Cutaneous lipomas and macrocephaly as early signs of PTEN hamartoma tumor syndrome.
Cowden syndrome
PTEN-related hamartoma syndrome
lipoma
macrocephaly
Journal
Pediatric dermatology
ISSN: 1525-1470
Titre abrégé: Pediatr Dermatol
Pays: United States
ID NLM: 8406799
Informations de publication
Date de publication:
Sep 2020
Sep 2020
Historique:
received:
09
03
2020
revised:
10
05
2020
accepted:
02
06
2020
pubmed:
14
7
2020
medline:
15
5
2021
entrez:
14
7
2020
Statut:
ppublish
Résumé
The diagnosis of PTEN hamartoma tumor syndrome (PHTS) is difficult in children because they usually do not meet diagnostic criteria. The objective of our study was to characterize lipoma as an early presentation of PHTS. We performed a retrospective review of children with PHTS diagnosed in French academic hospitals from 2000 to 2019. We included patients presenting at least one lipoma and PTEN-related disorder confirmed genetically. Thirteen children were included (mean age 5.5 years [range 2.5-16]). All children had solitary (n = 5) or multiple (n = 8) lipomas, all located on the trunk. Clinical examination revealed macrocephaly in all patients. Genital lentiginosis was found in all patients in whom genitalia were examined (n = 6). In addition to the classical presentation of PHTS with neurological disorders and macrocephaly, some patients, especially the youngest ones, have an initial dermatologic presentation with multiple lipomas. Search for penile freckling and macrocephaly in these patients allows for the diagnosis of PHTS. Lipomatosis should be a major diagnostic criterion in children.
Sections du résumé
BACKGROUND
BACKGROUND
The diagnosis of PTEN hamartoma tumor syndrome (PHTS) is difficult in children because they usually do not meet diagnostic criteria. The objective of our study was to characterize lipoma as an early presentation of PHTS.
METHODS
METHODS
We performed a retrospective review of children with PHTS diagnosed in French academic hospitals from 2000 to 2019. We included patients presenting at least one lipoma and PTEN-related disorder confirmed genetically.
RESULTS
RESULTS
Thirteen children were included (mean age 5.5 years [range 2.5-16]). All children had solitary (n = 5) or multiple (n = 8) lipomas, all located on the trunk. Clinical examination revealed macrocephaly in all patients. Genital lentiginosis was found in all patients in whom genitalia were examined (n = 6).
CONCLUSIONS
CONCLUSIONS
In addition to the classical presentation of PHTS with neurological disorders and macrocephaly, some patients, especially the youngest ones, have an initial dermatologic presentation with multiple lipomas. Search for penile freckling and macrocephaly in these patients allows for the diagnosis of PHTS. Lipomatosis should be a major diagnostic criterion in children.
Substances chimiques
PTEN Phosphohydrolase
EC 3.1.3.67
PTEN protein, human
EC 3.1.3.67
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
839-843Informations de copyright
© 2020 Wiley Periodicals LLC.
Références
Coffin CM. Adipose and myxoid tumors. In: Coffin CM, Dehner LP, O’Shea PA, eds. Pediatric Soft Tissue Tumors. Baltimore, MD: Williams and Wilkins; 1997:254.
Hayashi Y, Ohi R, Tomita Y, et al. Bannayan-Zonana syndrome associated with lipomas, hemangiomas, and lymphangiomas. J Pediatr Surg. 1992;27:722-723.
Hanssen AM, Fryns JP. Cowden syndrome. J Med Genet. 1995;32:117-119.
Marsh DJ, Kum JB, Lunetta KL, et al. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet. 1999;8:1461-1472.
Pilarski R. PTEN hamartoma tumor syndrome: a clinical overview. Cancers (Basel). 2019;11(6):844.
Parisi MA, Dinulos MB, Leppig KA, et al. The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. J Med Genet. 2001;38:52-58.
Macken WL, Tischkowitz M, Lachlan KL. PTEN Hamartoma tumor syndrome in childhood: a review of the clinical literature. Am J Med Genet C Semin Med Genet. 2019;181:591-610.
Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E. Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst. 2013;105(21):1607-1616.
Yeung KS, Ip JJ, Chow CP, et al. Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum. Am J Med Genet A. 2017;173:978-984.
Hansen-Kiss E, Beinkampen S, Adler B, et al. A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children. J Med Genet. 2017;54:471-478.
Buisson P, Leclair MC, Jacquemont S, et al. Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome. J Pediatr Surg. 2006;41:1601-1603.
Plamper M, Gohlke B, Schreiner F, Woelfle J. Phenotype-driven diagnostic of PTEN hamartoma tumor syndrome: macrocephaly, but neither height nor weight development, is the important trait in children. Cancers. 2019;11(7):975.