Ano de Publicação: 2024
AUTORIA
Suely Fazio Ferraciolli1,2 · Mario Tortora3 · Luis Felipe de Souza Godoy4 · Yuri Reis Casal5 · Leandro Tavares Lucato1
Mario Tortora
mario.tortora@unina.it
1 Department of Radiology, Faculdade de Medicina,
Universidad de São Paulo, São Paulo, Brazil
2 Diagnósticos da América SA (DASA), São Paulo, Brazil
3 Department of Advanced Biomedical Sciences, University of
Naples “Federico II”, Naples, Italy
4 Hospital Israelita Albert Einstein, São Paulo, Brazil
5 Department of Pathology, Faculdade de Medicina,
Universidad de São Paulo, São Paulo, Brazil
RESUMO
Haberland syndrome or encephalocraniocutaneous lipomatosis
(ECCL) is a rare ectomesodermal dysgenesis
defined by the involvement of multiple systems, including:
eyes; skin; central nervous system, commonly unilateral;
bone. It was first recognized in 1970, and about 160 patients
have been reported. This disorder is a rare sporadic
RASopathy due to one of two mutually exclusive fibroblast
growth factor receptor 1 (FGFR1) mutations p.N546K or
p.K656E. These activating hotspot mutations are identified
in affected tissues but not in the peripheral blood of ECCL
patients and are likely the result of postzygotic constitutional
mosaicism promoting locally constitutive activation
of the RAS-MAPK pathway. The same FGFR1 mutations
occur in subgroups of sporadic low-grade gliomas (LGG),
indicating a probable intersection between ECCL and tumorigenesis,
a possibility further substantiated by reports of
brain tumors in ECCL cases with wide-ranging histopathological
subtypes [1]. We report the first described case of
an adolescent with Haberland syndrome who developed
a diffuse leptomeningeal glioneural tumor (DL-GNT). The
development of DL-GNT in this case strongly suggests
that close clinical and radiological follow-up is essential in
children with established ECCL.