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Langerhans cell histiocytosis in a young patient with Pitt–Hopkins syndrome
Author(s) -
Macchiaiolo Marina,
Panfili Filippo Maria,
Gonfiantini Michaela Veronika,
Mastrogiorgio Gerarda,
Buonuomo Paola Sabrina,
Gaspari Stefania,
Longo Daniela,
Zollino Marcella,
Bartuli Andrea
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61840
Subject(s) - langerhans cell histiocytosis , histiocytosis , tcf4 , transcription factor , medicine , phenotype , disease , biology , pathology , genetics , gene , enhancer
Pitt–Hopkins syndrome (PTHS, MIM #610954) is a rare neurodevelopmental disease characterized by the association of intellectual disability, characteristic facial gestalt and episodes of abnormal and irregular breathing. PTHS is due to heterozygous loss‐of‐function variants in the TCF4 gene (transcription factor 4, MIM #602272) encoding for a basic helix–loop–helix transcription factor. TCF4 is highly expressed during early development of the nervous system, and it is involved in cellular differentiation and proliferation. Since the first clinical description in 1978, less than 200 PTHS patients have been described. A comprehensive phenotype, especially regarding cancer predisposition, is not yet well defined. We report the case of a 7‐year‐old boy affected by PTHS with a 4‐week history of progressive swelling of the frontal bones diagnosed with Langerhans cell histiocytosis.