TY - JOUR
T1 - Langerhans cell histiocytosis in a young patient with Pitt–Hopkins syndrome
AU - Macchiaiolo, Marina
AU - Panfili, Filippo Maria
AU - Gonfiantini, Michaela Veronika
AU - Mastrogiorgio, Gerarda
AU - Buonuomo, Paola Sabrina
AU - Gaspari, Stefania
AU - Longo, Daniela
AU - Zollino, Marcella
AU - Bartuli, Andrea
N1 - Funding Information:
We would like to thank the patient's family and the AISPH family association (Associazione Italiana Sindrome di Pitt?Hopkins?Insieme di Pi??ONLUS).
Publisher Copyright:
© 2020 Wiley Periodicals LLC
PY - 2020/11/1
Y1 - 2020/11/1
N2 - 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.
AB - 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.
KW - Langerhans cell histiocytosis
KW - Pitt–Hopkins syndrome
KW - TCF4
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U2 - 10.1002/ajmg.a.61840
DO - 10.1002/ajmg.a.61840
M3 - Article
C2 - 32945094
AN - SCOPUS:85091039059
VL - 182
SP - 2746
EP - 2750
JO - Am. J. Med. Genet. Part A
JF - Am. J. Med. Genet. Part A
SN - 1552-4825
IS - 11
ER -