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Zhonghua Yan Ke Za Zhi 2019 Apr;55(4):294-301

Beijing Key Laboratory of Vision Loss and Restoration, Ministry of Education, Department of Ophthalmology, People's Hospital, Peking University, Beijing 100044, China.

To investigate the treatment of retinopathy of incontinentia pigmenti by anti-vascular endothelial growth factor. Retrospective study of 5 patients(8 eyes) diagnosed retinopathy of incontinentia pigmenti from 2005 to 2017, including 0 males and 5 females (8 eyes involved) with an average age of 2.4 months(range, 1-5 months). Read More

Arch Oral Biol 2019 May 18;101:100-107. Epub 2019 Mar 18.

Department of Prosthodontics, Peking University School and Hospital of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Laboratory for Digital and Material Technology of Stomatology & Beijing Key Laboratory of Digital Stomatology, 22 Zhongguancun South Avenue, Haidian District, Beijing 100081, PR China. Electronic address:

Objective: To explore the gene mutation in an incontinentia pigmenti (IP) patient with syndromic tooth agenesis.

Methods: Long-range polymerase chain reaction (PCR) and Sanger sequencing were used to detect inhibitor of nuclear factor kappa-B kinase subunit gamma (IKBKG) mutation in the IP patient. We used the nuclear factor kappa B (NF-κB) reporter gene to assess activation of NF-κB, after transfecting an empty vector, wild-type, or mutant NF-κB essential modulator (NEMO) plasmid into IKBKG-deficient HEK293T cells, respectively. Read More

J Am Acad Dermatol 2019 Mar 21. Epub 2019 Mar 21.

Division of Pediatric Medicine, Section of Dermatology, Hospital for Sick Children, University of Toronto; 555 University Ave, Toronto, Ontario, M5G 1X8, Canada. Electronic address:

Background: Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis that affects multiple systems with highly variable phenotypic expressivity. Although most affected individuals carry a common pathogenic variant on the IKBKG gene, approximately 20% have no identifiable mutation.

Objective: To describe clinical characteristics and genotype of IP patients and compare clinical differences between IKBKG pathogenic variant positive and negative cohorts. Read More

JAMA Ophthalmol 2019 Mar 14;137(3):e184197. Epub 2019 Mar 14.

Department of Ophthalmology and Laboratory for Visual Science, National Center for Child Health and Development, Tokyo, Japan.

Iran J Kidney Dis 2019 Jan;13(1):67-70

Departments of Pediatric Nephrology, Mersin University Faculty of Medicine, Mersin, Turkey.

Multicystic dysplastic kidney is a congenital kidney malformation consisting of multiple cysts of various sizes without a normal kidney morphology. Incontinentia pigmenti is a rare X-linked dominant genodermatosis, which is usually lethal in males, that presents clinically in 4 stages. Here, we report a case of multicystic dysplastic kidney with ureterovesical junction obstruction and incontinentia pigmenti. Read More

Ophthalmic Surg Lasers Imaging Retina 2019 02;50(2):e33-e37

No consensus exists for the treatment of retinopathy in incontinentia pigmenti (IP). Vascular ischemia leads to tractional retinal detachments if untreated. Ultra-widefield fluorescein angiography (FA) is used to follow the vascular status of the retina. Read More

Actas Dermosifiliogr 2019 Jan 17. Epub 2019 Jan 17.

Institute of Genetics and Biophysics «Adriano Buzzati-Traverso», IGB-CNR, Nápoles, Italia.

Incontinentia pigmenti (Bloch-Sulzberger syndrome) is a rare neuroectodermal dysplasia. It is an X-linked dominant disorder caused by mutations in the IKBKG/NEMO gene on Xq28. Approximately 80% of patients have a deletion of exons 4 to 10. Read More

Bone 2019 Apr 16;121:243-254. Epub 2019 Jan 16.

Department of Clinical Research, Faculty of Health, University of Southern Denmark (SDU), Winsløwparken 19. 3, DK-5000 Odense C, Denmark; Department of Clinical Genetics, Odense University Hospital, J.B. Winsløws Vej 4, DK-5000 Odense C, Denmark. Electronic address:

Background: NF-κB essential modulator (NEMO), encoded by IKBKG, is necessary for activation of the ubiquitous transcription factor nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB). Animal studies suggest NEMO is required for NF-κB mediated bone homeostasis, but this has not been thoroughly studied in humans. IKBKG loss-of-function mutation causes incontinentia pigmenti (IP), a rare X-linked disease featuring linear hypopigmentation, alopecia, hypodontia, and immunodeficiency. Read More

Taiwan J Ophthalmol 2018 Oct-Dec;8(4):181-188

Department of Ophthalmology, University of Occupational and Environmental Health, Kitakyushu, Japan.

Foveal hypoplasia is a retinal disorder in which there is a lack of full development of the morphology of the fovea. The optical coherence tomography (OCT) and functional findings are presented in relation to the underlying genetic and developmental conditions. Recent advancements of high-resolution OCT imaging have unveiled characteristics of foveal hypoplasia that were not detected by conventional imaging methods. Read More

Pediatr Neurol 2019 Mar 23;92:76-77. Epub 2018 Nov 23.

Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

J Clin Invest 2019 Feb 18;129(2):583-597. Epub 2018 Dec 18.

Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.

X-linked dominant incontinentia pigmenti (IP) and X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) are caused by loss-of-function and hypomorphic IKBKG (also known as NEMO) mutations, respectively. We describe a European mother with mild IP and a Japanese mother without IP, whose 3 boys with EDA-ID died from ID. We identify the same private variant in an intron of IKBKG, IVS4+866 C>T, which was inherited from and occurred de novo in the European mother and Japanese mother, respectively. Read More

JAMA Ophthalmol 2018 Nov 8;136(11):e183140. Epub 2018 Nov 8.

Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, England.

Br J Dermatol 2019 Mar 2;180(3):674-675. Epub 2018 Dec 2.

Department of Translational Medical Sciences, Federico II University, via S. Pansini 5-80131, Napoli, Italy.

G Ital Dermatol Venereol 2018 Oct 3. Epub 2018 Oct 3.

Plastic and Reconstructive Surgery Unit, Campus Bio-Medico University, Rome, Italy.

JAAD Case Rep 2018 Aug 17;4(7):737-741. Epub 2018 Aug 17.

Department of Dermatology, Yale School of Medicine, New Haven, Connecticut.

BMC Pediatr 2018 Aug 29;18(1):286. Epub 2018 Aug 29.

Aix Marseille University, INSERM, GMGF, Marseille, France.

Background: Noonan syndrome (NS) is an autosomal dominant multisystem disorder caused by the dysregulation of several genes belonging to the RAS Mitogen Activated Protein Kinase (MAPK) signaling pathway. Incontinentia Pigmenti (IP) is an X-linked, dominantly inherited multisystem disorder.

Case Presentation: This study is the first report of the coexistence of Noonan (NS) and Incontinentia Pigmenti (IP) syndromes in the same patient. Read More

Am J Med Genet A 2018 Nov 27;176(11):2318-2324. Epub 2018 Aug 27.

Postgraduate Program in Genetics and Molecular Biology, Department of Genetics, Biosciences Institute, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.

Incontinentia Pigmenti (IP) is an X-linked rare genodermatosis caused by mutations in the IKBKG gene, which is essential to NF-κB pathway activation and thus fundamental for cell survival. Our objective was to study the intrafamilial clinical variability in IP by investigating how the signs of IP, and especially dental anomalies, vary within affected families. Four families, encompassing a total of 15 IP familial cases, were included in the study. Read More

J Pediatr Neurosci 2018 Apr-Jun;13(2):270-272

Child Neurology Division, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.

Incontinentia pigmenti (IP) is a rare X-linked multisystem disease caused because of mutation in the (inhibitor of kappa-B kinase gamma, previously ) gene. Involvement of central nervous system is seen in approximately one-third of these patients. Ischemic strokes, symptomatic seizures, and encephalopathy can be seen during neonatal or early infancy age group. Read More

Acta Ophthalmol 2019 May 3;97(3):265-272. Epub 2018 Aug 3.

Department of Ophthalmology, Xin Hua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

Purpose: To characterize ocular manifestations in a cohort of paediatric patients with incontinentia pigmenti (IP) and to define the guidelines for grading of IP-associated retinopathy (IPR).

Methods: This retrospective review was performed on patients under the age of 18 years with a diagnosis of IP. Data included demographics, medical history, ocular examination, and accessory examination. Read More

Pulm Circ 2018 Oct-Dec;8(4):2045894018793983. Epub 2018 Jul 23.

1 Department of Pediatric Cardiology, Necker Enfants Malades Hospital, Paris, France.

Incontinentia pigmenti (IP) is a multisystemic disorder in which pulmonary arterial hypertension (PAH) is a severe and rarely reported association. The prognosis has been poor in reported cases. In our patient, IP was diagnosed during the neonatal period with a combination of cutaneous, ophthalmic, and neurological symptoms. Read More

Case Rep Pediatr 2018 13;2018:1376910. Epub 2018 Jun 13.

Neonatal Health Research Center, Research Institute for Children Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Incontinentia pigmenti (IP) is an X-linked dominant neurocutaneous syndrome with ophthalmologic, neurologic, cutaneous, and dental manifestations and in most cases antenatally lethal in boys. Occasionally, typical IP may occur in boys due to Klinefelter syndrome or a genomic mosaicism. Skin lesions are observed in 4 stages: blistering, verrucous linear plaques, swirling macular hyperpigmentation, followed by linear hypopigmentation that develop during adolescence and early adulthood. Read More

Dermatol Surg 2018 10;44(10):1355-1357

Department of Dermatology, College of Medicine, Dankook University, Cheonan, Republic of Korea.

J Dermatol 2019 Jan 20;46(1):e26-e28. Epub 2018 Jun 20.

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

J Formos Med Assoc 2018 Oct 18;117(10):946. Epub 2018 Jun 18.

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

J Dermatol 2018 Aug 24;45(8):1017-1019. 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 04;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 Aug 6;22(4):325-327.e3. 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 Nov 8;59(4):e262-e265. 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

Bull Tokyo Dent Coll 2017 ;58(4):259-267

Department of Orthodontics, Tokyo Dental College.

We performed orthodontic treatment, fitted prostheses, and provided restorative treatment in a patient with Bloch-Sulzberger syndrome and cleft lip and palate during the early mixed dentition period. We report the case after a subsequent 6-year retention phase including the period of pubertal growth. A girl aged 8 years 4 months visited our hospital with the chief complaint of crowding of the anterior teeth and anterior crossbite. 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 03 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 04 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

Cutis 2017 Aug;100(2):E17-E19

University of New Mexico School of Medicine, Albuquerque, USA.

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

Pediatr Rev 2017 Sep;38(9):e32-e34

Department of Pediatrics, University of Michigan C.S. Mott Children's Hospital, Ann Arbor, MI.

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