Barber-Say syndrome is an unusual dysplasia caused by the mutation of the TWIST2 gene (2q37.3), which encodes a protein that acts at an epigenetic level. The case is presented of a 2-day-old male child in whom ectropion, hypertelorism, hypertrichosis and other dysmorphic features led to the clinical diagnosis of Barber-Say syndrome, which was later confirmed with genetic tests. Around 20 cases have been reported on this syndrome, of which less than half have described the surgical technique, as it represents a surgical challenge. The approach in this case included a lateral tarsorrhaphy and skin grafts taken from the volar surface of the forearm, retroauricular area and supraclavicular fossa, as well as autologous lipografts from the inner side of both thighs for palpebral reconstruction. This is the first case of Barber-Say syndrome in which the use of skin grafts are taken from supraclavicular fossa and forearms.
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Multiple rhabdomyomatous mesenchymal hamartomas in a patient with mosaic Barber-Say syndrome.
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Dermatology Department, Hospital Universitari Son Espases, Spain.
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- * A 9-year-old boy was identified with extensive hair growth (hypertrichosis) and several rhabdomyomatous mesenchymal hamartomas (tumor-like growths) on his face.
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Graduate Program in Implantology, University of Santo Amaro, School of Dentistry, São Paulo, Brazil.
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Department of Ophthalmology and Visual Sciences, Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
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- Ablepharon-macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are congenital disorders linked to mutations in the TWIST2 gene, featuring notable eye abnormalities including underdeveloped eyelids.
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Barber Say Syndrome (A New Case Report).
Indian Dermatol Online J
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Department of Family Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and macrostomia. A literature review showed less than 20 previously reported cases of Barber Say syndrome. This presentation reports a one day old female with syndrome face, low hairline, coarse face, macrostomia, thin upper lip, bilateral ectropion and hypertelorism, hypertrichosis, senile skin appearance, hypoplastic nipples and one area of mild skin atrophy.
View Article and Find Full Text PDFMultidisciplinary eyelid reconstruction in Barber-Say syndrome: A case report.
Arch Soc Esp Oftalmol (Engl Ed)
April 2019
Servicio de Dermatología, Hospital Universitario y Politécnico La Fe, Valencia, España.
Barber-Say syndrome is an unusual dysplasia caused by the mutation of the TWIST2 gene (2q37.3), which encodes a protein that acts at an epigenetic level. The case is presented of a 2-day-old male child in whom ectropion, hypertelorism, hypertrichosis and other dysmorphic features led to the clinical diagnosis of Barber-Say syndrome, which was later confirmed with genetic tests.
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