Barber–Say syndrome - Misplaced Pages

(Redirected from Hypertrichosis atrophic skin ectropion macrostomia) Medical condition

Barber Say syndrome
Other names	Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome

Barber-Say syndrome has an autosomal dominant pattern of inheritance
Usual onset	Neonatal

Barber-Say syndrome (BSS) is a very rare congenital disorder associated with excessive hair growth (hypertrichosis), fragile (atrophic) skin, eyelid deformities (ectropion), and an overly broad mouth (macrostomia).

Barber-Say syndrome is phenotypically similar to Ablepharon macrostomia syndrome, which is also associated with dominant mutations in TWIST2.

Signs and symptoms

Severe hypertrichosis, especially of the back
Skin abnormalities, including hyperlaxity and redundancy
Facial dysmorphism, including macrostomia
Eyelid deformities
Abnormal and low-set ears
Bulbous nasal tip with hypoplastic alae nasi
Low frontal hairline

Genetics

Multiple cases of parent-to-child transmission suggest that Barber-Say syndrome exhibits autosomal dominant inheritance. Exome sequencing and expression studies have shown that BSS is caused by mutations in the TWIST2 gene that affect a highly conserved residue of TWIST2 (twist-related protein 2). TWIST2 is a basic helix-loop-helix transcription factor that binds to E-box DNA motifs (5'-CANNTG-3') as a heterodimer and inhibits transcriptional activation. Because TWIST2 mediates mesenchymal stem cell differentiation and prevents premature or ectopic osteoblast differentiation, mutations in TWIST2 that disrupt these functions by altering DNA-binding activity could explain many of the phenotypes of BSS.

Diagnosis

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Epidemiology

The prevalence of Barber Say syndrome is less than 1 in 1,000,000. As of 2017, only 15 cases have been reported in the literature.

References

"Barber Say syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2019-01-21.
^ Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, et al. (July 2015). "Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes". American Journal of Human Genetics. 97 (1): 99–110. doi:10.1016/j.ajhg.2015.05.017. PMC 4572501. PMID 26119818.
Online Mendelian Inheritance in Man (OMIM): BARBER-SAY SYNDROME; BBRSAY - 209885
Universal protein resource accession number Q8WVJ9 for "TWIST2 – Twist-related protein 2 – Homo sapiens (Human) – TWIST2 gene & protein " at UniProt.
Isenmann S, Arthur A, Zannettino AC, Turner JL, Shi S, Glackin CA, Gronthos S (October 2009). "TWIST family of basic helix-loop-helix transcription factors mediate human mesenchymal stem cell growth and commitment". Stem Cells. 27 (10): 2457–68. doi:10.1002/stem.181. PMID 19609939. S2CID 5353857.
Lee MS, Lowe G, Flanagan S, Kuchler K, Glackin CA (November 2000). "Human Dermo-1 has attributes similar to twist in early bone development". Bone. 27 (5): 591–602. doi:10.1016/S8756-3282(00)00380-X. PMID 11062344.
"Orphanet: Barber Say syndrome". www.orpha.net. January 2014. Retrieved 2019-01-21.
Yohannan MD, Hilgeman J, Allsbrook K (July 2017). "TWIST2 gene mutation". Clinical Case Reports. 5 (7): 1167–1169. doi:10.1002/ccr3.1014. PMC 5494409. PMID 28680619.

External links

Classification	D ICD-10: Q87.0 OMIM: 209885 MeSH: C537908 DiseasesDB: 33294
External resources	Orphanet: 1231

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