger syndrome, is a rare X-linked dominant genetic disorder with multisystem involvement. To our knowledge, there are no previous reports about rehabilitation in IP adult with intact cognitive development. We report a 20-year-old lady with IP managed and followed into adulthood. Method: Patient management and rehabilitation programs from birth to the last follow-up. Results: There was normal cognitive development despite magnetic resonance imaging (MRI) evidence of white matter, corpus callosum and brainstem hypoplasia. Extensor spasticity was present on both lower limbs for which she underwent rehabilitation from the age of one. Botulinum toxin injections were performed and when she was 15 years old she underwent functional surgery. Conclusion: The absence of mental retardation in our patient enabled us to carry out an active rehabilitation program and provide her with maximum independence in locomotion and in activities of daily living. Implic...

Incontinentia pigmenti in a neonate with seizures in hospital tuanku ja'afar, malaysia

Abstract: Incontinentia Pigmenti (IP) or Bloch-Sulzberger’s syndrome is a rare X link dominant neurocutaneous syndrome that mainly affects female. A baby girl was admitted to the Special Care Nursery (SCN), Hospital Tuanku Ja’afar (HTJ) at day seven of life for jaundice but noted to have vesiculobullous lesion over the limbs and trunk and subsequently readmitted at day twenty two of life for seizures. The vesiculobullous lesions evolved into verrucous and hyperpigmentation along the Blaschko’s lines. The computed tomography (CT) of the brain showed evidence of cerebral infarct which is consistent with the diagnosis of IP.

Ophthalmic evaluation, treatment, and follow-up of two cases of incontinentia pigmenti Avaliação oftalmológica, tratamento e seguimento de dois casos de incontinentia pigmenti

Abstract: Incontinentia pigmenti (IP) is an X-linked dominant disorder affecting the skin, teeth, eyes, and central nervous system. Ocular changes are common and may lead to severe vision loss. We report on the ocular manifestations in two young girls with IP, with emphasis on the asymmetry of this condition in both eyes and associated retinal problems. The outcomes of laser treatment of the ischemic peripheral retina were good and resulted in stability of vision. Keywords: Incontinentia pigmenti/diagnosis; Incontinentia pigmenti/therapy; Laser therapy; Case reports RESUMO Incontinentia pigmenti (IP) e uma desordem ligada ao X dominante afetando a pele, dentes, olhos e sistema nervoso central. Alteracoes oculares sao comuns e podem levar a severa perda visual. Nos relatamos manifestacoes oculares de duas jovens pacientes com IP, enfatizando a assimetria da condicao em cada olho e tambem alteracoes retinianas que possam ocorrer. Tratamento a laser na periferia isquemica da retina gera bons resultados e estabiliza a visao.

Genomic analysis of a girl with incontinentia pigmenti but without NEMO mutation.

Abstract: Division of Pediatric Ophthalmology, Division of Vitreo-retinal Disease, King Khaled Eye Specialist Hospital, Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia and Department of Ophthalmology, College of Medicine, University of Florida, Jacksonville, Florida, USA Correspondence to Arif O. Khan, MD, Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh 11462, Saudi Arabia Tel: + 966 11 482 1234 x3773; fax: + 966 11 482 9311; e-mail: arif.khan@mssm.edu

Incontinentia Pigmenti Type II (IP2)

Abstract: Incontinentia pigmenti is a multisystem X-linked condition that is male lethal and therefore only affects girls. The condition is characterised by a vesicular erythematous skin rash and affects ectodermal structures (i.e. the skin, hair, teeth and nails). In addition the condition, in about 1/5 of patients, is associated with ocular abnormalities, which resemble exudative vitreoretinopathy and can cause neovascularisation and tractional retinal detachment [1].