„Café-au-lait“ Maculae in the Diagnostics of Child Tumorous Diseases
Authors:
D. Ilenčíková 1,2; D. Ďurovčíková 2; L. Copáková 1; D. Štrbová 1; J. Šuvada 1; A. Rybárová 4; A. Hlavatá 4; K. Wimmer 3
Authors place of work:
Oddelenie onkologickej genetiky, Národný onkologický ústav, Bratislava
primárka MUDr. D. Ilenčíková, PhD.
1; Katedra klinickej genetiky SZU, Bratislava
vedúca doc. MUDr. D. Ďurovčíková, CSc.
2; Oddelenie biológie a genetiky, Viedenská univerzita, Viedeň
vedúca prof. RNDr. Ch. Fonatsch
3; II. Detská klinika LFUK a DFNsP, Bratislava
prednosta prof. MUDr. L. Kovács, DrSc.
4
Published in the journal:
Čes-slov Pediat 2009; 64 (9): 406-414.
Category:
Review
Summary
Café-au-lait maculae are the most frequently associated with neurofibromatosis type 1 disorder. Patients with NF1 develop light- to dark-brown CAL spots with smooth or irregular margins. The diagnosis is confirmed by presence of multiple spots, and at the prepubertal age the finding of six or more CAL maculae larger than 0.5 cm in diameter and at the postpubertal age those larger than 1.5 cm in diameter are required.
However, the finding of hyperpigmentations may represent lots of other genetic or genetically determined disorders. Many of them may predispose to a multiorgan injury or to development of malignancy.
This work describes a group of disorders characterized by CAL maculae that are also associated with:
1. multisystemic affection, 2. inherited diseases and malignances, 3. chromosomal instability syndromes and malignances, 4. neurofibromatosis and malignances, 5. a new syndrome of constitution deficit “ DNA repair system” (CMMR-D). The data about the character of CAL maculae, typical symptoms and type of malignances in individual syndromes serve to improve the differential diagnosis of the tumor disorders in childhood. Molecular diagnostics of germinal mutations may detect very effectively families at high risk for malignancy and help provide primary prevention.
Key words:
café-au-lait, neurofibromatosis type 1, Watson syndrome, NF like, CMMR-D, malignance in childhood
Zdroje
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Štítky
Neonatology Paediatrics General practitioner for children and adolescentsČlánok vyšiel v časopise
Czech-Slovak Pediatrics
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