Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Nevus psiloliparus"'
Autor:
Abubakar Garba Farouk, Abubakar Farate, Zainab Yero Musa, Abba Bukar Zarami, Hajja-Falmata Kachallah Monguno
Publikováno v:
Türk Oftalmoloji Dergisi, Vol 51, Iss 1, Pp 66-69 (2021)
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 sk
Externí odkaz:
https://doaj.org/article/494deb90b5c6412aabf55d25396d99ae
Akademický článek
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Akademický článek
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Autor:
Sarah Ventéjou, Marie-Anne Morren, Kimberley George, Maxime Vernez, Daniel Hohl, Stephanie Christen-Zäch
Publikováno v:
Acta Dermato-Venereologica, Vol 100, Iss 8, p adv00104 (2020)
Abstract is missing (Quiz)
Externí odkaz:
https://doaj.org/article/1863fea431f148b6b5109f3d4481b05e
Autor:
Mohammad Sharifi, Maral Namdari
Publikováno v:
Journal of Current Ophthalmology, Vol 28, Iss 3, Pp 155-158 (2016)
Purpose: To report a rare case of encephalocraniocutaneous lipomatosis (ECCL) presented with characteristic multiple organ involvement. Methods: A 7-day-old white Iranian girl was referred with ocular, skin and brain abnormalities. Results: The findi
Externí odkaz:
https://doaj.org/article/cb687971a85243f78b3d89b35b4dfc51
Encephalocraniocutaneous lipomatosis with calvarial exostosis - Case report and review of literature
Publikováno v:
Indian Journal of Radiology and Imaging, Vol 23, Iss 04, Pp 333-336 (2013)
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 cutane
Externí odkaz:
https://doaj.org/article/1beb3460bf5042f0b8d5789ecbc04a24
Publikováno v:
Journal of Cutaneous Pathology. 47:633-637
Nevus psiloliparus is a rare fatty tissue nevus that is a marker for encephalocraniocutaneous lipomatosis, a neurocutaneous syndrome with ocular and central nervous system anomalies. Clinically, nevus psiloliparus is often described as a congenital a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bfba263ca565f2e8e316f049c316d5b2
https://doi.org/10.1111/cup.13663
https://doi.org/10.1111/cup.13663
Autor:
Sophie Collardeau-Frachon, Hervé Sartelet, Didier Riethmuller, Julie Cattin, Justine Formet, Marion Lenoir
Publikováno v:
Pediatric and developmental pathology
Pediatric and developmental pathology, 2022, 25 (2), pp.180-185. ⟨10.1177/10935266211040802⟩
Pediatric and developmental pathology, 2022, 25 (2), pp.180-185. ⟨10.1177/10935266211040802⟩
International audience; 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 clinic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb501530bd6608aec91c71d0ee28ddef
https://www.hal.inserm.fr/inserm-03755201
https://www.hal.inserm.fr/inserm-03755201
Autor:
Thania Ordaz-Robles, Enrique O Graue-Hernandez, Sofia Perez-Solorzano, Andrew Olivo-Payne, Jose Antonio Bermudez-Magner, Oscar F. Chacon-Camacho, Andrea Córdoba, Juan Carlos Zenteno, Arturo Ramirez-Miranda, Alejandro Navas
Publikováno v:
The American Journal of Case Reports
Patient: Female, 11 Final Diagnosis: Encephalocraniocutaneous lipomatosis Symptoms: Conjunctivitis • Ocular irritation Medication: — Clinical Procedure: Excisional biopsy Specialty: Ophthalmology Objective: Rare disease Background: Encephalocrani
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11712aadcc8c196ddd2002f16673c8a6
http://europepmc.org/articles/PMC6824416
http://europepmc.org/articles/PMC6824416
Autor:
Vicenç Garcia-Patos, Marta Gómez-García de la Banda, Susana Boronat, Paula Fernández-Álvarez, Eduardo F Tizzano, Ángel Sánchez-Montañez García-Carpintero
Publikováno v:
Journal of Pediatric Neurology. 18:258-262
Encephalocraniocutaneous lipomatosis (ECCL) is a congenital neurocutaneous disorder. It is characterized by ocular anomalies (epibulbar choristomas), skin lesions (as nevus psiloliparus and subcutaneous lipomas), and central nervous system abnormalit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4a18243d58469e3ff04db58f13565a04
https://doi.org/10.1055/s-0039-1692985
https://doi.org/10.1055/s-0039-1692985