• Encephalocraniocutaneous lipomatosis (ECCL), is a rare condition primarily affecting the brain, eyes, and skin of the head and face. (wikipedia.org)
  • Eighty to ninety percent of those with encephalocraniocutaneous lipomatosis are unable to produce and keep fat tissue and have multiple lipomas. (wikipedia.org)
  • citation needed] Approximately two thirds of individuals with Encephalocraniocutaneous lipomatosis have intracranial and/or intraspinal lipomas. (wikipedia.org)
  • citation needed] The most common ocular abnormality in encephalocraniocutaneous lipomatosis is a form of benign growth called a choristoma which can occur in one or both eyes. (wikipedia.org)
  • Encephalocraniocutaneous lipomatosis can result from mutations in the FGFR1 gene, which provides instructions for making a protein called fibroblast growth factor receptor 1 (FGFR1). (wikipedia.org)
  • Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. (medlineplus.gov)
  • Encephalocraniocutaneous lipomatosis (ECCL) is a rare, congenital, neurocutaneous disorder with unilateral lipomatous cutaneous neoplasms devoid of hair and ipsilateral ophthalmologic and neurologic malformations. (medscape.com)
  • [ 1 ] They suggested that the man had a previously unreported neurocutaneous syndrome, which they termed encephalocraniocutaneous lipomatosis. (medscape.com)
  • Encephalocraniocutaneous lipomatosis has also become known under the term Fishman syndrome. (medscape.com)
  • All reported cases of encephalocraniocutaneous lipomatosis are sporadic. (medscape.com)
  • A nonhereditary, autosomal mutation that may survive only in a mosaic state may be a cause of the clinical picture of encephalocraniocutaneous lipomatosis. (medscape.com)
  • There are no effective treatment modalities for encephalocraniocutaneous lipomatosis (ECCL). (medscape.com)
  • Owing to reported midline low-grade gliomas in the suprasellar region in 4 encephalocraniocutaneous lipomatosis (ECCL) patients, some authors also recommend ophthalmologic and endocrinologic control in order to quickly discover any warning signs. (medscape.com)
  • In 2004, Cultrera et al described a female infant that showed significant overlap of encephalocraniocutaneous lipomatosis with oculocerebrocutaneous Delleman syndrome. (medscape.com)
  • Haberland C, Perou M. Encephalocraniocutaneous lipomatosis. (medscape.com)
  • Happle R, Steijlen PM. [Encephalocraniocutaneous lipomatosis. (medscape.com)
  • Observations on encephalocraniocutaneous lipomatosis. (medscape.com)
  • Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene. (medscape.com)
  • Ayer RE, Zouros A. Encephalocraniocutaneous lipomatosis: a review of its clinical pathology and neurosurgical indications. (medscape.com)
  • Hauber K, Warmuth-Metz M, Rose C, Brocker EB, Hamm H. Encephalocraniocutaneous lipomatosis: a case with unilateral odontomas and review of the literature. (medscape.com)
  • Moog U. Encephalocraniocutaneous lipomatosis. (medscape.com)
  • Encephalocraniocutaneous lipomatosis: a rare neurocutaneous syndrome. (medscape.com)
  • Encephalocraniocutaneous lipomatosis with didymosis aplasticopsilolipara. (medscape.com)
  • Almer Z, Vishnevskia-Dai V, Zadok D. Encephalocraniocutaneous lipomatosis: case report and review of the literature. (medscape.com)
  • Valladares MJ, Blanco MJ, Lopez-Lopez F, Gonzalez F. Bilateral ocular involvement in encephalocraniocutaneous lipomatosis. (medscape.com)
  • Thakur S, Thakur V, Sood RG, Thakur CS, Khanna S. Encephalocraniocutaneous lipomatosis with calvarial exostosis - Case report and review of literature. (medscape.com)
  • Pregowska K, Jurkiewicz E, Miszczak-Knecht M, Turska-Kmiec A, Bieganowska K. Persistent multifocal atrial tachycardia in infant with encephalocraniocutaneous lipomatosis: a case report. (medscape.com)
  • Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: blind men and an elephant or separate syndromes? (medscape.com)
  • Brain anomalies in encephalocraniocutaneous lipomatosis. (medscape.com)
  • Grade II pilocytic astrocytoma in a 3-month-old patient with encephalocraniocutaneous lipomatosis (ECCL): case report and literature review of low grade gliomas in ECCL. (medscape.com)
  • Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis? (medscape.com)
  • Zielinska-Kazmierska B, Grodecka J, Jablonska-Polakowska L, Arkuszewski P. Mandibular osteoma in the encephalocraniocutaneous lipomatosis. (medscape.com)
  • Koishi GN, Yoshida M, Alonso N, Matushita H, Goldenberg D. Encephalocraniocutaneous lipomatosis (Haberland's syndrome): a case report of a neurocutaneous syndrome and a review of the literature. (medscape.com)
  • Multiple terms have been used to describe this fat accumulation such as the non-alcoholic fatty pancreas (NAFP), fatty infiltration (FI) of the pancreas, pancreatic steatosis, pancreatic lipomatosis, fatty replacement, and lipomatous pseudohypertrophy of the pancreas. (fitnesshacks.org)
  • First described by Brodie in 1846 as a lipomatous cervical collar. (acquaintpublications.com)
  • Milder JBS phenotypes have already been described, hence the lack of multiple congenital anomalies or mental retardation will not eliminate this symptoms.78, 79 Pearson Symptoms That is a rare multisystem disorder due to defects within the oxidative phosphorylation because of sporadic mutations within the mitochondrial DNA80. (healthandwellnesssource.org)
  • Historically, the clinical diagnoses in patients with PIK3CA activating mutations have included Hemihyperplasia Multiple Lipomatosis (HHML), Vascular Malformations, Scoliosis/Skeletal and Spinal (CLOVES) syndrome, macrodactyly and the related megalencephaly syndromes, Megalencephaly-Capillary Malformation Polymicrogyria (MCAP or M-CM) and Dysplastic Megalencephaly (DMEG) [ 10 ]. (longdom.org)
  • Pearson Symptoms is recognized from SDS by the current presence of sideroblastic anemia, bone tissue marrow adjustments, pancreatic fibrosis instead of lipomatosis, and lack of bone tissue lesions. (healthandwellnesssource.org)
  • This condition is described as sporadic because it occurs in people without a history of the disorder in their family. (wikipedia.org)
  • Haberland and Perou first described the disorder in 1970 in the clinical and necropsy findings of a 51-year-old man who has epilepsy and mental retardation. (medscape.com)
  • Pelvic lipomatosis is a rare disorder of increased fat tissue deposition within the spaces of the pelvis, causing extrinsic compression of the bladder, rectum, and blood vessels. (radiologytoday.net)
  • The English suffixes -phobia , -phobic , -phobe (of Greek origin) occur in technical usage in psychiatry to construct words that describe irrational, disabling fear as a mental disorder (e.g., agoraphobia) and in biology to descibe organisms that dislike certain conditions (e.g., acidophobia). (the-medical-dictionary.com)
  • A 6-year-old male patient (case 1) presented to the Service with lipomatosis and asymmetry, as the primary findings. (rbcp.org.br)
  • The authors describe here a 10-month-old girl with a previous diagnosis of Joubert syndrome who presented with the same type of optic nerve malformation in OU. (bvsalud.org)
  • Congenital opticmeningoceles was the term coined to describe large pseudocystic lesions of the intraorbital segment of the optic nerve. (bvsalud.org)
  • It was named after Haberland and Perou who first described it. (wikipedia.org)
  • Lipedema is commonly described in three stages , although it is important to note that these stages of lipedema are not necessarily progressive. (lipedema.net)
  • After her nieces sought Escrivá's intercession, she had been cured overnight in June 1976, of a painful tumorous lipomatosis with multiple localities that had rendered her an invalid. (opusdei.org)
  • Its rare occurrence being described little over 200 cases in the world literature [1,3] . (acquaintpublications.com)
  • Other rare causes of acquired spinal canal stenosis include epidural lipomatosis and ossification of the posterior longitudinal ligament and/or the ligamentum flavum. (jortho.org)
  • When Do Symptoms of Facial infiltrating lipomatosis Begin? (nih.gov)
  • Approximately one-half of patients with symptomatic pelvic lipomatosis present with lower urinary symptoms, such as increased frequency, dysuria, nocturia, and hesitancy. (radiologytoday.net)
  • This case report describes an elderly patient with Crohn's disease who presented with an unusual case of chronic pancreatitis found on imaging. (consultant360.com)
  • Radiation therapy is not only unsuccessful in treating pelvic lipomatosis, but can also result in bladder outlet and rectal strictures.2 Urinary diversion procedures consisting of ileal conduit, nephrostomy tube, or vesicostomy may be required in cases of severe outlet obstruction. (radiologytoday.net)
  • It was first described in two patients in 1979, by Cohen and Hayden. (rbcp.org.br)
  • In this study we describe two patients who were treated at the Plastic and Reconstructive Surgery Service of the Federal University of Paraná. (rbcp.org.br)
  • The group has described the genomic landscape of head & neck squamous cell carcinoma, esophageal cancer and medullary thyroid cancer, and has developed assays using tumor DNA as a biomarker in saliva and plasma. (uchicago.edu)
  • To provide ample documentation of Escrivá's reputation for miracles, the postulation office had also given the Congregation 75,000 signed statements describing favors of various kinds, including documentation on 20 extraordinary cures attributed to his intercession, selected from among the 36 included in their archives. (opusdei.org)
  • As time passes, more and more metabolic and endocrine disturbances are described in individuals placed on protease inhibitors. (robertogiraldo.com)
  • Hypertriglyceridemia is being described in 79% of the individuals taking protease inhibitors (48). (robertogiraldo.com)
  • This method was first described by Kenawi in 1995, and this exposure encouraged the literature to focus more on minimally invasive lipoma removal methods. (davinciplastic.com)
  • In common usage they also form words that describe dislike or hatred of a particular thing or subject. (the-medical-dictionary.com)
  • Build Args As described in section Configuration for cheap cheat battlebit Dockerfiles Docker build arg can be used. (mikedetimmerman.nl)