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Comorbidity between progressive familial intrahepatic cholestasis and atopic dermatitis in a 19-month-old child.
BMJ Case Rep 2019; 12(10)BC

Abstract

Atopic dermatitis (AD) is the most common chronic skin disease in children, with an increasing prevalence in the past three decades. Adequate treatment is prescribed for individual patient based on symptoms and disease severity. However, further underlying diagnosis should be researched when therapeutic strategies for symptoms fail and skin lesions and pruritus persist. We reported herein the case of a 19-month-old infant with a history of AD unresponsive to treatment due to the type 2 progressive familial intrahepatic cholestasis (PFIC). A new homozygous mutation of the ABCB11 gene was found. The severe pruritus, the early onset jaundice, poor growth and raised transaminase levels with normal gamma glutamyl transpeptidase have led to the suspicion of PFIC. The presence of severe AD and intrahepatic chronic cholestasis, both pruritus associated, could delay a proper diagnosis. To our knowledge, for the first time, a case of comorbidity between type 2 PFIC and AD-like disease had been described.

Authors+Show Affiliations

Department of Pediatrics, Allergy Unit, University of Messina, Messina, Italy ileniapanasiti89@gmail.com.Department of Biomedical Sciences, Medical Genetics, University of Messina, Messina, Italy.Department of Pediatrics, Pediatric Gastroenterology and Cystic Fibrosis Unit, University of Messina, Messina, Italy.Department of Pediatrics, Allergy Unit, University of Messina, Messina, Italy.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

31630127

Citation

Panasiti, Ilenia, et al. "Comorbidity Between Progressive Familial Intrahepatic Cholestasis and Atopic Dermatitis in a 19-month-old Child." BMJ Case Reports, vol. 12, no. 10, 2019.
Panasiti I, Briuglia S, Costa S, et al. Comorbidity between progressive familial intrahepatic cholestasis and atopic dermatitis in a 19-month-old child. BMJ Case Rep. 2019;12(10).
Panasiti, I., Briuglia, S., Costa, S., & Caminiti, L. (2019). Comorbidity between progressive familial intrahepatic cholestasis and atopic dermatitis in a 19-month-old child. BMJ Case Reports, 12(10), doi:10.1136/bcr-2019-230152.
Panasiti I, et al. Comorbidity Between Progressive Familial Intrahepatic Cholestasis and Atopic Dermatitis in a 19-month-old Child. BMJ Case Rep. 2019 Oct 18;12(10) PubMed PMID: 31630127.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Comorbidity between progressive familial intrahepatic cholestasis and atopic dermatitis in a 19-month-old child. AU - Panasiti,Ilenia, AU - Briuglia,Silvana, AU - Costa,Stefano, AU - Caminiti,Lucia, Y1 - 2019/10/18/ PY - 2019/10/21/entrez PY - 2019/10/21/pubmed PY - 2019/10/21/medline KW - bilirubin disorders KW - congenital disorders KW - failure to thrive KW - liver disease KW - paediatrics JF - BMJ case reports JO - BMJ Case Rep VL - 12 IS - 10 N2 - Atopic dermatitis (AD) is the most common chronic skin disease in children, with an increasing prevalence in the past three decades. Adequate treatment is prescribed for individual patient based on symptoms and disease severity. However, further underlying diagnosis should be researched when therapeutic strategies for symptoms fail and skin lesions and pruritus persist. We reported herein the case of a 19-month-old infant with a history of AD unresponsive to treatment due to the type 2 progressive familial intrahepatic cholestasis (PFIC). A new homozygous mutation of the ABCB11 gene was found. The severe pruritus, the early onset jaundice, poor growth and raised transaminase levels with normal gamma glutamyl transpeptidase have led to the suspicion of PFIC. The presence of severe AD and intrahepatic chronic cholestasis, both pruritus associated, could delay a proper diagnosis. To our knowledge, for the first time, a case of comorbidity between type 2 PFIC and AD-like disease had been described. SN - 1757-790X UR - https://www.unboundmedicine.com/medline/citation/31630127/Comorbidity_between_progressive_familial_intrahepatic_cholestasis_and_atopic_dermatitis_in_a_19-month-old_child L2 - https://casereports.bmj.com/cgi/pmidlookup?view=long&pmid=31630127 DB - PRIME DP - Unbound Medicine ER -