1,171 results match your criteria Incontinentia Pigmenti


Incontinentia pigmenti: multisistemic genodermatosis.

Bol Med Hosp Infant Mex 2020 ;77(3):112-118

Servicio de Dermatología, Instituto Nacional de Pediatría, Ciudad de México, México.

Incontinentia pigmenti is an X-linked genodermatosis generally lethal in males; thus, it presents almost exclusively in females. It is caused by a loss-of-function mutation in the IKBKG (inhibitor of kappa polypeptide gene enhancer in B cells, kinase gamma) gene that prevents the NFкβ (nuclear factor kappa-light-chain-enhancer of activated B cells) protein from migrating to the nucleus to begin the transcription of factors that amplify the immune response and prevent apoptosis. Consequently, mutant cells become vulnerable to apoptosis when exposed to cytokines and, in turn, lead to vaso-occlusion and ischemia of tissues, such as the skin, the central nervous system and the retina. Read More

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http://dx.doi.org/10.24875/BMHIM.19000173DOI Listing
January 2020

Dermatoscopic features of incontinentia pigmenti.

Indian J Dermatol Venereol Leprol 2020 Jul-Aug;86(4):422-424

Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

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http://dx.doi.org/10.4103/ijdvl.IJDVL_77_19DOI Listing
May 2020
1.325 Impact Factor

Linear crusted papules in an infant.

JAAD Case Rep 2020 May 30;6(5):441-443. Epub 2020 Apr 30.

Apex Dermatology and Skin Surgery Center, Mayfield Heights, Ohio.

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http://dx.doi.org/10.1016/j.jdcr.2020.02.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200436PMC

Epileptic Spasms in an Infant with Incontinentia Pigmenti: Report of a Rare Case with Brief Review of the Literature.

J Neurosci Rural Pract 2020 Apr 4;11(2):325-328. Epub 2020 Apr 4.

Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.

Incontinentia pigmenti (IP) or Bloch-Sulzberger's disease is a rare neurocutaneous syndrome with dermatological, neurologic, and systemic manifestations including retinal, dental and hair abnormalities. It follows X-linked dominant inheritance and predominantly affects female children. The characteristic evolution of skin lesions in four stages is a hallmark diagnostic feature of the disease. Read More

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http://dx.doi.org/10.1055/s-0040-1709246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7195961PMC

A Rare Association of Retinoblastoma With Incontinentia Pigmenti.

J Pediatr Hematol Oncol 2020 Jul;42(5):372-374

Department of Paediatric Oncology, Tata Memorial Hospital, Mumbai, India.

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http://dx.doi.org/10.1097/MPH.0000000000001797DOI Listing

Beta HPV Type 15 Can Interfere With NF-κB Activity and Apoptosis in Human Keratinocytes.

Front Cell Infect Microbiol 2020 18;10:111. Epub 2020 Mar 18.

HPV-Unit, IRCCS Regina Elena National Cancer Institute, Rome, Italy.

E7 protein from cutaneous as well as mucosal HPV types can alter NF-κB activity. Conflicting literature data show a HPV-induced up- or down-regulation of the NF-κB pathway in different cell lines. In a previous study we detected the expression of E7 gene of HPV15 in a subungual tumor of a patient affected by incontinentia pigmenti (IP). Read More

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http://dx.doi.org/10.3389/fcimb.2020.00111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7093591PMC

Cerebral angiogenesis ameliorates pathological disorders in -deficient mice with small-vessel disease.

J Cereb Blood Flow Metab 2020 Mar 9:271678X20910522. Epub 2020 Mar 9.

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

Cerebral small-vessel diseases (SVDs) often follow a progressive course. Little is known about the function of angiogenesis, which potentially induces regression of SVDs. Here, we investigated angiogenesis in a mouse model of incontinentia pigmenti (IP), a genetic disease comprising features of SVD. Read More

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http://dx.doi.org/10.1177/0271678X20910522DOI Listing

Incontinentia pigmenti: Generation of an IKBKG deficient human iPSC line (KICRi002-A-1) on a 46,XY background using CRISPR/Cas9.

Stem Cell Res 2020 04 20;44:101739. Epub 2020 Feb 20.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, 751 08 Uppsala, Sweden. Electronic address:

Incontinentia pigmenti (IP) is an X-linked dominant neuroectodermal dysplasia caused by loss-of-function mutations in the IKBKG gene. Using CRISPR/Cas9 technology, we generated an IKBKG knock-out iPSC line (KICRi002-A-1) on a 46,XY background. The iPSC line showed a normal karyotype, expressed pluripotency markers and exhibited capability to differentiate into the three germ layers in vitro. Read More

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http://dx.doi.org/10.1016/j.scr.2020.101739DOI Listing

Hypomorphic mutation of IKBKG in a male patient with incontinentia pigmenti.

J Dermatol 2020 Apr 26;47(4):e113-e114. Epub 2020 Jan 26.

Department of Dermatology, Tokushima University Graduate School of Medical Science, Tokushima, Japan.

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http://dx.doi.org/10.1111/1346-8138.15242DOI Listing

Incontinentia pigmenti in boys: Causes and consequences.

Ann Dermatol Venereol 2020 Mar 22;147(3):188-193. Epub 2020 Jan 22.

Dermatology department, hôpital l'Archet 2, Nice university hospital, 06200 Nice, France.

Introduction: Incontinentia pigmenti (IP) is an X-linked genodermatosis caused by mutation of the NEMO/IKBKG gene. While lethal in male foetuses, heterozygous females survive because of X-inactivation mosaicism. Herein we discuss 9 male patients with IP. Read More

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http://dx.doi.org/10.1016/j.annder.2019.07.007DOI Listing

Anaesthesia and orphan disease: A child with incontinentia pigmenti.

Eur J Anaesthesiol 2020 Feb;37(2):141-143

From the Department of Anaesthesiology and Reanimation, University of Health Sciences, Antalya Training and Research Hospital, Antalya, Turkey (TS, ASK, HFM).

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http://dx.doi.org/10.1097/EJA.0000000000001136DOI Listing
February 2020

Immunohistochemical Analysis of a Vitreous Membrane Removed from a Patient with Incontinentia Pigmenti-Related Retinal Detachment.

Vision (Basel) 2020 Jan 2;4(1). Epub 2020 Jan 2.

Department of Physiology, Faculty of Medicine, University of Szeged, Dóm tér 10, 6720 Szeged, Hungary.

This is a case history of a 23-year-old woman suffering from incontinentia pigmenti (IP). The patient's vision in the left eye started to deteriorate due to cataract progression at the age of 22, and by the age of 23, it dropped from 0.9 to 0. Read More

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http://dx.doi.org/10.3390/vision4010005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7158695PMC
January 2020

The color of skin: gray diseases of the skin, nails, and mucosa.

Clin Dermatol 2019 Sep - Oct;37(5):507-515. Epub 2019 Jul 31.

Department of Dermatology, Andrology and STIs, Ain Shams University Hospital, Cairo, Egypt. Electronic address:

Gray diseases are a group of skin disorders characterized mainly by gray discoloration with or without involving the mucous membranes and nails. These diseases may be hereditary or acquired. Some of the better-known hereditary entities are dermal melanocytosis, incontinentia pigmenti, hypomelanosis of Ito, hemochromatosis, ochronosis, and silvery hair syndrome. Read More

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http://dx.doi.org/10.1016/j.clindermatol.2019.07.011DOI Listing

An unusual presentation of incontinentia pigmenti.

J Dtsch Dermatol Ges 2020 Feb 25;18(2):133-135. Epub 2019 Dec 25.

Department of Dermatology, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1111/ddg.13998DOI Listing
February 2020

Incontinentia pigmenti burden scale: designing a family burden questionnaire.

Orphanet J Rare Dis 2019 11 26;14(1):271. Epub 2019 Nov 26.

French Rare Diseases Healthcare Network Department of Dermatology, Necker Enfants Malades Hospital Paris, APHP, Paris, France.

Background: Incontentia pigmenti (IP) is a rare multisystem disorder of ectodermal origin comprising skin, dental, ocular and central nervous system features. Symptomatic treatments are adapted to each family according to the patient's disability. Due to its rarity, the family IP burden in its broadest sense (psychological, social, economic and physical) has not yet been evaluated. Read More

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http://dx.doi.org/10.1186/s13023-019-1234-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6880510PMC
November 2019

Incontinentia Pigmenti Associated with Aplasia Cutis Congenita in a Newborn Male with Klinefelter Syndrome: Is the Severity of Neurological Involvement Linked to Skin Manifestations?

Dermatol Ther (Heidelb) 2020 Feb 6;10(1):213-220. Epub 2019 Nov 6.

Dermatologic Clinic, Department of Medicine and Aging Science, Università degli Studi "G. d'Annunzio" Chieti-Pescara, Chieti, Italy.

We report a rare case of a newborn male affected by incontinentia pigmenti, Klinefelter syndrome, and aplasia cutis congenita, who developed severe cutaneous, neurological, and ophthalmological manifestations. Genetic analysis showed the presence of the common mutation of NEMO (exon 4-10 deletion), Klinefelter syndrome karyotype (47 XXY), and random X inactivation. This is in accordance with the severity of involvement of the affected tissues (skin, central nervous system, and retina). Read More

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http://dx.doi.org/10.1007/s13555-019-00336-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6994639PMC
February 2020
1 Read

Not what it seems.

Arch Dis Child Educ Pract Ed 2019 Oct 30. Epub 2019 Oct 30.

Paediatrics, Southern Health and Social Care Trust, Portadown, UK

A 5-month-old female patient presented to the general practitioner with a 2-week history of an unexplained linear lesion on her left lower limb extending from the medial part of her thigh to the medial aspect of her leg and onto the sole of her foot (figures 1 and 2). It was hyperpigmented, papular and non-blanching. There was no history of trauma, itching, pain, infective symptoms or social concerns. Read More

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http://dx.doi.org/10.1136/archdischild-2019-318086DOI Listing
October 2019
1 Read

Progressive skin rashes of incontinentia pigmenti during infancy.

Pediatr Int 2019 Oct;61(10):1065-1066

Department of Pediatrics, Asahi General Hospital, Chiba, Japan.

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http://dx.doi.org/10.1111/ped.13964DOI Listing
October 2019

Necrotizing enterocolitis after intravitreal bevacizumab in an infant with Incontinentia Pigmenti - a case report.

BMC Pediatr 2019 10 15;19(1):353. Epub 2019 Oct 15.

Children's Hospital, University of Würzburg, Würzburg, Germany.

Background: Incontinentia Pigmenti is a rare disease affecting multiple organs. Fifty of patients show affection of the eye with retinopathy and possible amaurosis being the worst outcome. Treatment has commonly been panretinal laser coagulation but intravitreal application of bevacizumab as VEGF-inhibitor has shown to effectively suppress retinal neovascularization. Read More

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http://dx.doi.org/10.1186/s12887-019-1732-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6792241PMC
October 2019

A Young Woman With Multiple Painful Subungual Nodules: Answer.

Am J Dermatopathol 2019 Oct;41(10):777

Department of Dermatology, Hospital of the University of Pennsylvania, Philadelphia, PA.

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http://dx.doi.org/10.1097/DAD.0000000000001206DOI Listing
October 2019

A successful treatment of tadalafil in incontinentia pigmenti with pulmonary hypertension.

Eur J Med Genet 2020 Mar 10;63(3):103764. Epub 2019 Sep 10.

Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan.

We describe a female infant with incontinentia pigmenti complicated by severe pulmonary arterial hypertension that was markedly improved by tadalafil administration. The infant was referred to our institution because of neonatal seizures and generalized skin rash at the age of 1 day. She was diagnosed with incontinentia pigmenti on skin biopsy findings. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.103764DOI Listing
March 2020
4 Reads

A Female Infant With Linear Erythema and Papulovesicles at Birth and 5-Year Follow-up: Answer.

Am J Dermatopathol 2019 Sep;41(9):684-685

Department of Dermatopathology, Shanghai Skin Disease Hospital affiliated to Tongji University, Shanghai, China.

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http://dx.doi.org/10.1097/DAD.0000000000001157DOI Listing
September 2019
1 Read
1.426 Impact Factor

Asymptomatic Rash in a Male Infant with Incontinentia Pigmenti.

J Pediatr 2019 12 2;215:278-278.e1. Epub 2019 Aug 2.

Division of Dermatology, Loyola University Medical Center, Maywood, Illinois.

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http://dx.doi.org/10.1016/j.jpeds.2019.07.005DOI Listing
December 2019
1 Read

Clinical utility gene card: for incontinentia pigmenti.

Eur J Hum Genet 2019 12 9;27(12):1894-1900. Epub 2019 Jul 9.

Institute of Genetics and Biophysics "Adriano Buzzati-Traverso", IGB-CNR, Naples, 80131, Italy.

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http://dx.doi.org/10.1038/s41431-019-0463-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6871521PMC
December 2019
2 Reads

Congenital erosive and vesicular dermatosis in a young girl: a diagnostic dilemma.

Int J Dermatol 2019 Nov 7;58(11):e212-e214. Epub 2019 Jul 7.

Department of Dermatology and Venereology, All India Institute of Medical Sciences, Rishikesh, India.

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http://dx.doi.org/10.1111/ijd.14570DOI Listing
November 2019
1 Read
1.227 Impact Factor

The Incontinentia Pigmenti Genetic Biobank: study design and cohort profile to facilitate research into a rare disease worldwide.

Eur J Hum Genet 2019 10 23;27(10):1509-1518. Epub 2019 Jun 23.

Institute of Genetics and Biophysics "A. Buzzati Traverso" CNR, 80131, Naples, Italy.

Incontinentia pigmenti (IP; OMIM#308300) is a rare genetic disease resulting in neuroectodermal defects, which can lead to disability. At present, there is neither definitive cure available nor are there any sufficiently reliable insights to predict the severity of the disease. We launched the Incontinentia Pigmenti Genetic Biobank (IPGB) project ( http://www. Read More

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http://dx.doi.org/10.1038/s41431-019-0451-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777495PMC
October 2019
8 Reads

Corticosteroid Therapy in Neonatal Incontinentia Pigmenti With Asymptomatic Cerebral Lesions.

Pediatr Neurol 2019 10 18;99:85-87. Epub 2019 Apr 18.

Department of Pediatrics, Fukushima Medical University, Fukushima, Japan.

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.04.003DOI Listing
October 2019
13 Reads

Retinal imaging in incontinentia pigmenti.

Indian J Ophthalmol 2019 06;67(6):944-945

Department of Ophthalmology, Government Medical College and Hospital, Sector 32, Chandigarh, India.

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http://www.ijo.in/text.asp?2019/67/6/944/259040
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http://dx.doi.org/10.4103/ijo.IJO_417_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552610PMC
June 2019
5 Reads
0.927 Impact Factor

Multimodal retinal imaging of a 6-year-old male child with incontinentia pigmenti.

Indian J Ophthalmol 2019 06;67(6):942-943

Retina and Uvea Services, Sadguru Netra Chikitsalaya, Chitrakoot, Madhya Pradesh, India.

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http://dx.doi.org/10.4103/ijo.IJO_192_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552623PMC
June 2019
3 Reads

Retinopathy in incontinentia pigmenti.

Indian J Ophthalmol 2019 06;67(6):940-942

Shri Bhagwan Mahavir Vitreoretinal Services, Sankara Nethralaya, Chennai, Tamil Nadu, India.

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http://dx.doi.org/10.4103/ijo.IJO_760_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552595PMC
June 2019
4 Reads

Ultra-widefield fundus fluorescein angiography in pediatric retinal vascular diseases.

Indian J Ophthalmol 2019 06;67(6):788-794

Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.

Purpose: To describe the utility of RetCam ultra-wide-field fundus fluorescein angiography in pediatric retinal vascular diseases.

Methods: A retrospective chart review was carried out in 43 eyes of 22 pediatric patients who were diagnosed or suspected to have a retinal vascular disease. Fluorescein angiography was carried out using the 130 degree lens of RetCam 3. Read More

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http://dx.doi.org/10.4103/ijo.IJO_1688_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552605PMC
June 2019
12 Reads
0.927 Impact Factor

Incontinentia pigmenti in adults.

Am J Med Genet A 2019 08 22;179(8):1415-1419. Epub 2019 May 22.

Department of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, Texas.

Incontinentia Pigmenti (IP; MIM 308300) is an X-linked dominant genodermatosis caused by pathogenic variant in IKBKG. The phenotype in adults is poorly described compared to that in children. Questionnaire survey of 99 affected women showed an age at diagnosis from newborn to 41 years, with 53 diagnosed by 6 months of age and 30 as adults. Read More

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http://dx.doi.org/10.1002/ajmg.a.61205DOI Listing
August 2019
9 Reads

[Incontinentia pigmenti. A descriptive study of experience in two different hospitals].

An Pediatr (Barc) 2020 Jan 17;92(1):3-12. Epub 2019 May 17.

Departamento de Dermatología, Hospital Materno Infantil, Málaga, España.

Introduction: Incontinentia pigmenti is a rare genodermatosis of inheritance linked to the Xchromosome that affects tissues derived from ectoderm. The aim of the study is to review, as completely as possible, the cases diagnosed in paediatric patients in two hospitals.

Material And Methods: A retrospective cross-sectional study was carried out, using the clinical, analytical, radiological, and genetic data of paediatric patients diagnosed with incontinentia pigmenti from 2004 to 2018. Read More

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http://dx.doi.org/10.1016/j.anpedi.2019.04.004DOI Listing
January 2020
3 Reads

Questionnaire survey on association between preeclampsia and incontinentia pigmenti.

J Obstet Gynaecol Res 2019 Jul 20;45(7):1363-1370. Epub 2019 May 20.

Clinical Laboratory Department, Xuanwu Hospital, Capital Medical University, Beijing, China.

Aim: In this study, a questionnaire survey was conducted to find the relationship between preeclampsia (PE) and incontinentia pigmenti (IP).

Methods: Using a questionnaire survey of 147 women whose children were diagnosed with IP, this study first investigated their clinical manifestations and complications during pregnancy. The manifestations included high blood pressure, proteinuria and edema after 20 weeks of gestation. Read More

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http://dx.doi.org/10.1111/jog.13983DOI Listing
July 2019
19 Reads
0.931 Impact Factor

Trichoscopy of whorled alopecia revealing "pigment incontinence" of incontinentia pigmenti.

Int J Dermatol 2019 Aug 9;58(8):e156-e158. Epub 2019 May 9.

Department of Dermatology, Venereology, and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

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http://dx.doi.org/10.1111/ijd.14481DOI Listing
August 2019
5 Reads
1.227 Impact Factor

[Laser therapy in ocular involvement after diagnosis of incontinentia pigmenti in a child].

Arch Argent Pediatr 2019 06;117(3):e252-e256

Sección de Oftalmología Pediátrica. Hospital Universitario 12 de Octubre, Madrid, España.

Incontinentia pigmenti is a rare neurocutaneous disorder with a frequency of 1 in 40,000 newborn; it is associated with mutations in IKBKG gene in Xq28, inherited as an X-linked dominant trait. Clinical manifestations detected since the newborn period are highly variable, with skin, teeth, eyes, and nervous system manifestations, and each with a characteristic differential diagnosis. We present a pediatric patient diagnosed with incontinentia pigmenti at the first week of life. Read More

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https://www.sap.org.ar/docs/publicaciones/archivosarg/2019/v
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http://dx.doi.org/10.5546/aap.2019.e252DOI Listing
June 2019
10 Reads

[Treatment of retinopathy of incontinentia pigmenti by anti-vascular endothelial growth factor].

Authors:
X Wang J H Liang

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

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http://dx.doi.org/10.3760/cma.j.issn.0412-4081.2019.04.012DOI Listing
April 2019
36 Reads

A novel inhibitor of nuclear factor kappa-B kinase subunit gamma mutation identified in an incontinentia pigmenti patient with syndromic tooth agenesis.

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

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https://linkinghub.elsevier.com/retrieve/pii/S00039969183089
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http://dx.doi.org/10.1016/j.archoralbio.2019.03.013DOI Listing
May 2019
35 Reads

Unraveling incontinentia pigmenti: A comparison of phenotype and genotype variants.

J Am Acad Dermatol 2019 Nov 21;81(5):1142-1149. Epub 2019 Mar 21.

Division of Pediatric Medicine, Section of Dermatology, Hospital for Sick Children, University of Toronto, Toronto, Ontario, 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

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http://dx.doi.org/10.1016/j.jaad.2019.01.093DOI Listing
November 2019
5 Reads

Foveal Neovascularization Detected by Optical Coherence Tomography Angiography in Incontinentia Pigmenti.

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.

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http://dx.doi.org/10.1001/jamaophthalmol.2018.4197DOI Listing
March 2019
5 Reads

A 3-month-old with papules and plaques in a blaschkoid distribution.

Int J Dermatol 2019 Sep 14;58(9):1037-1039. Epub 2019 Mar 14.

Department of Dermatology, Cleveland Clinic Foundation, Cleveland, OH, USA.

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http://dx.doi.org/10.1111/ijd.14425DOI Listing
September 2019
1 Read
1.227 Impact Factor

Multicystic Dysplastic Kidney and Incontinentia Pigmenti: Coexistence of 2 Rare Diseases.

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

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January 2019
10 Reads

Revascularization After Intravitreal Bevacizumab and Laser Therapy of Bilateral Retinal Vascular Occlusions in Incontinentia Pigmenti (Bloch-Sulzberger Syndrome).

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

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http://dx.doi.org/10.3928/23258160-20190129-16DOI Listing
February 2019
12 Reads

Incontinentia Pigmenti.

Actas Dermosifiliogr 2019 May 17;110(4):273-278. 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

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http://dx.doi.org/10.1016/j.ad.2018.10.004DOI Listing
May 2019
7 Reads

Absence of an osteopetrosis phenotype in IKBKG (NEMO) mutation-positive women: A case-control study.

Bone 2019 04 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

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http://dx.doi.org/10.1016/j.bone.2019.01.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6457251PMC
April 2019
12 Reads

Foveal hypoplasia and optical coherence tomographic imaging.

Authors:
Hiroyuki Kondo

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

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http://dx.doi.org/10.4103/tjo.tjo_101_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6302563PMC
January 2019
6 Reads

Nature's Canvas: An Infant With Stripes and Whorls.

Pediatr Neurol 2019 03 23;92:76-77. Epub 2018 Nov 23.

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

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.11.010DOI Listing
March 2019
7 Reads
1.504 Impact Factor