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Year : 2019  |  Volume : 10  |  Issue : 2  |  Page : 158-161  

Barber Say Syndrome (A new case report)

1 Department of Neonatology, Neonatology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
2 Department of Pediatrics, Shiraz University of Medical Sciences, Shiraz, Iran
3 Department of Family Medicine, Shiraz University of Medical Sciences, Shiraz, Iran

Date of Web Publication15-Mar-2019

Correspondence Address:
Hourvash Haghighinejad
Department of Family Medicine, Shiraz University of Medical Sciences, Shiraz
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/idoj.IDOJ_68_18

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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. These findings are consistent with BSS.

Keywords: Barber Say syndrome, ectodermal dysplasia, ectropion, hypertrichosis

How to cite this article:
Rezaei M, Zamani S, Haghighinejad H. Barber Say Syndrome (A new case report). Indian Dermatol Online J 2019;10:158-61

How to cite this URL:
Rezaei M, Zamani S, Haghighinejad H. Barber Say Syndrome (A new case report). Indian Dermatol Online J [serial online] 2019 [cited 2021 Dec 7];10:158-61. Available from: https://www.idoj.in/text.asp?2019/10/2/158/254303

   Introduction Top

The ectodermal dysplasias (EDs) are congenital primary developmental defects in 2 or more tissues originated from embryonic ectoderm. The skin and its appendages such as hair follicles, sweat gland, sebaceous gland and nail are the primarily involve tissues. Abnormalities in other tissues, e.g., ears, eyes, lips, mucous membranes of the mouth or nose, central nervous system are also associated with these diffuse and nonprogressive disorders. Ectodermal dysplasias are inherited diseases that comprise of a large heterogeneous group. To date, more than 192 distinct disorders have been described.[1]

Barber Say syndrome (BSS) is a rare ectodermal dysplasia (Prevalence <1/1 000 000) which presents at birth and is characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and macrostomia.[2] Here we will describe a female neonate presented with signs in favor of BSS.

   Case Report Top

One day old female neonate referred from periphery hospital due to facial and multiple organ anomalies. The patient was a product of normal vaginal delivery from 25 years old woman (G4 L2 A2) with gestational age 38 weeks and birth weight 2800 gr, without any significant problem during pregnancy and delivery. Two abortion in the past medical history of mother happened at about gestational age 3 months without any diagnosis. Four years old male sibling is alive and healthy with only history of mild hypertrichosis. Parents were 2nd degree relatives. There is no family history of any congenital anomaly.

On physical examination, the patient had normal vital signs with abnormal face (low hairline, coarse face, macrostomia, thin upper lip, bilateral severe ectropion and hypertelorism) [Figure 1], hypertrichosis particularly on the back [Figure 2] and lower extremities [Figure 3], senile skin appearance with mild redundant skin, particularly on the posterior of the neck, bilateral hypoplastic nipples and one area of mild skin atrophy (2 cm diameters) on the anterior mid-chest wall with irregular borders. Other physical exams were normal and there was no history of photosensitivity.
Figure 1: Low hair line, coarse face, macrostomia, thin upper lip, bilateral ectropion

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Figure 2: Hypertrichosis on back

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Figure 3: Hypertrichosis on lower extremity

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Small size secundum atrial septal defect (4 mm) in echocardiography was the other associated anomaly. The other para clinical evaluations, including brain and abdominal sonography, chest X-ray, complete blood count, venous blood gas, pulse oximetry, blood glucose, kidney function and electrolytes were normal.

At the time of admission, emergency ophthalmology consult was done with result, bilateral severe ectropion, erythematous lids, chemosis of conjunctiva, severe dry cornea, shallow anterior chamber, hypopigmented iris and normal fundoscopy. Eye care with artificial tear, eye lubricant and local antibiotics were started for the patient. Tarsoraphy was done on the second day of admission and she was discharged from hospital with breast feeding and good condition on the fourth day. After discharge, the patient's growth and development were normal and is under follow up of pediatrician, ophthalmologist and dermatologist for continuing her management.

   Discussion Top

Congenital generalized hypertrichosis (CGH) is a heterogenous group of distinct conditions that differ in phenotype and genotype and has been seen as the major phenotype in 10 different genetic syndromes.[3] Our patient's characteristics are more compatible with BSS than other syndromes.

Barber Say syndrome has variable symptoms, consist of mild and severe presentations. The patient's characteristics are congenital generalized hypertrichosis, facial dysmorphism (typically with bilateral ectropion, absent or sparse eyebrows and lashes, hypertelorism/telecanthus, broad nasal bridge, bulbous nose, macrostomia, thin lips and misshapen ears), hyper laxity and the redundancy of the skin with deep folds, nipple hypoplasia and absence of mammary glands.[2]

The patient described in this case report presented with 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. The combination of these findings consistent with signs of BSS when compared with previous cases reported with this syndrome[4] [Table 1].
Table 1: Comparison of present case with other previous reported cases

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Parental consanguinity is reported in only two of the previous cases as in this present case. The interesting finding in our case was hypertrichosis in her brother who has no other sign of disease. Also secundum atrial septal defect was diagnosed in present case. Other findings in this case are the same as other case reports.

Autosomal dominant and autosomal recessive transmissions, as well as sporadic cases have been reported.[2] Dinulos suggests that at least some cases of Barber Say syndrome are caused by dominant mutations in the TWIST2 gene.[9] The significance of the present case is that her brother has also mild hypertrichosis and no other congenital abnormality was reported in her family. So it is probable that this case is a sporadic one. Unfortunately, because the patient's parents did not permit gene analysis, we cannot have any suggestion in this field.


We are pleased to thank especially the patient's parents for their permission to participate in this study.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published and due efforts will be made to conceal patient identity, but anonymity cannot be guaranteed.[17]

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

   References Top

Shah KN. Ectodermal Dysplasia. Available from: http://www.emedicine.medscape.com/article/1110595-overview. [Last accessed on 2017 Sep 25].  Back to cited text no. 1
Barber-Say Syndrome. Available from: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1231. [Last accessed on 2017 Aug 25].  Back to cited text no. 2
Bubna AK, Veeraraghavan M, Anandan S, Rangarajan S. Congenital generalized hypertrichosis, gingival hyperplasia, a coarse facies with constriction bands: A rare association. Int J Trichology 2015;7:67-71.  Back to cited text no. 3
De Maria B, Mazzanti L, Roche N, Hennekam RC. Barber-Say syndrome and ablepharon-macrostomia syndrome: An overview. Am J Med Genet A 2016;170:1989-2001.  Back to cited text no. 4
Barber N, Say B, Bell RF, Mervielle OC. Macrostomia, ectropion, atrophic skin, hypertrichosis and growth retardation. Syndr Indentif 1982;8:6-9.  Back to cited text no. 5
David A, Gordeeff A, Badoual J, Delaire J. Macrostomia, ectropion, atrophic skin, hypertrichosis: Another observation. Am J Med Genet 1991;39:112-5.  Back to cited text no. 6
Martínez Santana S, Pérez Alvarez F, Frías JL, Martínez-Frías ML. Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): Report of a new case. Am J Med Genet 1993;47:20-3.  Back to cited text no. 7
Mazzanti L, Bergamaschi R, Neri I, Perri A, Patrizi A, Cacciari E, et al. Barber-Say syndrome: Report of a new case. Am J Med Genet 1998;78:188-91.  Back to cited text no. 8
Dinulos MB, Pagon RA. Autosomal dominant inheritance of Barber-Say syndrome. Am J Med Genet 1999;86:54-6.  Back to cited text no. 9
Cortés FM, Troncoso LA, Alliende AR, Curotto BL. Barber-Say syndrome: Further delineation of the clinical spectrum. Genet Mol Biol 2000;23:261-4.  Back to cited text no. 10
Tenea D, Jacyk WK. What syndrome is this? Barber-Say syndrome. Pediatr Dermatol 2006;23:183-4.  Back to cited text no. 11
Haensel J, Kohlschmidt N, Pitz S, Keilmann A, Zenker M, Ullmann R, et al. Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder. Am J Med Genet A 2009;149A: 2236-40.  Back to cited text no. 12
Roche N, Houtmeyers P, Janssens S, Blondeel P. Barber-Say syndrome in a father and daughter. Am J Med Genet A 2010;152A: 2563-8.  Back to cited text no. 13
Martins F, Ortega KL, Hiraoka C, Ricardo P, Magalhães M. Oral and dental abnormalities in Barber-Say syndrome. Am J Med Genet A 2010;152A: 2569-73.  Back to cited text no. 14
Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, et al. Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and Barber-Say syndromes. Am J Hum Genet 2015;97:99-110.  Back to cited text no. 15
Singh A, Schanze D, Agarwal N, Prasad R, Mishra OP, Singh R, et al. Transmission of Barber-Say syndrome from a mosaic father to his child in an Indian family. Clin Dysmorphol 2016;25:181-5.  Back to cited text no. 16
Yohannan MD, Hilgeman J, Allsbrook K. Barber-Say syndrome: A confirmed case of TWIST2 gene mutation. Clin Case Rep 2017;5:1167-9.  Back to cited text no. 17


  [Figure 1], [Figure 2], [Figure 3]

  [Table 1]


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