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    Common Skin Conditions in Children: Noninfectious Rashes.
    FP Essent 2017 Feb;453:18-25
    University of North Carolina Chapel Hill School of Medicine Dermatology Residency Program, 410 Market St. Suite 400 CB#7715, Chapel Hill, NC 27516.
    Cutaneous adverse drug reactions are among the most common noninfectious rashes of childhood. Cutaneous adverse drug reactions are classified as morbilliform, urticarial, bullous, pustular, or psoriasiform. Atopic dermatitis is one of the most common inflammatory cutaneous eruptions, and is characterized by pruritus and flexural distribution. Read More

    A Multidisciplinary Approach to a Seven Year-Old Patient with Incontinentia Pigmenti: A Case Report and Five-Year Follow Up.
    J Dent (Tehran) 2016 Aug;13(4):295-301
    Assistant Professor, Department of Pediatric Dentistry, Faculty of Dentistry, Guilan University of Medical Sciences, Rasht, Iran.
    Incontinentia pigmenti is a rare inherited disorder involving abnormalities of the skin, hair, eyes, musculoskeletal system, central nervous system, and the teeth. Dental abnormalities are the most common manifestations of this disorder. The purpose of this case report was to present the clinical and radiological findings of a seven-year-old girl as well as the results of her five-year follow up. Read More

    Ocular manifestations in the X-linked intellectual disability syndromes.
    Ophthalmic Genet 2017 Jan 23:1-12. Epub 2017 Jan 23.
    e Greenwood Genetic Center, JC Self Research Institute of Human Genetics , Greenwood , South Carolina , USA.
    Intellectual disability (ID), a common neurodevelopmental disorder characterized by limitations of both intellectual functioning and adaptive behavior, affects an estimated 1-2% of children. Genetic causes of ID are often accompanied by recognizable syndromal patterns. The vision apparatus is a sensory extension of the brain, and individuals with intellectual disabilities frequently have coexisting abnormalities of ocular structures and the visual pathway system. Read More

    ASSESSMENT OF THE RETINAL STRUCTURE IN CHILDREN WITH INCONTINENTIA PIGMENTI.
    Retina 2017 Jan 12. Epub 2017 Jan 12.
    *Department of Ophthalmology, Duke University School of Medicine, Durham, North Carolina; and †Department of Biomedical Engineering, Pratt School of Engineering, Duke University, Durham, North Carolina.
    Purpose: This report aims at expanding the current knowledge of retinal microanatomy in children with incontinentia pigmenti using hand-held spectral domain optical coherence tomography (SDOCT).

    Methods: We reviewed OCT scans from 7 children (4 weeks-13 years) obtained either in the clinic or during an examination under anesthesia. The scans were analyzed for anatomical changes in the outer and inner retina, by certified graders. Read More

    New Insight Into the Pathogenesis of Cerebral Small-Vessel Diseases.
    Stroke 2017 Feb 12;48(2):520-527. Epub 2017 Jan 12.
    From the Institute for Experimental and Clinical Pharmacology and Toxicology, University of Lübeck, Germany (K.M., M.S.); INSERM U1038/BIG, CEA, Grenoble, France (G.C.); and Institute of Genetics and Biophysics, "Adriano Buzzati-Traverso", IGB-CNR, Naples, Italy (M.V.U.).

    Dental anomalies in 14 patients with IP: clinical and radiological analysis and review.
    Clin Oral Investig 2016 Oct 20. Epub 2016 Oct 20.
    Santa Casa de Misericórdia de Porto Alegre Hospital, Porto Alegre, RS, Brazil.
    Objectives: Current knowledge on dental anomalies in patients with incontinentia pigmenti (IP) has been obtained by examining case reports; however, an overall characterization of such alterations remains lacking. The objective of this study was to determine the frequency, type and location of dental alterations in IP using a case series.

    Methods: Fourteen patients (9 children and 5 adults) with a clinical diagnosis of IP who presented dental anomalies were included in this study. Read More

    Incontinentia Pigmenti presenting as a newborn eruption: two case presentations.
    Dermatol Online J 2016 Jun 15;22(6). Epub 2016 Jun 15.
    SUNY Downstate College of Medicine, Brooklyn, New York.
    Linear vesicles or papules in a newborn can be a presenting sign of incontinentia pigmenti (IP). In this report, we present two cases of neonates with cutaneous manifestations of incontinentia pigmenti. In one case, mild peripheral eosinophilia was noted. Read More

    Incontinentia Pigmenti; a Rare Multisystem Disorder: Case Report of a 10-Year-Old Girl.
    J Dent (Shiraz) 2016 Sep;17(3):233-7
    Dept. of Pediatric Dentistry, School of Dentistry, Kashan University of Medical Sciences, Kashan, Iran.
    Incontinentia pigmenti is a rare genodermatosis in which the skin involvement occurs in all patients. Additionally, other ectodermal tissues may be affected such as the central nervous system, eyes, hair, nails and teeth. The disease has an X-linked dominant inheritance pattern. Read More

    Super-resolution microscopy reveals a preformed NEMO lattice structure that is collapsed in incontinentia pigmenti.
    Nat Commun 2016 Sep 2;7:12629. Epub 2016 Sep 2.
    Faculty of Health Sciences, Division of Chemical Systems and Synthetic Biology, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, Anzio Road, Observatory, Cape Town, Western Cape 7925, South Africa.
    The NF-κB pathway has critical roles in cancer, immunity and inflammatory responses. Understanding the mechanism(s) by which mutations in genes involved in the pathway cause disease has provided valuable insight into its regulation, yet many aspects remain unexplained. Several lines of evidence have led to the hypothesis that the regulatory/sensor protein NEMO acts as a biological binary switch. Read More

    Genetic Disorders with Dyshidrosis: Ectodermal Dysplasia, Incontinentia Pigmenti, Fabry Disease, and Congenital Insensitivity to Pain with Anhidrosis.
    Curr Probl Dermatol 2016 30;51:42-9. Epub 2016 Aug 30.
    Department of Dermatology, Graduate School of Medicine, Osaka University, Osaka, Japan.
    Sweating is regulated by various neurohormonal mechanisms. A disorder in any part of the sweating regulatory pathways, such as the thermal center, neurotransmitters in the central to peripheral nerve, innervation of periglandular neurotransmission, and sweat secretion in the sweat gland itself, induces dyshidrosis. Therefore, hereditary disorders with dyshidrosis result from a variety of causes. Read More

    [Incontinentia pigmenti : Herpes simplex infection as an important differential diagnosis in the neonatal period].
    Hautarzt 2017 Feb;68(2):149-152
    Universitäts-Hautklinik, Schittenhelmstr. 7, 24105, Kiel, Deutschland.
    In this article we present the case of a 2-day-old newborn girl in good general condition, with herpetic arranged pustules on the skin of her whole body. The case highlights the importance of a detailed diagnostic workup for newborns with pustular skin disease. Especially to differentiate between the diagnosis of incontinentia pigmenti and a congenital herpes infection. Read More

    NEMO regulates a cell death switch in TNF signaling by inhibiting recruitment of RIPK3 to the cell death-inducing complex II.
    Cell Death Dis 2016 Aug 25;7(8):e2346. Epub 2016 Aug 25.
    Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso' (CNR), Naples 80131, Italy.
    Incontinentia Pigmenti (IP) is a rare X-linked disease characterized by early male lethality and multiple abnormalities in heterozygous females. IP is caused by NF-κB essential modulator (NEMO) mutations. The current mechanistic model suggests that NEMO functions as a crucial component mediating the recruitment of the IκB-kinase (IKK) complex to tumor necrosis factor receptor 1 (TNF-R1), thus allowing activation of the pro-survival NF-κB response. Read More

    SUCCESSFUL TREATMENT OF REFRACTORY PROLIFERATIVE RETINOPATHY OF INCONTINENTIA PIGMENTI BY INTRAVITREAL RANIBIZUMAB AS ADJUNCT THERAPY IN A 4-YEAR-OLD CHILD.
    Retin Cases Brief Rep 2016 Jul 28. Epub 2016 Jul 28.
    Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong.
    Purpose: To describe a case of incontinentia pigmenti with proliferative retinopathy successfully treated by combination of repeated retinal laser photocoagulation and intravitreal ranibizumab injection.

    Methods: Single interventional case report of a 4-year-old girl, known case of incontientia pigmenti, first screened at the age of two, presented with proliferative retinopathy. Sole treatment by panretinal laser photocoagulation failed to control the progression of retinal neovascularization. Read More

    Myeloid Deletion of Nemo Causes Osteopetrosis in Mice Owing to Upregulation of Transcriptional Repressors.
    Sci Rep 2016 Jul 20;6:29896. Epub 2016 Jul 20.
    Department of Orthopaedic Surgery, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA.
    The transcription factor NF-κB is central to numerous physiologic processes including bone development, and its activation is controlled by IKKγ (also called NEMO), the regulatory subunit of IKK complex. NEMO is X-linked, and mutations in this gene result in Incontinentia Pigmenti in human hemizygous females. In mice, global deficiency causes embryonic lethality. Read More

    Neurocutaneous syndromes.
    Handb Clin Neurol 2016 ;135:565-89
    Division of Neuroradiology, Russell H. Morgan Department of Radiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address:
    Neurocutaneous syndromes (or phakomatoses) are a diverse group of congenital disorders that encompass abnormalities of neuroectodermal and, sometimes, mesodermal development, hence commonly involving the skin, eye, and central nervous system. These are often inherited conditions and typically present in early childhood or adolescence. Some of the abnormalities and clinical symptoms may, however, be progressive, and there is an increased risk of neoplastic formation in many of the syndromes. Read More

    Incontinentia Pigmenti with Persistent Hypercalcemia: Case Report.
    Pediatr Dermatol 2016 Sep 14;33(5):e315-7. Epub 2016 Jul 14.
    McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland.
    Incontinentia pigmenti (IP) is an X-linked dominant disorder that in most cases is considered lethal in males. IP affects the skin, hair, teeth, nails, eyes, and central nervous system. We report a case of persistent hypercalcemia (10. Read More

    Incontinentia Pigmenti Coxsackium.
    Pediatr Dermatol 2016 Sep 11;33(5):e280-1. Epub 2016 Jul 11.
    Department of Dermatology, Johns Hopkins Medicine, Baltimore, Maryland.
    Late recurrences of first-stage inflammatory vesiculobullous lesions of incontinentia pigmenti (IP) are uncommon but have been reported to occur in the setting of infections, fevers, and vaccinations. This phenomenon has not been described in the setting of atypical hand, foot, and mouth disease (HFMD). In addition, atypical HFMD often has a predilection for areas of previous inflammation or trauma, such as areas of atopic dermatitis (eczema coxsackium). Read More

    Cognitive-behavioural phenotype in a group of girls from 1.2 to 12 years old with the Incontinentia Pigmenti syndrome: Recommendations for clinical management.
    Appl Neuropsychol Child 2016 Jun 7:1-8. Epub 2016 Jun 7.
    e Institute of Genetics and Biophysics "Adriano Buzzati Traverso," Naples , Italy.
    Incontinentia Pigmenti (IP, OMIM#308300) is a rare X-linked genomic disorder (about 1,400 cases) that affects the neuroectodermal tissue and Central Nervous System (CNS). The objective of this study was to describe the cognitive-behavioural profile in children in order to plan a clinical intervention to improve their quality of life. A total of 14 girls (age range: from 1 year and 2 months to 12 years and 10 months) with IP and the IKBKG/NEMO gene deletion were submitted to a cognitive assessment including intelligence scales, language and visuo-spatial competence tests, learning ability tests, and a behavioural assessment. Read More

    Reticulated, Hyperchromic Rash in a Striated Pattern Mimicking Atopic Dermatitis and Fungal Infection in a 2-Month-Old Female: A Case of Incontinentia Pigmenti.
    Case Rep Pediatr 2016 19;2016:9512627. Epub 2016 Apr 19.
    Department of Pediatrics, The Commonwealth Medical College, Scranton, PA 18509, USA.
    We present a 12-month-old Hispanic female with a reticulated, hyperchromic rash in a striated pattern appearing on upper and lower extremities and trunk and back since the age of 6 weeks. Over the next 10 months, the rash persisted. The rash did not respond to treatment with antifungals and steroids. Read More

    Fatal pulmonary arterial hypertension in an infant girl with incontinentia pigmenti.
    Pediatr Int 2016 May;58(5):394-396
    Department of Pediatrics, Shimane University Faculty of Medicine, Izumo City, Shimane, Japan.
    We report the case of an infant girl with incontinentia pigmenti (IP) complicated by fatal pulmonary arterial hypertension (PAH). She was diagnosed with IP, based on the presence of specific skin lesions, neonatal seizures, hypereosinophilia and a maternal family history of IP. At the age of 2 months, she was diagnosed with PAH on systolic heart murmur due to tricuspid valve regurgitation. Read More

    A brain microvasculature endothelial cell-specific viral vector with the potential to treat neurovascular and neurological diseases.
    EMBO Mol Med 2016 Jun 1;8(6):609-25. Epub 2016 Jun 1.
    Hubertus Wald Cancer Center, Department of Oncology and Hematology University Medical Center Hamburg-Eppendorf, Hamburg, Germany Department of Hematology and Oncology, Augsburg Medical Center, Augsburg, Germany
    Gene therapy critically relies on vectors that combine high transduction efficiency with a high degree of target specificity and that can be administered through a safe intravenous route. The lack of suitable vectors, especially for gene therapy of brain disorders, represents a major obstacle. Therefore, we applied an in vivo screening system of random ligand libraries displayed on adeno-associated viral capsids to select brain-targeted vectors for the treatment of neurovascular diseases. Read More

    Clinical presentation and spectrum of neuroimaging findings in newborn infants with incontinentia pigmenti.
    Dev Med Child Neurol 2016 Oct 28;58(10):1076-84. Epub 2016 Apr 28.
    Department of Neonatology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands.
    Aim: To report on the neurological presentation and neuroimaging findings in newborn infants with incontinentia pigmenti.

    Method: The clinical and neurological course including neuroimaging and follow-up data of eight newborn infants with the neurological phenotype of incontinentia pigmenti were retrospectively reviewed.

    Results: While the clinical picture was polymorphic, the neurological manifestations were defined as encephalopathic and comprised lethargy and seizures in all but one of the infants. Read More

    Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency.
    Clin Immunol 2016 Mar 23;164:52-6. Epub 2016 Jan 23.
    Center of Chronic Immunodeficiency, University Medical Center Freiburg, Germany; Center for Pediatrics and Adolescent Medicine, University Medical Center Freiburg, Germany. Electronic address:
    NF-κB essential modulator (NEMO) deficiency causes ectodermal dysplasia with immunodeficiency in males, while manifesting as incontinentia pigmenti in heterozygous females. We report a family with NEMO deficiency, in which a female carrier displayed skewed X-inactivation favoring the mutant NEMO allele associated with symptoms of Behçet's disease. Hematopoietic stem cell transplantation of an affected boy from this donor reconstituted an immune system with retained skewed X-inactivation. Read More

    Effectiveness of Corticosteroid Therapy for Acute Neurological Symptoms in Incontinentia Pigmenti.
    Pediatr Neurol 2016 Mar 18;56:55-8. Epub 2015 Dec 18.
    Department of Neonatology, Kanagawa Children's Medical Center, Yokohama city, Kanagawa Prefecture, Japan.
    Background: Incontinentia pigmenti is a rare neurocutaneous disorder that may result in neurological symptoms in addition to its characteristic skin rashes. The pathogenesis of central nervous system disorders in incontinentia pigmenti remains unclear, but it has been suggested that vascular abnormalities and inflammatory processes may play important roles. Notably, there is no established treatment for central nervous system disorders in incontinentia pigmenti. Read More

    Cerebral Arteriopathy in a Newborn With Incontinentia Pigmenti.
    Pediatr Neurol 2016 Jan 21;54:76-81. Epub 2015 Sep 21.
    Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
    Background: Incontinentia pigmenti is a rare X-linked neurocutaneous disorder that can present in the neonatal period with seizures and encephalopathy. Brain magnetic resonance imaging and magnetic resonance angiography may reveal cerebral infarction and arteriopathy.

    Patient Description: We describe a neonate with the typical rash of incontinentia pigmenti along with seizures and brain magnetic resonance imaging abnormalities. Read More

    Mosaic Neurocutaneous Disorders and Their Causes.
    Semin Pediatr Neurol 2015 Dec 12;22(4):207-33. Epub 2015 Nov 12.
    Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy; Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.
    Neurocutaneous disorders are a heterogeneous group of conditions (mainly) affecting the skin [with pigmentary/vascular abnormalities and/or cutaneous tumours] and the central and peripheral nervous system [with congenital abnormalities and/or tumours]. In a number of such disorders, the skin abnormalities can assume a mosaic patterning (usually arranged in archetypical patterns). Alternating segments of affected and unaffected skin or segmentally arranged patterns of abnormal skin often mirror similar phenomena occurring in extra-cutaneous organs/tissues [eg, eye, bone, heart/vessels, lung, kidney and gut]. Read More

    IKBKG Mutation With Incontinentia Pigmenti and Ring-Enhancing Encephalopathy.
    JAMA Neurol 2015 Dec;72(12):1533-5
    Department of Neurology and Neurotherapeutics, The University of Texas Southwestern Medical Center, Dallas2Department of Pediatrics, The University of Texas Southwestern Medical Center, Dallas6Eugene McDermott Center for Human Growth & Development/Center.

    Hypomelanosis of Ito.
    Handb Clin Neurol 2015 ;132:281-9
    Department of Neurology, Nationwide Children's Hospital, Columbus, OH, USA. Electronic address:
    Hypomelanosis of Ito, initially referred to as incontinentia pigmenti achromians, is a rare neurocutaneous disorder. Hypopigmented lesions following the lines of Blaschko are usually the presenting feature. Multiple organ systems can be involved including brain, musculoskeletal, cardiovascular, eyes, kidneys, and teeth. Read More

    Incontinentia pigmenti (Bloch-Sulzberger syndrome).
    Handb Clin Neurol 2015 ;132:271-80
    Neurology Research, Barrow Neurological Institute, Phoenix, AZ, USA; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA; Arizona Pediatric Neurology and Neurogenetics Associates, Phoenix, AZ, USA. Electronic address:
    Incontinentia pigmenti (IP; Bloch-Sulzberger syndrome; OMIM #308300) is an X-linked dominant neurocutaneous disorder with presumed male lethality. It is usually diagnosed in female newborns based on skin features (erythematous, vesicular, or bullous eruption in linear streaks). The skin lesions evolve into a verrucous stage, followed by atrophy and scarring, leaving linear areas of hypopigmentation and hyperpigmented macules in bizarre patterns following Blaschko's lines. Read More

    Clinical study of 20 patients with incontinentia pigmenti.
    Int J Dermatol 2016 Feb 6;55(2):e87-93. Epub 2015 Nov 6.
    Section of Dermatology, Federal University of Health Sciences of Porto Alegre, Porto Alegre, Brazil.
    Background: Incontinentia pigmenti (IP) is a rare genodermatosis with early prenatal lethality in affected males. Clinical manifestations are usually more exuberant in sporadic than in familial cases. Cutaneous manifestations occur in all sporadic cases and about 96% of familial cases. Read More

    The categories of cutaneous mosaicism: A proposed classification.
    Am J Med Genet A 2016 Feb 22;170A(2):452-9. Epub 2015 Oct 22.
    Department of Dermatology, Freiburg University Medical Center, Freiburg, Germany.
    Mosaic disorders can most easily be studied in the skin. This article presents a comprehensive overview of the different forms of cutaneous mosaicism. Major categories are genomic versus epigenetic mosaicism and nonsegmental versus segmental mosaicism. Read More

    Improved molecular diagnosis of the common recurrent intragenic deletion mutation in IKBKG in a Filipino family with incontinentia pigmenti.
    Australas J Dermatol 2016 May 6;57(2):150-3. Epub 2015 Oct 6.
    St John's Institute of Dermatology, King's College London, London, UK.
    Incontinentia pigmenti is a rare, multisystem X-linked dominant genetic disorder caused by mutations in IKBKG, the encoding inhibitor of kappa light polypeptide gene enhancer in B-cells. Almost 80% of all cases result from a recurrent intragenic deletion mutation that removes exon 4-10. At present, this mutation can be detected by a multi-primer polymerase chain reaction (PCR) technique although current protocols may preferentially amplify the wild-type allele and miss the deletion. Read More

    Unique subungueal keratoacanthoma revealing incontinentia pigmenti.
    J Eur Acad Dermatol Venereol 2016 Aug 21;30(8):1401-3. Epub 2015 Sep 21.
    Reference center for genodermatoses and rare skin diseases (MAGEC), Department of Dermatology, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.

    Brain endothelial TAK1 and NEMO safeguard the neurovascular unit.
    J Exp Med 2015 Sep 7;212(10):1529-49. Epub 2015 Sep 7.
    Institute of Experimental and Clinical Pharmacology and Toxicology and Department of Radiation Oncology, University of Lübeck, 23562 Lübeck, Germany German Research Centre for Cardiovascular Research (DZHK), Partner Site Hamburg/Lübeck/Kiel, 23562 Lübeck, Germany
    Inactivating mutations of the NF-κB essential modulator (NEMO), a key component of NF-κB signaling, cause the genetic disease incontinentia pigmenti (IP). This leads to severe neurological symptoms, but the mechanisms underlying brain involvement were unclear. Here, we show that selectively deleting Nemo or the upstream kinase Tak1 in brain endothelial cells resulted in death of endothelial cells, a rarefaction of brain microvessels, cerebral hypoperfusion, a disrupted blood-brain barrier (BBB), and epileptic seizures. Read More

    EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-κB pathway can cause immunodeficiency and/or inflammation.
    Int Rev Immunol 2015 13;34(6):445-59. Epub 2015 Aug 13.
    a Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso' , IGB-CNR, Naples , Italy.
    Anhidrotic Ectodermal Dysplasia with ImmunoDeficiency (EDA-ID, OMIM 300291) and Incontinentia Pigmenti (IP, OMIM 308300) are two rare diseases, caused by mutations of the IKBKG/NEMO gene. The protein NEMO/IKKγ is essential for the NF-κB activation pathway, involved in a variety of physiological and cellular processes, such as immunity, inflammation, cell proliferation, and survival. A wide spectrum of IKBKG/NEMO mutations have been identified so far, and, on the basis of their effect on NF-κB activation, they are considered hypomorphic or amorphic (loss of function) mutations. Read More

    What's new with common genetic skin disorders?
    Curr Opin Pediatr 2015 Aug;27(4):460-5
    Department of Dermatology, Medical Genetics and Pediatric and Adolescent Medicine, Rochester, Minnesota, USA.
    Purpose Of Review: Common genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis, basal cell nevus syndrome (BCNS), incontinentia pigmenti, and X-linked ichthyosis have recognizable, cutaneous features. In children, cases often present without a prior diagnosis. This review highlights new information about diagnostic signs and care of affected patients. Read More

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