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conferenceseries
.com
Volume 7, Issue 5 (Suppl)
J Clin Exp Pathol
ISSN: 2161-0681 JCEP, an open access journal
Pathology Congress 2017
November 13-14, 2017
NOVEMBER 13-14, 2017 OSAKA, JAPAN
14
th
Asia Pacific Pathology Congress
Beare-Stevenson cutis gyrata syndrome with full body autopsy: Acase report with vascular abnormalities
Nannaphat Atsawaphidsawat, Surachat Chaiwiriyakul, Sakkarn Sangkhamanon, Chaiwat Aphivatanasiri and Piti Ungarereevittaya
Khon Kaen University, Thailand
Introduction:
Beare-Stevenson cutis gyrata Syndrome (BSS) is a seriously extremely rare genetic disorder characterized by
skin abnormalities and the premature fusion of certain bones of the skull (craniosynostosis). Recently evidence was presented
that BSS is caused by a mutation of the
FGFR2
gene. Here, we demonstrate the first Thai case of BSS (the 27
th
case in English
publication) with full body autopsy.
Case Report:
A full-term Thai male infant, without any evidences of congenital anomalies in his family, was found having
bilateral ventriculomegaly during intrauterine period. Soon after birth, the baby developed cyanosis and immediate intubation
was given. His condition became worsen, until his death in second day of life. Consent for full body autopsy was given by
the family members. External examination revealed classical features of BSS including clover-leaf skull shape, cutis gyrata,
prominent umbilical stump, ambiguous genitalia, but acanthosis nigricans was not detected. Internal examination revealed
craniosynostosis, Arnold-Chiari malformation type II, hydrocephalus and agenesis of corpus callosum. Interestingly,
microscopic study of skin at the nape of neck showed glomuvenous malformation and glomangiomyoma-like lesions that was
the first perivascular tumor described in BSS. Molecular analysis of
FGFR2
gene confirmed a heterozyguous p.Tyr375Cys,
which was identical to that detected in previous 14 cases.
Conclusion:
BSS should be considered in patients presented with craniosynostosis and cutis gyrata. Associated vascular
malformations in BSS were first described in this case. The further study of additional patients will provide more information
about the clinical phenotypes.
Biography
Nannaphat Atsawaphidsawat has completed her MD from Khon Kaen University in 2016. She has then continued her specialty in Anatomical Pathology, Faculty
of Medicine, Khon Kaen University, Thailand.
nnpats@gmail.comNannaphat Atsawaphidsawat et al., J Clin Exp Pathol 2017, 7:5 (Suppl)
DOI: 10.4172/2161-0681-C1-041