2021, Number 2
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Dermatología Cosmética, Médica y Quirúrgica 2021; 19 (2)
What is your Diagnosis? / Alagille Syndrome/Eruptive Xanthomas
Garza TTF, Ruiz MÉA, Garza TÓA, González CD, Navarrete SJ
Language: Spanish
References: 20
Page: 215-216
PDF size: 343.19 Kb.
Text Extraction
No abstract.
REFERENCES
García MA, Ramonet M, Ciocca M et al., Alagille syndrome: cutaneous manifestations in 38 children, Pediatr Dermatol 2005; 22(1):11-4. doi:10.1111/j.1525-1470.2005.22102.x.
Kamath BM, Baker A, Houwen R, Todorova L y Kerkar N, Systematic review: the epidemiology, natural history, and burden of Alagille syndrome, J Pediatr Gastroenterol Nutr 2018; 67(2):148-56.
Jesina D, Alagille syndrome: an overview, Neonatal Netw 2017; 36(6):343-7. doi:10.1891/0730-0832.36.6.343.
Alagille D, Odièvre M, Gautier M y Dommergues JP, Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur, J Pediatr 1975; 86(1):63-71. doi:10.1016/S0022- 3476(75)80706-2.
Gilbert MA, Bauer RC, Rajagopalan R et al., Alagille syndrome mutation update: Comprehensive overview of jag1 and notch2 mutation frequencies and insight into missense variant classification, Hum Mutat 2019; 40(12):2197-220. doi:10.1002/humu.23879.
Mitchell E, Gilbert M y Loomes KM, Alagille syndrome, Clin Liver Dis 2018; 22(4):625-41. doi:10.1016/j.cld.2018.06.001.
Martínez AM, Alfredo C, Cedillos M et al., Manifestaciones dermatológicas del síndrome de Alagille, Bol Med Hosp Infant Mex 2012; 69(2): 139-43.
Emerick KM, Rand EB, Goldmuntz E, Krantz ID, Spinner NB y Piccoli DA, Features of Alagille syndrome in 92 patients: frequency and relation to prognosis, Hepatology 1999; 29(3):822-9. doi:10.1002/ hep.510290331.
Schwartz R, Rehder K, Parsons DJ y Morrell DS, Intense pruritus and failure to thrive in Alagille syndrome, J Am Acad Dermatol 2008; 58(2 Suppl. 1). doi:10.1016/j.jaad.2007.03.029.
Atresia biliar y trastornos neonatales de las vías biliares. En Wyllie R y Hyams J (eds.), Gastroenterología pediátrica, Filadelfia, McGraw-Hill Interamericana, 2001, pp. 640-1.
Buckley DA, Higgins EM y Du Vivier AWP, Resolution of xanthomas in Alagille syndrome after liver transplantation, Pediatr Dermatol 1998; 15(3):199-202. doi:10.1046/j.1525-1470.1998.1998015199.x.
Kamath BM, Loomes KM, Oakey RJ y Krantz ID, Supernumerary digital flexion creases: an additional clinical manifestation of Alagille syndrome, Am J Med Genet 2002; 112(2):171-5. doi:10.1002/ajmg.10628.
Alagille D, Estrada A, Hadchouel M, Gautler M, Odièvre M y Dommergues JP, Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases, J Pediatr 1987; 110(2):195-200. doi:10.1016/S0022-3476(87)80153-1.
Giménez JCM, Del Río Mapelli L y Camacho Martínez FC, Le syndrome d’Alagille. Étude clinique et histo-pathologique, Ann Dermatol Venereol 1984; 111(3).
Ho NC, Lacbawan F, Francomano CA y Ho V, Severe hypodontia and oral xanthomas in Alagille syndrome, Am J Med Genet 2000; 93(3): 250-2. doi:10.1002/1096-8628(20000731)93:3.
Watson GH y Miller V, Arteriohepatic dysplasia. Familial pulmonary arterial stenosis with neonatal liver disease, Arch Dis Child, 1973; 48(6):459-66. doi:10.1136/adc.48.6.459.
Pearson HJ, Mosser JL y Jacks SK, The triad of pruritus, xanthomas, and cholestasis: two cases and a brief review of the literature, Pediatr Dermatol 2017; 34(6):e305-8. doi:10.1111/pde.13306.
Ben Ameur S et al., Management of cholestatic pruritus in children with Alagille syndrome: case report and literature review, Archives de Pediatrie 2016; xxx: 1-4.
Tempark T et al., A 3-year-old girl with underlying Alagille syndrome, presenting with generalized whitish papules, Clinical and Experimental Dermatology 2015; 40: 339-41.
Hilscher M, Cholestatic liver diseases: a primer for generalists and subspecialists, Mayo Clinic 2020; 95(10):2263-79.