Full Text Journal Articles about
Neurologic Manifestations of Incontinentia Pigmenti

Advertisement

Find full text journal articles






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

Ruggero Moro, Antonella Fabiano, Piergiacomo Calzavara-Pinton, Jacopo Cardinale, Giovanni Palumbo, Silvia Giliani, Gaetana Lanzi, Francesca Antonelli, Micaela De Simone, Paola Martelli, Elisa Fazzi, Lorenzo Pinelli, Giulio Gualdi,

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. ... Read more >>

Dermatol Ther (Heidelb) (Dermatology and therapy)
[2020, 10(1):213-220]

Cited: 0 times

View full text PDF listing >>



Incontinentia pigmenti burden scale: designing a family burden questionnaire.

Charles Taieb, Smail Hadj-Rabia, Jacques Monnet, Mohammed Bennani, Christine Bodemer, ,

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 ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2019, 14(1):271]

Cited: 0 times

View full text PDF listing >>



Advertisement

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

Sergio Ocaña Jaramillo, Javier Del Boz, Ángel Vera Casaño,

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 ... Read more >>

An Pediatr (Barc) (Anales de pediatria (Barcelona, Spain : 2003))
[2020, 92(1):3-12]

Cited: 0 times

View full text PDF listing >>



De novo mutation of emopamil binding protein (EBP) gene in a girl with Conradi-Hünermann-Happle syndrome.

Ana Soler-Cardona, Oliver Brandau, Franco Laccone, Adrian Tanew, Sonja Radakovic,

Conradi-Hünermann-Happle syndrome is a rare X-linked dominant syndrome affecting the skin, skeletal system, and eyes. Here, we report on a female patient with a de novo heterozygous missense mutation c.301C>T (p.Trp101Arg) of the EMP (emopamil binding protein) gene. ... Read more >>

Clin Case Rep (Clinical case reports)
[2019, 7(8):1522-1525]

Cited: 0 times

View full text PDF listing >>



Fatal Hypogammaglobulinemia 3 Years after Rituximab in a Patient with Immune Thrombocytopenia: An Underlying Genetic Predisposition?

Jean-François Viallard, Marie Parrens, Frédéric Rieux-Laucat,

We report the case of a young woman who developed, 3 years after stopping Rituximab (RTX) prescribed for immune thrombocytopenia (ITP), a severe immunodeficiency leading to fatal pulmonary Epstein-Barr virus-positive diffuse large B-cell lymphoma. Genetic analysis led us to identify four missense mutations known to affect immune-deficiency-associated genes (FAS-ligand (FASL) ... Read more >>

Case Reports Immunol (Case reports in immunology)
[2019, 2019:2543038]

Cited: 0 times

View full text PDF listing >>



Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Pierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh, Bénédicte Demeer, Judith St-Onge, Yannis Duffourd, Paul Kuentz, Jean-Benoît Courcet, Virginie Carmignac, Philippine Garret, Didier Bessis, Odile Boute, Alain Bron, Guillaume Captier, Esther Carmi, Bernard Devauchelle, David Geneviève, Catherine Gondry-Jouet, Laurent Guibaud, Arnaud Lafon, Michèle Mathieu-Dramard, Julien Thevenon, William B Dobyns, Geneviève Bernard, Satyamaanasa Polubothu, Francesca Faravelli, Veronica A Kinsler, Christel Thauvin, Laurence Faivre, M Elizabeth Ross, Jean-Baptiste Rivière,

Hypopigmentation along Blaschko's lines is a hallmark of a poorly defined group of mosaic syndromes whose genetic causes are unknown. Here we show that postzygotic inactivating mutations of RHOA cause a neuroectodermal syndrome combining linear hypopigmentation, alopecia, apparently asymptomatic leukoencephalopathy, and facial, ocular, dental and acral anomalies. Our findings pave ... Read more >>

Nat. Genet. (Nature genetics)
[2019, 51(10):1438-1441]

Cited: 0 times

View full text PDF listing >>



UBE2A-related X-linked intellectual disability.

Roger E Stevenson, Albert E Chudley, Anand K Srivastava, Jayson Rodriguez, Michael J Friez, Charles E Schwartz,

UBE2A-related X-linked intellectual disability is characterized by a distinctive facial phenotype (dense eyebrows and eyelashes, synophrys, hypertelorism, upslanted palpebral fissures, wide mouth, and thin lips), generalized hirsutism, hypoplastic genitalia, short stature, hypotonia, seizures, and severe intellectual disability. Five affected males in two families are described here and compared with the ... Read more >>

Clin. Dysmorphol. (Clinical dysmorphology)
[2019, 28(1):1-6]

Cited: 0 times

View full text PDF listing >>



Incontinentia Pigmenti Misdiagnosed as Neonatal Herpes Simplex Virus Infection.

Fahimeh Abdollahimajd, Minoo Fallahi, Mohammad Kazemian, Yalda Nilipour, Mitra Radfar, Sedigheh Tahereh Tehranchi,

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, ... Read more >>

Case Rep Pediatr (Case reports in pediatrics)
[2018, 2018:1376910]

Cited: 0 times

View full text PDF listing >>



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

Nehla Ghedira, Arnaud Lagarde, Karim Ben Ameur, Sahar Elouej, Rania Sakka, Emna Kerkeni, Fatma-Zohra Chioukh, Sylviane Olschwang, Jean-Pierre Desvignes, Sonia Abdelhak, Valerie Delague, Nicolas Lévy, Kamel Monastiri, Annachiara De Sandre-Giovannoli,

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) ... Read more >>

BMC Pediatr (BMC pediatrics)
[2018, 18(1):286]

Cited: 0 times

View full text PDF listing >>



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

Nour Kibbi, Mariam Totonchy, Kathleen C Suozzi, Christine J Ko, Ian D Odell,

JAAD Case Rep (JAAD Case Reports)
[2018, 4(7):737-741]

Cited: 0 times

View full text PDF listing >>



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

Debopam Samanta,

Incontinentia pigmenti (IP) is a rare X-linked multisystem disease caused because of mutation in the IKBKG (inhibitor of kappa-B kinase gamma, previously NEMO) 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 ... Read more >>

J Pediatr Neurosci (Journal of pediatric neurosciences)
[2018, 13(2):270-272]

Cited: 0 times

View full text PDF listing >>



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

Moon Young Seo, Su Jeong You, Soung Hee Kim, Woo Ho Cho, Jong Hee Chae,

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. Following respiratory syncytial virus infection and ... Read more >>

J Epilepsy Res (Journal of epilepsy research)
[2017, 7(2):118-120]

Cited: 0 times

View full text PDF listing >>



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

Urvi Popli, Paul Devakar Yesudian,

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 ... Read more >>

Int J Trichology (International journal of trichology)
[2018, 10(1):24-25]

Cited: 0 times

View full text PDF listing >>



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

Carol Greene-Roethke,

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. It is usually lethal in males, but females survive because of ... Read more >>

J Pediatr Health Care (Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners)
[2017, 31(6):e45-e52]

Cited: 1 time

View full text PDF listing >>



Incontinentia pigmenti in a child with suspected retinoblastoma.

Stephanie J Weiss, Archana Srinivasan, Michael A Klufas, Carol L Shields,

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 ... Read more >>

Int J Retina Vitreous (International journal of retina and vitreous)
[2017, 3:34]

Cited: 0 times

View full text PDF listing >>



Incontinentia Pigmenti

Angela E Scheuerle, Matilde Valeria Ursini,

CLINICAL CHARACTERISTICS:Incontinentia pigmenti (IP) is a disorder that affects the skin, hair, teeth, nails, eyes, and central nervous system; it occurs primarily in females and on occasion in males. Characteristic skin lesions evolve through four stages: I. Blistering (birth to age ~4 months). II. Wart-like rash (for several months). III. ... Read more >>

()
[, :]

Cited: 0 times

View full text PDF listing >>



Possible Correlation between Hypomelanosis of Ito and Wilms' Tumor.

Daniella Bello-Germino, Rasmey Chhin, Thu Tran, Tetyana L Vasylyeva,

Hypomelanosis of Ito is a neurocutaneous disorder characterized by skin manifestations in a characteristic pattern associated with musculoskeletal and central nervous system symptoms. Our patient was diagnosed with Wilms' tumor stage I at age two and was also found to have distinct streaked areas of skin hyper- and hypopigmentation suggestive ... Read more >>

Case Rep Pediatr (Case reports in pediatrics)
[2018, 2018:5938120]

Cited: 0 times

View full text PDF listing >>



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

Serena Gianfaldoni, Georgi Tchernev, Uwe Wollina, Torello Lotti,

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 ... Read more >>

Open Access Maced J Med Sci (Open access Macedonian journal of medical sciences)
[2017, 5(4):501-505]

Cited: 0 times

View full text PDF listing >>



Bar code reader - an algorithmic approach to cutaneous occluding vasculopathies? Part I: small vessel vasculopathies.

Gudrun Ratzinger, Bettina G Zelger, Bernhard W Zelger,

AIMS:The classifications of occluding vasculopathies may present some difficulties. Firstly, classifications may follow different principles, e.g. clinicopathological findings, etiology or pathomechanism. Secondly, authors sometimes do not distinguish between vasculitis and vasculopathy. Thirdly, vasculopathies are often systemic diseases. Organ-specific variations make morphologic findings difficult to compare. Moreover, subtle changes may be ... Read more >>

J Dtsch Dermatol Ges (Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG)
[2019, 17(9):895-904]

Cited: 0 times

View full text PDF listing >>



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

Abduljabbar Alshenqiti, Marwan Nashabat, Hissah AlGhoraibi, Omar Tamimi, Majid Alfadhel,

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 ... Read more >>

Ther Clin Risk Manag (Therapeutics and clinical risk management)
[2017, 13:629-634]

Cited: 2 times

View full text PDF listing >>



ASSESSMENT OF THE RETINAL STRUCTURE IN CHILDREN WITH INCONTINENTIA PIGMENTI.

Shwetha Mangalesh, Xi Chen, Du Tran-Viet, Christian Viehland, Sharon F Freedman, Cynthia A Toth,

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).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 ... Read more >>

Retina (Philadelphia, Pa.) (Retina (Philadelphia, Pa.))
[2017, 37(8):1568-1574]

Cited: 3 times

View full text PDF listing >>



Cerebral Small Vessel Disease: A Review Focusing on Pathophysiology, Biomarkers, and Machine Learning Strategies.

Elisa Cuadrado-Godia, Pratistha Dwivedi, Sanjiv Sharma, Angel Ois Santiago, Jaume Roquer Gonzalez, Mercedes Balcells, John Laird, Monika Turk, Harman S Suri, Andrew Nicolaides, Luca Saba, Narendra N Khanna, Jasjit S Suri,

Cerebral small vessel disease (cSVD) has a crucial role in lacunar stroke and brain hemorrhages and is a leading cause of cognitive decline and functional loss in elderly patients. Based on underlying pathophysiology, cSVD can be subdivided into amyloidal and non-amyloidal subtypes. Genetic factors of cSVD play a pivotal role ... Read more >>

J Stroke (Journal of stroke)
[2018, 20(3):302-320]

Cited: 7 times

View full text PDF listing >>



A clinical primer on intellectual disability.

Dilip R Patel, Maria Demma Cabral, Arlene Ho, Joav Merrick,

Between 1% and 3% of persons in general population are estimated to have some degree of intellectual disability. A diagnosis of intellectual disability is based on clinical history, level of intellectual ability and level of adaptive function. Both, the intellectual and adaptive functioning are measured using individually administered standardized tests. ... Read more >>

Transl Pediatr (Translational pediatrics)
[2020, 9(Suppl 1):S23-S35]

Cited: 0 times

View full text PDF listing >>



Spectrum of gastrointestinal lesions of neurofibromatosis type 1: a pictorial review.

Nada Garrouche, Amel Ben Abdallah, Nadia Arifa, Ibtissem Hasni, Yasser Ben Cheikh, Waad Ben Farhat, Sana Ben Amor, Hela Jemni,

Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders. Gastrointestinal manifestations of NF-1 are seldom thought of in routine clinical practice and might thus be significantly under-recognised. Their heterogeneous spectrum ranges from localised microscopic proliferative lesions to grossly recognizable mass-forming neurofibromas, neuroendocrine and gastrointestinal stromal tumours (GIST). ... Read more >>

Insights Imaging (Insights into imaging)
[2018, 9(5):661-671]

Cited: 2 times

View full text PDF listing >>



Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.

Francesc Rudilla, Clara Franco-Jarava, Mónica Martínez-Gallo, Marina Garcia-Prat, Andrea Martín-Nalda, Jacques Rivière, Aina Aguiló-Cucurull, Laura Mongay, Francisco Vidal, Xavier Solanich, Iñaki Irastorza, Juan Luis Santos-Pérez, Jesús Tercedor Sánchez, Ivon Cuscó, Clara Serra, Noelia Baz-Redón, Mónica Fernández-Cancio, Carmen Carreras, José Manuel Vagace, Vicenç Garcia-Patos, Ricardo Pujol-Borrell, Pere Soler-Palacín, Roger Colobran,

Primary immunodeficiencies (PIDs) refer to a clinically, immunologically, and genetically heterogeneous group of over 350 disorders affecting development or function of the immune system. The increasing use of next-generation sequencing (NGS) technology has greatly facilitated identification of genetic defects in PID patients in daily clinical practice. Several NGS approaches are ... Read more >>

Front Immunol (Frontiers in immunology)
[2019, 10:2325]

Cited: 1 time

View full text PDF listing >>



Advertisement

Disclaimer
2.5186 s