45 results match your criteria Haberland Syndrome


Case Report: Neutralization of Autoantibodies Targeting G-Protein-Coupled Receptors Improves Capillary Impairment and Fatigue Symptoms After COVID-19 Infection.

Front Med (Lausanne) 2021 18;8:754667. Epub 2021 Nov 18.

Berlin Cures GmbH, Berlin, Germany.

Clinical features of Coronavirus disease 2019 (COVID-19) are caused by severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2). Acute infection management is a substantial healthcare issue, and the development of long-Covid syndrome (LCS) is extremely challenging for patients and physicians. It is associated with a variety of characteristics as impaired capillary microcirculation, chronic fatigue syndrome (CFS), proinflammatory cytokines, and functional autoantibodies targeting G-protein-coupled receptors (GPCR-AAbs). Read More

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November 2021

Expending the Phenotypic Spectrum of Encephalocraniocutaneous Lipomatosis: About a Prenatal Case With Complete Autopsy.

Pediatr Dev Pathol 2022 Mar-Apr;25(2):180-185. Epub 2021 Sep 22.

Institute of Pathology, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Université Claude Bernard Lyon 1, Lyon, France.

Encephalocraniocutaneous lipomatosis (ECCL) or Haberland syndrome (MIM #613001) is a rare congenital neurocutaneous disorder. It is characterized by unilateral ocular, cutaneous and central nervous system anomalies. Key clinical features include hairless fatty tissue nevus of the scalp, choristoma of the eye and intraspinal and intracerebral lipomas. Read More

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Aptamer BC 007's Affinity to Specific and Less-Specific Anti-SARS-CoV-2 Neutralizing Antibodies.

Viruses 2021 05 18;13(5). Epub 2021 May 18.

Department of Chemistry, NMR Facility, Humboldt University of Berlin, Brook-Taylor-Straße 2, 12489 Berlin, Germany.

COVID-19 is a pandemic respiratory disease that is caused by the highly infectious severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Anti-SARS-CoV-2 antibodies are essential weapons that a patient with COVID-19 has to combat the disease. When now repurposing a drug, namely an aptamer that interacts with SARS-CoV-2 proteins for COVID-19 treatment (BC 007), which is, however, a neutralizer of pathogenic autoantibodies in its original indication, the possibility of also binding and neutralizing anti-SARS-CoV-2 antibodies must be considered. Read More

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Characteristics of Patients with Type 1 Diabetes and Additional Autoimmune Disease in the DPV Registry.

J Clin Endocrinol Metab 2021 08;106(9):e3381-e3389

Institute of Epidemiology and Medical Biometry, Central Institute for Biomedical Technology, Ulm University, Ulm, Germany.

Context: Autoimmune diseases affect ~8% of the population. Type 1 diabetes mellitus (T1DM) is linked to other autoimmune diseases (AIDs), such as autoimmune thyroid disease or Addison's disease (AD), that may impact diabetes therapy and outcome.

Objective: To analyze demographic and clinical characteristics of other AIDs in T1DM from a large standardized registry, the Prospective Diabetes Follow-up Registry (DPV). Read More

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Case Report: A Case of Glioblastoma in a Patient With Haberland Syndrome.

Front Pediatr 2021 8;9:648717. Epub 2021 Mar 8.

Department of Molecular Medicine and Development, University of Siena, Siena, Italy.

Haberland syndrome or encephalocraniocutaneous lipomatosis is a rare ectomesodermal dysgenesis defined by the triad including ocular, skin, and central nervous system involvement, which is commonly unilateral. This disorder is attributed to a post-zygotic mutation responsible for a neural tube and neural crest dysgenesis. We report the case of a 15-year-old female with Haberland syndrome with pharmacoresistant epilepsy who developed a World Health Organization-grade IV glioblastoma. Read More

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Encephalocraniocutaneous lipomatosıs (Haberland syndrome) in a newborn baby: a case report with review of literature.

Childs Nerv Syst 2021 12 1;37(12):3951-3955. Epub 2021 Mar 1.

Medical Faculty, Department of Pediatrics, Division of Neonatology, Erciyes University, Kayseri, Turkey.

Encephalocraniocutaneous lipomatosis (ECCL) is an extremely uncommon, neurocutaneous disease, with a classical triad of ocular, skin lesions and central nervous system anomalies. We here report a case of ECCL in a newborn baby, characterized with naevus psiloliparus, choristoma, lipodermoids, cervical subcutaneous soft tissue mass, lowset ear, porencephalic cyst, polymicrogyria, arachnoid cyst, leptomeningeal angiomatosis and spinal lipomas. We here stress on the importance of early diagnosis to prevent misdiagnosis and employ a multidisciplinary approach in the management of these patients. Read More

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December 2021

Encephalocraniocutaneous Lipomatosis Associated with Orbital Cyst: A Variant or New Entity?

Turk J Ophthalmol 2021 02;51(1):66-69

University of Maiduguri Teaching Hospital, Department of Pediatrics, Maiduguri, Nigeria.

Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland or Fishman syndrome, is an extremely rare congenital neurocutaneous disorder that characteristically involves ectomesodermal tissues such as the central nervous system, eyes, and skin. The etiology of the disease remains unknown. Here we present a rare case of ECCL associated with bilateral eye involvement and orbital cyst from Sub-Saharan Africa. Read More

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February 2021

Fibrous Meningioma in a Patient with Encephalocraniocutaneous Lipomatosis: A Rare Case with Unique Features.

Int Med Case Rep J 2020 17;13:347-351. Epub 2020 Aug 17.

Department of Neurology, King Abdullah University Hospital (KAUH), Jordan University of Science and Technology (JUST), Irbid, Jordan.

Encephalocraniocutaneous lipomatosis "ECCL" is a rare, sporadic neurocutaneous disorder that results from a lethal autosomal mutation surviving by somatic mosaicism. It is characterized by unilateral involvement of skin, eyes and central nervous system in addition to a propensity for mesenchymal tumors. A 30-year-old male with previously controlled epilepsy presented with recurrent seizures. Read More

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Haberland syndrome with bilateral ocular involvement.

Arch Soc Esp Oftalmol (Engl Ed) 2021 Jan 27;96(1):45-47. Epub 2020 Aug 27.

Servicio de Oftalmología, Hospital Regional Universitario de Málaga, Málaga, España.

Haberland syndrome or encephalocutaneous lipomatosis is a very uncommon syndrome that is characterised by changes in the skin, eye, and central nervous system. It was first described in 1970 by Haberland and Perou, with about 60 cases having been reported since then. A case is reported of a 14-week-old male diagnosed with Haberland syndrome with bilateral ocular involvement in the form of palpebral coloboma and choristomas. Read More

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January 2021

Anaesthetic management of a case of Haberland's syndrome (encephalocraniocutaneous lipomatosis).

Indian J Anaesth 2019 Jul;63(7):587-589

Department of Neurosurgery, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.

While the Haberland syndrome was first reported in 1970, the anaesthetic management of this rare cohort of patients has not been described. With only 54 such cases reported, describing primarily the unilateral cutaneous, ocular, and neurologic malformations associated with this syndrome without focussing on the anaesthetic management. We describe the case of a 7 year old case of Harberland syndrome with special focus on the difficulties faced by us in mask ventilation, as well as intubation and the need for elective ventilation and planned extubation. Read More

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F-Fludeoxyglucose Positron-emission Tomography/Computed Tomography in Encephalocraniocutaneous Lipomatosis/Haberland Syndrome.

Indian J Nucl Med 2019 Apr-Jun;34(2):160-161

Department of Nuclear Medicine, All India Institute of Medical Sciences, New Delhi, India.

Encephalocraniocutaneous lipomatosis (ECCL) is a rare disorder and its clinical presentation constitutes a classic triad of the skin, ocular, and central nervous system involvement. We discuss the F-fludeoxyglucose positron-emission tomography/computed tomography findings of an 11-year-old boy with ECCL and drug refractory epilepsy. Read More

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Pseudodidymosis: nevus psiloliparus with aplasia cutis congenita, an initial manifestation of Haberland syndrome.

Int J Dermatol 2018 Dec 20;57(12):e160-e162. Epub 2018 Sep 20.

Department of Dermatology & Venereology, Government Medical College Thrissur, Thrissur, India.

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December 2018

Lipomatosis encefalocraneocutánea: reporte de caso.

Gac Med Mex 2017;153(7):915-918

Servicio de Neurología Pediátrica; Unidad Médica de Alta Especialidad Hospital de Pediatría Dr. Silvestre Freunk Freund, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Ciudad de México, México.

The encephalocraniocutaneous lipomatosis (ECCL), also known as Fishman or Haberland syndrome, is a rare neurocutaneous syndrome of unknown etiology. Clinically characterized by skin, eye and central nervous system lesions. We present the case of a 7-year-old female who presents to the outpatient clinic of Pediatric Neurology because of the presence of seizures detecting clinical and neuroimaging manifestations compatible with ECCL. Read More

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January 2019

Encephalocraniocutaneous Lipomatosis: Haberland Syndrome.

Am J Case Rep 2017 Dec 1;18:1271-1275. Epub 2017 Dec 1.

Department of Neurology, Yeditepe University School of Medicine, Istanbul, Turkey.

BACKGROUND Encephalocraniocutaneous lipomatosis (ECCL) was first announced as a new type of ectomesodermal dysgenesis in 1970 by Haberland and Perou. ECCL was first described in 1970, and approximately 60 cases have been reported since then. The classic triad of ECCL are skin, ocular, and central nervous system involvement, including conditions such as unilateral porencephalic cyst, ipsilateral lipomatous hamartoma of the scalp-eyelids-eye globe, cortical atrophy, cranial asymmetry, developmental delay, seizures, mental retardation, and spasticity of the contralateral limbs. Read More

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December 2017

Polycystic Ovary Syndrome (PCOS) in Juvenile and Adult Type 1 Diabetes in a German/Austrian Cohort.

Exp Clin Endocrinol Diabetes 2017 Nov 19;125(10):661-668. Epub 2017 Sep 19.

Institute of Epidemiology and Medical Biometry, ZIBMT, University of Ulm, Ulm, Germany.

While an association between PCOS and type 2 diabetes is well established, to date there have been few data on clinical care of type 1 diabetes (T1D) patients with PCOS. The aim of our study was to characterize T1D patients with the comorbidity of PCOS within the DPV cohort with regard to diabetes phenotype, therapy and metabolic control. Clinical data from the prospective German/Austrian DPV cohort on patients with T1D and documented PCOS (n=76) were compared to female T1D controls (n=32,566) in reproductive age. Read More

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November 2017

Haberland Syndrome Associated With Calvarial Exostosis.

Ophthalmic Plast Reconstr Surg 2018 Jul/Aug;34(4):e141

Department of Radiology, Sankara Nethralaya, Medical Research Foundation, and VRR Scan Centre, Chennai, India.

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Encephalocraniocutaneous lipomatosis: A case report with review of literature.

Neuroradiol J 2017 Dec 14;30(6):578-582. Epub 2017 Jul 14.

1 Department of Radiodiagnosis, Jawaharlal Nehru Medical College, Aligarh Muslim University, India.

Encephalocraniocutaneous lipomatosis (ECCL) or Haberland syndrome is an uncommon sporadic neurocutaneous syndrome of unknown origin. The rarity and common ignorance of the condition often makes diagnosis difficult. The hallmark of this syndrome is the triad of skin, ocular and central nervous system (CNS) involvement and includes a long list of combination of conditions. Read More

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December 2017

Encephalocraniocutaneous lipomatosis (Haberland syndrome): A rare case report.

Indian Dermatol Online J 2016 Nov-Dec;7(6):523-525

Department of Dermatology, B.J. Medical College, Civil Hospital, Ahmedabad, Gujarat, India.

Haberland syndrome or Fishman syndrome also known as encephalocraniocutaneous lipomatosis (ECCL) is a rare, congenital neurocutaneous disorder. It is characterized by unilateral involvement of skin, eyes and central nervous system. We report the case of a 28-year-old woman who presented with soft lipomatous swelling over right temporal area with nonscarring alopecia of part of frontal and parietal region. Read More

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December 2016

Haberland syndrome: Clinical and neuroimaging findings leading to diagnosis.

Neurologia (Engl Ed) 2018 Oct 22;33(8):552-554. Epub 2016 Jul 22.

Servicio de Radiodiagnóstico, Hospital Universitario San Cecilio, Granada, España.

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October 2018

Encephalocraniocutaneous lipomatosis (Haberland syndrome): A mild case with bilateral cutaneous and ocular involvement.

JAAD Case Rep 2016 Mar 15;2(2):150-2. Epub 2016 Apr 15.

Department of Pediatrics, San Antonio Military Medical Center, San Antonio, Texas.

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An Egyptian boy with Haberland syndrome: Case report with observations on the histopathology.

JAAD Case Rep 2015 Nov 28;1(6):384-8. Epub 2015 Oct 28.

Department of Neurology, Faculty of Medicine, Zagazig University, Sharqia, Egypt.

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November 2015

Low prevalence of patients with mitochondrial disease in the German/Austrian DPV diabetes registry.

Eur J Pediatr 2016 May 15;175(5):613-22. Epub 2015 Dec 15.

Institute of Epidemiology and Medical Biometry, ZIBMT, University of Ulm, German Center for Diabetes Research (DZD), 89081, Ulm, Germany.

Unlabelled: The aim of this study was to characterize the phenotype and treatment of young patients (manifestation <30 years) with diabetes of mitochondrial origin (DMO), based on the German/Austrian DPV (Diabetes Patienten Verlaufsdokumentation) registry. Only 13 (0.02 %) of all patients with diabetes in this cohort were identified with DMO, mainly due to the Kearns-Sayre (n = 5), Pearson (n = 3), or mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome (n = 2). Read More

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Osteonecrosis of the Jaw in Association With Chemotherapy in the Setting of Cutaneous T-Cell Lymphoma.

J Oral Maxillofac Surg 2016 Feb 3;74(2):292-301. Epub 2015 Aug 3.

Residency Program Director, Division of Oral and Maxillofacial Surgery, Yale-New Haven Hospital, New Haven, CT.

T-cell lymphomas (TCLs) account for approximately 15 to 20% of all non-Hodgkin lymphomas in the United States. The most common form of TCL is cutaneous TCL (CTCL), with Sézary syndrome and mycosis fungoides being the most prevalent subtypes. Sézary syndrome is the more aggressive form and often is referred to as a late-stage variant of mycosis fungoides. Read More

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February 2016

Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: report of additional three cases.

Childs Nerv Syst 2016 Mar 1;32(3):559-62. Epub 2015 Aug 1.

Department of Pediatric Neurology, Eskisehir Osmangazi University Hospital, Meselik, Eskisehir, Turkey.

Purpose: Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital neurocutaneous disorder. It was described by Haberland in 1970 and is also called Haberland syndrome. It is characterized by unilateral skin lesions such as lipomas, connective tissue nevi, and alopecia with ipsilateral ophthalmological and cerebral malformations with or without psychomotor and mental retardation and early-onset seizure. Read More

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Encephalocraniocutaneous Lipomatosis: A Rare Association With Tethered Spinal Cord Syndrome With Review of Literature.

Child Neurol Open 2015 Jan-Mar;2(1):2329048X14553297. Epub 2015 Feb 13.

Department of Pediatrics, Makassed General Hospital, Beirut, Lebanon.

Encephalocraniocutaneous lipomatosis or Haberland syndrome is a rare, congenital neurocutaneous syndrome. It is characterized by unilateral lipomatous hamartomata of the scalp, eyelid, and outer globe of the eye and ipsilateral neurologic malformations. We describe the first case from Lebanon, an infant with classical encephalocraniocutaneous lipomatosis characterized by nevus psiloliparus, unilateral right facial and frontal-temporal subcutaneous lipomas, alopecia, ocular coloboma, aniridia and eyelid nodular tags, ventriculomegaly with intracranial and intraspinal lipomas, and tethered spinal cord. Read More

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February 2015

Delleman syndrome or Haberland syndrome?

Indian J Dermatol Venereol Leprol 2014 Mar-Apr;80(2):155-6

Department of Ophthalmology, Shyam Shah Medical College and Associated Gandhi Memorial Hospital, Rewa, Madhya Pradesh, India.

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November 2014

Encephalocraniocutaneous lipomatosis with calvarial exostosis - Case report and review of literature.

Indian J Radiol Imaging 2013 Oct;23(4):333-6

Department of Radiodiagnosis, Indira Gandhi Medical College and Hospital, Shimla, Himachal Pradesh, India.

Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland syndrome, is a rare syndrome with unknown etiology. The syndrome is characterized by a triad of unique cutaneous, ocular, and central nervous system (CNS) manifestations. The cutaneous hallmark, nevus psiloliparus (NP), along with overlying alopecia is a constant feature. Read More

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October 2013

Persistent multifocal atrial tachycardia in infant with encephalocraniocutaneous lipomatosis: a case report.

Eur J Pediatr 2014 Dec 14;173(12):1577-80. Epub 2013 Aug 14.

Department of Cardiology, The Children's Memorial Health Institute, Dzieci Polskich 20, 04-730, Warsaw, Poland,

Unlabelled: Encephalocraniocutaneous lipomatosis (ECCL, Haberland syndrome, Fishman syndrome) is a very rare congenital disorder, involving skin, eye, bone and central nervous system malformations. In this paper we present a case of a 2-month-old boy with encephalocraniocutaneous lipomatosis diagnosed on the basis of characteristic clinical manifestations and neuroimaging findings. Neurologically, the child presented only with mild physical and mental retardation. Read More

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December 2014

Are Agonistic Autoantibodies against G-Protein Coupled Receptors Involved in the Development of Long-Term Side Effects of Tumor Chemotherapy?

Case Rep Oncol 2013 Jan 21;6(1):104-8. Epub 2013 Feb 21.

Charité - Universitätsmedizin Berlin, Berlin, Germany.

Metabolic syndrome and cardiomyopathies are long-term consequences of chemo- and radiotherapy and develop long after completing the initial tumor treatment. The slow progression of such late effects might be an indication of the involvement of autoimmune processes in the development of such follow-up consequences. Functionally active autoantibodies, which permanently stimulate relevant cell receptors, might be a crucial component. Read More

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January 2013