Múltiples xantomas en un paciente con síndrome de Alagille

María Candela Viada Peláez; María Marta Buján; María del Valle Centeno; Andrea Bettina Cervini

doi:10.47196/da.v26i3.2103

Authors

María Candela Viada Peláez Dermatology Service, National Hospital of Pediatrics Prof. Dr. Juan P. Garrahan, Autonomous City of Buenos Aires, Argentina
María Marta Buján Dermatology Service, National Hospital of Pediatrics Prof. Dr. Juan P. Garrahan, Autonomous City of Buenos Aires, Argentina
María del Valle Centeno Pathological Anatomy Service, National Hospital of Pediatrics Prof. Dr. Juan P. Garrahan, Autonomous City of Buenos Aires, Argentina
Andrea Bettina Cervini Dermatology Service, National Hospital of Pediatrics Prof. Dr. Juan P. Garrahan, Autonomous City of Buenos Aires, Argentina

DOI:

https://doi.org/10.47196/da.v26i3.2103

Keywords:

Alagille syndrome, cholestasis, hypercholesterolemia, JAG1, xanthoma

Abstract

Alagille syndrome (ALGS) is characterized by the presence of chronic cholestasis caused by bile duct hypoplasia, vertebral, ophthalmic and cardiac abnormalities, as well as a characteristic facial phenotype. Its inheritance is autosomal dominant, most frequently caused by a mutation in the JAG1 gene. We present a 3-year-old boy with ALGS who, presented with widespread pruritic xanthomas localized on the face, trunk, and limbs due to the associated hypercholesterolemia.

The aim of this publication is to describe a patient with ALGS and multiple skin lesions associated with intense refractory pruritus. We emphasize the importance of monitoring serum cholesterol levels and liver disease in patients with cutaneous xanthomas.

Author Biographies

María Candela Viada Peláez, Dermatology Service, National Hospital of Pediatrics Prof. Dr. Juan P. Garrahan, Autonomous City of Buenos Aires, Argentina

Ex-grantee, Garrahan Hospital

María Marta Buján, Dermatology Service, National Hospital of Pediatrics Prof. Dr. Juan P. Garrahan, Autonomous City of Buenos Aires, Argentina

Medical Doctor, Garrahan Hospital

María del Valle Centeno, Pathological Anatomy Service, National Hospital of Pediatrics Prof. Dr. Juan P. Garrahan, Autonomous City of Buenos Aires, Argentina

Medical Doctor, Garrahan Hospital

Andrea Bettina Cervini, Dermatology Service, National Hospital of Pediatrics Prof. Dr. Juan P. Garrahan, Autonomous City of Buenos Aires, Argentina

Head of the Dermatology Service, Garrahan Hospital

References

I. Callea M, Bahşi E, Montanari M, Ince B, et ál. Alagille syndrome: a review. J Int Dent Med Res 2013;6:54-58.

II. Saleh M, Kamath BM, Chitayat D. Alagille syndrome: clinical perspectives. Appl Clin Genet 2016;9:75-82.

III. Turnpenny PD, Ellard S. Alagille syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet 2012;20:251-257.

IV. García MA, Ramonet M, Ciocca M, Cabrera H, et ál. Alagille syndrome: cutaneous manifestations in 38 children. Pediatr Dermatol 2005;22:11-14.

V. Ruiz-Castillo M, Michel-Penichet F, Cervantes-Bustamante R, Zarate- Mondragón F, et ál. Síndrome de Alagille: informe de 12 casos en el Instituto Nacional de Pediatría. Rev Enfer Infec Pediatr 2007;21:13-17.

VI. Ciocca M, Álvarez F. Síndrome de Alagille. Arch Argent Pediatr 2012;110:509-515.

VII. Pearson HJ, Mosser JL, Jacks SK. The triad of pruritus, xanthomas, and cholestasis: Two cases and a brief review of the literature. Pediatr Dermatol 2017;34:305-308.

VIII. Micaglio E, Andronache AA, Carrera P, Monasky MM, et ál. Novel JAG1 Deletion variant in patient with atypical Alagille syndrome. Int J Mol Sci 2019;20:6247.

IX. Spinner NB, Gilbert MA, Loomes KM, Krantz ID. Alagille syndrome. 2000 [Updated 2019 Dec 12]. En: Adam MP, Ardinger HH, Pagon RA, et ál., eds. GeneReviews® [Consultado septiembre 2020].

X. Tempark T, Chatproedprai S, Wititsuwannakul J, Wananukul S. A 3-year-old girl with underlying Alagille syndrome, presenting with generalized whitish papules. Clin Exp Dermatol 2015;40:339-341.