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J Dermatol 2018 Jun 20. Epub 2018 Jun 20.

Department of Dermatology, Nippon Medical School Hospital, Tokyo, Japan.

J Formos Med Assoc 2018 Jun 16. Epub 2018 Jun 16.

School of Life Science, Jilin University, Changchun, China.

J Dermatol 2018 May 24. Epub 2018 May 24.

Department of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Japan.

Nuclear factor (NF)-κB essential modifier (NEMO), also known as IκB kinase subunit-γ (IKKγ), is a pivotal molecule in the NF-κB signaling pathway. Mutations of NEMO cause incontinentia pigmenti and X-linked ectodermal dysplasia with immunodeficiency. Mendelian susceptibility to mycobacterial diseases (MSMD), which confers an almost selective predisposition to mycobacterial infection, is also caused by NEMO mutations. Read More

Ophthalmic Surg Lasers Imaging Retina 2018 Apr;49(4):273-275

Incontinentia pigmenti (IP) is a rare X-linked dominant disorder that can cause retinal nonperfusion, neovascularization, and retinal detachment. Evaluation of the peripheral retinal vasculature and appropriate treatment can reduce the risk of blindness. The authors report the use of a handheld prototype optical coherence tomography angiography (OCTA) and ultra-widefield OCT (UWF-OCT) during exam under anesthesia of a 2-year-old with a history of severe early onset IP. Read More

J AAPOS 2018 Apr 6. Epub 2018 Apr 6.

Department of Ophthalmology, Xin Hua Hospital of Jiaotong University, Shanghai, People's Republic of China.

Incontinentia pigmenti (IP) is a rare X-linked multisystem disorder that mainly affects females and is usually lethal to males in utero. Mutations in the NEMO gene on chromosome Xq28 (IKBKG, inhibitor of kB kinase gamma) have been shown to cause IP. Approximately 35% of patients have ophthalmic manifestations, and 20% develop vision-threatening diseases. Read More

JAMA Ophthalmol 2018 May;136(5):467-472

Wilmer Eye Institute, Johns Hopkins University, Baltimore, Maryland.

Importance: Incontinentia pigmenti (IP) is a rare, X-linked dominant disease with potentially severe ocular complications that predominantly affect the peripheral retina. However, little is known about its effects on the macula.

Objective: To describe the structural and vascular abnormalities observed in the maculas of patients with IP and to correlate these findings with peripheral pathologies. Read More

Australas J Dermatol 2018 Mar 8. Epub 2018 Mar 8.

Department of Dermatology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.

We describe a new mutation in exon 4 of IKBKG, encoding nuclear factor-kappa B in a patient with incontinentia pigmenti. The patient had a severe cholestatic liver disease with features of a ciliopathy and underwent liver transplantation. We cannot establish a link between incontinentia pigmenti, a very rare disease, and hepatic ciliopathy, but we suggest that hepatic evaluation should be considered in patients with incontinentia pigmenti. Read More

Int J Trichology 2018 Jan-Feb;10(1):24-25

Departments of Dermatology, Wrexham Maelor Hospital, Wrexham, Wales, UK.

Incontinentia pigmenti (IP) is a rare X-linked dominant disease that affects the ectodermal tissues. It is associated with a whorled pattern of scarring alopecia, which is possibly underreported. This scarring alopecia could be used as a marker to identify adult women affected with IP as older patients may have minimal cutaneous manifestations. Read More

Continuum (Minneap Minn) 2018 02;24(1, Child Neurology):96-129

Purpose Of Review: This article presents an up-to-date summary of the genetic etiology, diagnostic criteria, clinical features, and current management recommendations for the most common neurocutaneous disorders encountered in clinical adult and pediatric neurology practices.

Recent Findings: The phakomatoses are a phenotypically and genetically diverse group of multisystem disorders that primarily affect the skin and central nervous system. A greater understanding of the genetic and biological underpinnings of numerous neurocutaneous disorders has led to better clinical characterization, more refined diagnostic criteria, and improved treatments in neurofibromatosis type 1, Legius syndrome, neurofibromatosis type 2, Noonan syndrome with multiple lentigines, tuberous sclerosis complex, Sturge-Weber syndrome, and incontinentia pigmenti. Read More

J Epilepsy Res 2017 Dec 31;7(2):118-120. Epub 2017 Dec 31.

Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.

Incontinentia pigmenti (IP) is an uncommon neurocutaneous syndrome. Its initial diagnosis is based primarily on characteristic papulovesicular skin lesions and early-onset neonatal seizures. In contrast to typical early neurologic manifestations, we encountered a normally developed 6-month-old female patient with hyperpigmented whorls on her body. Read More

Am J Ophthalmol Case Rep 2017 Jun 26;6:27-29. Epub 2016 Dec 26.

Byers Eye Institute, Horngren Family Vitreoretinal Center, Dept. of Ophthalmology, Stanford University School of Medicine, Palo Alto, CA, United States.

Purpose: To describe a patient with incontinentia pigmenti (IP) and Raynaud's phenomenon (RP).

Observations: A 5 year-old girl with history of IP was noted to have RP. Visual acuity was unaffected in both eyes, and fundus examination demonstrated regressed peripheral neovascularization. Read More

Int J Dermatol 2018 Jan 2;57(1):40-45. Epub 2017 Dec 2.

Dermatology Unit, Academic Department of Pediatrics, Children's Hospital Bambino Gesù -IRCCS, Rome, Italy.

Background: Incontinentia pigmenti (IP) is a rare inherited genodermatosis that usually involves the skin, and also teeth, oral cavity, central nervous system, eyes, blood with eosinophilia, and rarely skeletal system, breast, heart, and lungs. Skin lesions usually appear early, at birth or within the first 2 weeks of life, with four different phases tending to follow Blaschko lines that may overlap.

Case Report: We report a rare case of a neonate with transient reversible pulmonary hypertension that presented at day 9 of life. Read More

Pediatr Blood Cancer 2018 Mar 24;65(3). Epub 2017 Nov 24.

Division of Hematology/Oncology, Department of Pediatrics, Seattle Children's Hospital, University of Washington School of Medicine, Fred Hutchinson Cancer Research Center, Seattle, Washington.

Incontinentia pigmenti (IP) is a genetic disorder caused by mutations in IKBKG, leading to functional loss of nuclear factor kappa B (NF-ĸB). We report the case of a 6-month-old female child with IP who presented with unilateral nystagmus and was found to have a pilocytic astrocytoma with leptomeningeal spread. Enhanced understanding of the relationship between NF-ĸB, along with its upstream regulators, and tumorigenesis may shed light on whether a subset of patients with IP may be at increased risk for neoplasia. Read More

J Fr Ophtalmol 2017 Dec 20;40(10):e397-e399. Epub 2017 Nov 20.

Service d'ophtalmologie, hôpitaux universitaires de Genève, rue Alcide-Jentzer 22, 1211 Genève 14, Suisse.

Trends Mol Med 2017 12 8;23(12):1138-1155. Epub 2017 Nov 8.

Institute of Experimental Internal Medicine, Otto von Guericke University, Magdeburg, Germany. Electronic address:

The nuclear factor (NF)-κB essential modulator (NEMO) is a key regulator in NF-κB-mediated signaling. By transmitting extracellular or intracellular signals, NEMO can control NF-κB-regulated genes. NEMO dysfunction is associated with inherited diseases such as incontinentia pigmenti (IP), ectodermal dysplasia, anhidrotic, with immunodeficiency (EDA-ID), and some cancers. Read More

Br J Dermatol 2018 Apr 6;178(4):e261-e262. Epub 2018 Feb 6.

Department of Dermatology and Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), Université Paris Descartes - Sorbonne Paris Cité, INSERM U1163, Institut Imagine, Institut Imagine, Hôpital Universitaire Necker-Enfants Malades, Paris, France.

Ann Emerg Med 2017 Nov;70(5):746-755

Division of Pediatric Emergency Medicine, Medical University of South Carolina, Charleston, SC.

J Clin Immunol 2017 Nov 10;37(8):801-810. Epub 2017 Oct 10.

Department of Microbiology and Immunology, Experimental Laboratory Immunology, KU Leuven, Leuven, Belgium.

Hypomorphic IKBKG mutations in males are typically associated with anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). Some mutations cause immunodeficiency without EDA (NEMO-ID). The immunological profile associated with these NEMO-ID variants is not fully documented. Read More

Indian J Pathol Microbiol 2017 Jul-Sep;60(3):424-426

Department of Dermatology, Venereology and Leprosy, Christian Medical College, Vellore, Tamil Nadu, India.

Incontinentia pigmenti (IP) is a rare X-linked dominant disorder, in which skin lesions distributed along Blaschko's lines appear shortly after birth. Early lesions which are erythematous/bullous evolve over time into warty lesions, hyperpigmented swirls/macules, and atrophic hypopigmented streaks. Clinical features are heterogeneous. Read More

Int J Retina Vitreous 2017 18;3:34. Epub 2017 Sep 18.

Ocular Oncology Service, Suite 1440, Wills Eye Hospital, 840 Walnut Street, Philadelphia, PA 19107 USA.

Background: Incontinentia pigmenti is a rare X-linked dominant syndrome caused by mutation in the NEMO/IKKgamma gene, and characterized by a spectrum of cutaneous, ocular, neurologic and dental abnormalities. In the eye, findings include retinal vascular non-perfusion, occasionally with traction retinal detachment, retinal fibrosis, and retinal pigment epithelium defects. These findings can resemble retinoblastoma, especially when vitreoretinal fibrosis produces leukocoria. Read More

J Pediatr Health Care 2017 Nov - Dec;31(6):e45-e52. Epub 2017 Sep 1.

Incontinentia pigmenti is a rare neuroectodermal dysplasia caused by a defect in the IKBKG gene (formerly known as NEMO). There are 27.6 new cases per year worldwide; 65% to 75% are sporadic mutations, and 25% to 35% are familial. Read More

Pediatrics 2017 09 9;140(3). Epub 2017 Aug 9.

Institute of Genetics and Biophysics "Adriano Buzzati-Traverso," IGB-CNR, Naples, Italy;

Incontinentia pigmenti (IP; Online Mendelian Inheritance in Man catalog #308300) is an X-linked dominant ectodermal disorder caused by mutations of the inhibitor of κ polypeptide gene enchancer in B cells, kinase γ ()/ nuclear factor κB, essential modulator () gene. Hemizygous loss-of-function (LoF) mutations are lethal in males, thus patients are female, and the disease is always transmitted from an IP-affected mother to her daughter. We present 2 families with father-to-daughter transmission of IP and provide for the first time molecular evidence that the combination of somatic and germ-line mosaicism for loss of function mutations in IP males resulted in the transmission of the disease to a female child. Read More

J Dermatol 2018 Jan 9;45(1):100-103. Epub 2017 Aug 9.

Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.

Incontinentia pigmenti (IP) is an X-linked genodermatosis affecting the skin and other sites, including the teeth, nails, hair, eyes and nervous system defects in female patients. Generally lethal in males, there are only a few known cases of males surviving this condition. Nuclear factor (NF)-κB essential modulator (NEMO), also known as inhibitor of kappa light polypeptide gene enhancer in B cells, kinase gamma (IKBKG), constitutes an essential activator of NF-κB. Read More

Open Access Maced J Med Sci 2017 Jul 23;5(4):501-505. Epub 2017 Jul 23.

Universitario di Ruolo, Dipartimento di Scienze Dermatologiche, Università degli Studi di Firenze, Facoltà di Medicina e Chirurgia, Dermatology, Via Vittoria Colonna 11, Rome 00186, Italy.

Incontinentia Pigmenti is an uncommon X-linked genodermatosis, caused by mutations in the NEMO gene. It is a systemic disease that involves tissue of ectodermic and mesodermic origin, including cutaneous tissue, teeth, eyes and the central nervous system, amongst other organs. The Authors report a rare case of Incontinentia Pigmenti in a female newborn. Read More

Eur J Dent 2017 Apr-Jun;11(2):264-267

Medical Department, Medical School, China Medical University, Taichung, Taiwan.

Incontinentia pigmenti (IP) is a uncommon gene disorder, heritage with X-linked dominant mode. IP patients have a characteristic dentition varying from marked hypodontia to delayed eruption and conical crowns on both dentitions. A 5½-year-old girl, whose mother and younger sister were also diagnosed with IP, has the whirling-like pigmented skin lesion over her trunk and four extremities. Read More

Mol Genet Metab 2017 Nov 10;122(3):140-144. Epub 2017 Jul 10.

Department of Pediatric Radiology, Hôpital Necker Enfants Malades, AP-HP, 149 rue de Sèvres, 75105 Paris, France; INSERM U1000, 149 rue de Sèvres, 75015 Paris, France; UMR 1163, Institut Imagine, 24 boulevard du Montparnasse, 75015 Paris, France; University René Descartes, PRES Sorbonne Paris Cité, 12 rue de l'Ecole de Médecine, Paris, France.

Incontinentia Pigmenti (IP) is a skin disorder with neurological impairment in 30% of cases. The most common disease causing mutation is a deletion of exons 4-10 of the IKBKG gene, located on chromosome Xq28, with skewed X-chromosome inactivation in females, but few cases of random X-inactivation have been reported. We have correlated brain anomalies with X-chromosome inactivation status determined on leucocytes circulating DNA. Read More

J Clin Immunol 2017 Aug 12;37(6):529-538. Epub 2017 Jul 12.

Department of Pediatrics, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu, 501-1194, Japan.

Purpose: Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) is caused by mutations in the NF-κB essential modulator (NEMO) or NF-κB inhibitor, alpha (IKBA) genes. A heterozygous NEMO mutation causes incontinentia pigmenti (IP) in females, while a hemizygous hypomorphic mutation of NEMO causes EDA-ID in males. In general, immunodeficiency is not shown in IP patients. Read More

Indian J Ophthalmol 2017 Jun;65(6):533-535

Department of Research, Taichung Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation; Department of Laboratory Medicine, Taichung Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taichung; General Education Center, Tzu Chi University of Science and Technology, Hualien, Taiwan.

Incontinentia pigmenti (IP) is a rare disease with multisystemic anomalies, which commonly presents just after birth. Here, we report a rare case of IP patient with vitreous hemorrhage in school-age children. Therefore, physicians have to be alert and evaluate IP patients at all ages. Read More

Ann Neurol 2017 Jul;82(1):93-104

Institute for Experimental and Clinical Pharmacology and Toxicology, University of Lübeck, Lübeck, Germany.

Objective: Incontinentia pigmenti (IP) is a genetic disease leading to severe neurological symptoms, such as epileptic seizures, but no specific treatment is available. IP is caused by pathogenic variants that inactivate the Nemo gene. Replacing Nemo through gene therapy might provide therapeutic benefits. Read More

Ther Clin Risk Manag 2017 9;13:629-634. Epub 2017 May 9.

Division of Genetics, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz Uiversity for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (NGHA), Riyadh, Saudi Arabia.

Incontinentia pigmenti (IP; Bloch-Sulzberger syndrome) is a rare, genetic syndrome inherited as an X-linked dominant trait. It primarily affects female infants and is lethal in the majority of males during fetal life. The clinical findings include skin lesions, developmental defects, and defects of the eyes, teeth, skeletal system, and central nervous system. Read More

Minerva Pediatr 2017 Aug 20;69(4):288-297. Epub 2017 Apr 20.

Department of Dermatology, Rochester, MN, USA -

Familiar genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis complex (TSC), oculocutaneous albinism (OCA), basal cell nevus syndrome (BCNS), incontinentia pigmenti, ichthyosis, and epidermolysis bullosa (EB) have prominent, cutaneous manifestations. This review describes recent advances in knowledge concerning the pathophysiology, diagnosis, and treatment of these skin features. Specifically, clinical diagnostic criteria for incontinentia pigmenti, ichthyosis, and tuberous sclerosis have been updated. Read More

Pediatr Dermatol 2017 Jul 17;34(4):e203-e204. Epub 2017 Apr 17.

Department of Dermatology, Pennsylvania State University, Hershey, Pennsylvania.

We report the case of a 17-year-old girl with incontinentia pigmenti who developed multiple large hyperkeratotic tumors within Blaschkoid hyperpigmented patches on her left leg. Biopsy demonstrated an endoexophytic nodule with irregular invaginations of keratinizing squamous epithelium and a central keratin-filled crater, consistent with keratoacanthoma-like lesions of incontinentia pigmenti. The tumors were successfully treated with intralesional methotrexate. Read More

Dermatol Surg 2017 Dec;43(12):1501-1503

Department of Dermatology, York Hospital, York, United Kingdom Department of Dermatology, Chapel Allerton Hospital, Leeds, United Kingdom.

J Allergy Clin Immunol 2017 Dec 27;140(6):1671-1682.e2. Epub 2017 Feb 27.

INSERM U1163 Paris-Descartes University, Sorbonne Paris Cité, IMAGINE Institute, Necker Hospital Enfants-Malades, Paris, France. Electronic address:

Background: Incontinentia pigmenti (IP; MIM308300) is a severe, male-lethal, X-linked, dominant genodermatosis resulting from loss-of-function mutations in the IKBKG gene encoding nuclear factor κB (NF-κB) essential modulator (NEMO; the regulatory subunit of the IκB kinase [IKK] complex). In 80% of cases of IP, the deletion of exons 4 to 10 leads to the absence of NEMO and total inhibition of NF-κB signaling. Here we describe a new IKBKG mutation responsible for IP resulting in an inactive truncated form of NEMO. Read More

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

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

Ophthalmic Genet 2017 Sep-Oct;38(5):401-412. 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

Retina 2017 Aug;37(8):1568-1574

*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

Stroke 2017 02 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.).

JAMA Ophthalmol 2016 Nov 10;134(11):e162751. Epub 2016 Nov 10.

Casey Eye Institute, Oregon Health & Science University, Portland.

Eur J Dermatol 2016 Oct;26(5):504-506

Department of Dermatology, Medical Center- University of Freiburg, Germany.

Br J Dermatol 2016 Nov 24;175(5):1059-1060. Epub 2016 Jul 24.

St. John's Institute of Dermatology, King's College London, London, U.K.

Clin Oral Investig 2017 Jun 20;21(5):1845-1852. 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

Einstein (Sao Paulo) 2016 Jul-Sep;14(3):437-438

Maternidade Dr. Daniel de Matos, Coimbra, Portugal.

J Dermatol 2017 Aug 26;44(8):976-977. Epub 2016 Sep 26.

Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, Japan.

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

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

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

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