1,155 results match your criteria Incontinentia Pigmenti


Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.

J Clin Invest 2018 Nov 13. Epub 2018 Nov 13.

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 NEMO mutations, respectively. We describe a European mother with mild IP and a Japanese mother without IP, whose three boys with EDA-ID died of immunodeficiency. We identify the same private variant in an intron of IKBKG/NEMO, IVS4+866 C>T, which was inherited from and occurred de novo in the European and Japanese mothers, respectively. Read More

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November 2018
5 Reads
13.210 Impact Factor

Retinal Angiography Findings in Male Infant With Incontinentia Pigmenti and Sickle Cell Trait.

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.

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November 2018
4 Reads

A case of incontinentia pigmenti associated with congenital absence of portal vein system and nodular regenerative hyperplasia.

Br J Dermatol 2018 Oct 16. Epub 2018 Oct 16.

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

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October 2018
2 Reads

A case of basal cell carcinoma in a young patient with Incontinentia Pigmenti.

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

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

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October 2018
2 Reads

Effect of Bariatric Surgery on Urinary Incontinence in Obese Women: A Meta-analysis and Systematic Review.

Female Pelvic Med Reconstr Surg 2018 Aug 31. Epub 2018 Aug 31.

From the Departments of Urology and.

Objectives: The aim of this study was to explore the effectiveness of bariatric surgery in obese women with urinary incontinence (UI) through meta-analysis.

Methods: Searches of PubMed, the Cochrane Library, and EMBASE databases were performed using "weight loss surgery/bariatric surgery/gastric bypass surgery" and "incontinentia urinae/uracratia/urinary incontinence/uroclepsia" in the title/abstract before January 2018. Then, meta-analysis was analyzed by Review Manager 5. Read More

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A case of subungual tumors of incontinentia pigmenti: A rare manifestation and association with bipolar disease.

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

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

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August 2018
1 Read

Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome.

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

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August 2018
1 Read

Intrafamilial clinical variability in four families with incontinentia pigmenti.

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

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November 2018
3 Reads

Unilateral Cerebral Atrophy: Severe Neuroimaging Feature of Incontinentia Pigmenti without Acute Encephalopathic State.

Authors:
Debopam Samanta

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

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August 2018
7 Reads

Incontinentia pigmenti-associated ocular anomalies of paediatric incontinentia pigmenti patients in China.

Acta Ophthalmol 2018 Aug 3. 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

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August 2018
4 Reads
2.840 Impact Factor

A case of reversible pulmonary arterial hypertension associated with incontinentia pigmenti.

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

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July 2018
4 Reads

Incontinentia Pigmenti Misdiagnosed as Neonatal Herpes Simplex Virus Infection.

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

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June 2018
3 Reads

Successful Hair Transplantation for Scarring Alopecia Associated With Incontinentia Pigmenti.

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

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

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October 2018
3 Reads

Incontinentia pigmenti in a Japanese female infant with a novel frame-shift mutation in the IKBKG gene.

J Dermatol 2018 Jun 20. Epub 2018 Jun 20.

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

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June 2018
7 Reads

Comments on "NEMO Gene Mutations in Chinese Patients With Incontinentia Pigmenti".

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

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

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October 2018
1 Read

Cutaneous squamous cell carcinoma, thyroid cancer and Langerhans cell histiocytosis in a patient with X-linked recessive Mendelian susceptibility to mycobacterial diseases with a nuclear factor-κB essential modifier mutation.

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

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August 2018
5 Reads

Optical Coherence Tomography Angiography and Ultra-Widefield Optical Coherence Tomography in a Child With Incontinentia Pigmenti.

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

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April 2018
4 Reads

Intravitreal injection of ranibizumab in severe retinopathy of incontinentia pigmenti.

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

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August 2018
4 Reads

Multimodal Retinal Imaging in Incontinentia Pigmenti Including Optical Coherence Tomography Angiography: Findings From an Older Cohort With Mild Phenotype.

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

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May 2018
7 Reads

A novel IKBKG mutation in a patient with incontinentia pigmenti and features of hepatic ciliopathy.

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

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November 2018
5 Reads

Whorled Scarring Alopecia - The Only Adult Marker of Incontinentia Pigmenti.

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

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February 2018
1 Read

Neurocutaneous Disorders.

Authors:
Tena Rosser

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

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February 2018
8 Reads

A 6-Month-Old Girl with Incontinentia Pigmenti Presenting as Status Epilepticus.

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

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December 2017
3 Reads

Orthodontic Treatment for Bloch-Sulzberger Syndrome in Patient with Cleft Lip and Palate.

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

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November 2018
1 Read

Incontinentia pigmenti with secondary Raynaud's phenomenon: A case report and review of the literature.

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

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June 2017
5 Reads

Cardiopulmonary anomalies in incontinentia pigmenti patients.

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

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January 2018
8 Reads

Pilocytic astrocytoma with leptomeningeal spread in a patient with incontinentia pigmenti presenting with unilateral nystagmus.

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

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March 2018
6 Reads

[Vitreous hemorrhage, persistent fetal vasculature and Incontinentia Pigmenti].

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.

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December 2017
6 Reads

NEMO Links Nuclear Factor-κB to Human Diseases.

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

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December 2017
13 Reads

Postzygotic mosaicism and incontinentia pigmenti in male patients: molecular diagnosis yield.

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.

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April 2018
3 Reads

Newborn With a Rash.

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

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

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November 2017
5 Reads

Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia.

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

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November 2017
13 Reads

Bullous lesions in a neonate.

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

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

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August 2017
15 Reads

Incontinentia pigmenti, an x-linked dominant disorder, in a 2-year-old boy with Klinefelter syndrome.

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

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May 2018
9 Reads

Incontinentia pigmenti in a child with suspected retinoblastoma.

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

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September 2017
23 Reads

Incontinentia Pigmenti: A Summary Review of This Rare Ectodermal Dysplasia With Neurologic Manifestations, Including Treatment Protocols.

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

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June 2018
7 Reads

Visual Diagnosis: Vesicular Rash in a Neonate.

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

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

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September 2017
3 Reads

Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males.

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

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September 2017
17 Reads

Incontinentia pigmenti in a male (XY) infant with long-term follow up over 8 years.

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

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January 2018
9 Reads

Incontinentia Pigmenti: A Case Report of a Complex Systemic Disease.

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

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July 2017
5 Reads

Dental treatment considerations for a pediatric patient with incontinentia pigmenti (Bloch-Sulzberger syndrome).

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

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July 2017
10 Reads

Severe neuroimaging anomalies are usually associated with random X inactivation in leucocytes circulating DNA in X-linked dominant Incontinentia Pigmenti.

Mol Genet Metab 2017 11 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

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November 2017
16 Reads

Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness.

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

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August 2017
16 Reads

A 7-year-old female child of incontinentia pigmenti presenting with vitreous hemorrhage.

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

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June 2017
8 Reads

Gene therapy decreases seizures in a model of Incontinentia pigmenti.

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

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July 2017
25 Reads

Pulmonary hypertension and vasculopathy in incontinentia pigmenti: a case report.

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

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May 2017
21 Reads

What's new with common genetic skin disorders?

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

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August 2017
11 Reads

Keratoacanthoma-Like Growths of Incontinentia Pigmenti Successfully Treated with Intralesional Methotrexate.

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

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July 2017
9 Reads

Multiple Squamous Cell Carcinomas Arising in Hyperpigmented Patches: A Newly Recognized Feature of Incontinentia Pigmenti?

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.

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December 2017
9 Reads