Premium
Langerhans cell histiocytosis and multiple reticulohistiocytomas in a patient with TAR syndrome: An association not previously described
Author(s) -
Hipólito Lucía N.,
MendozaCembranos María D.,
Villaescusa María T.,
JoVelasco Margarita,
Requena Luis,
AlegríaLanda Victoria
Publication year - 2019
Publication title -
journal of cutaneous pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 75
eISSN - 1600-0560
pISSN - 0303-6987
DOI - 10.1111/cup.13483
Subject(s) - langerhans cell histiocytosis , histiocyte , histiocytosis , pathology , medicine , langerhans cell , concomitant , tar (computing) , histiocytosis x , dermatology , immunology , antigen , disease , computer science , programming language
We describe a patient with thrombocytopenia‐absent radius (TAR) syndrome, multisystemic Langerhans cell histiocytosis and multiple reticulohistiocytomas. A mutational study by massive sequencing identified the Val600Glu (V600E) BRAF mutation in the Langerhans cell histiocytosis lesions, but no molecular alterations were found in the reticulohistiocytoma lesions. The concomitant presence in the same patient of more than one type of histiocytosis from two different groups recognized in the most recent Histiocyte Society classification is an extremely rare event. Our case is the first reported case of multisystemic Langerhans cell histiocytosis and multiple reticulohistiocytomas in a patient with TAR syndrome.