Reconstructive Surgery for Barber Say Syndrome

Introduction

Barber Say syndrome (BSS) is a rare genetic disorder characterized by macrostomia (mouth is large), hypertrichosis (excessive hair growth), atrophic skin (papery thin, and fragile skin), and ectropion (outward-turned eyelids). The condition can be either mild or severe. The symptoms first appear in newborns. The condition mainly affects external characteristics (like facial appearances), while internal organs are typically unaffected. The first reported case was in 1982, and only approximately 20 cases have been reported. Pediatrician Dr. Nancy D Barber published the first case.

What Are the Symptoms of Barber Say Syndrome?

Symptoms can be mild or severe and vary from person to person. Some may have all of the symptoms, while others may have few.

The common symptoms are:

• It is a malformation syndrome characterized by facial abnormality.

• A widened mouth increases the distance between oral commissures.

• Widened nasal bridge or increased breadth of the nasal bridge.

• Upturned nasal tip.

• Globular-shaped bulbous nose.

• Increased interpupillary distance (hypertelorism).

• Ectropion (eyelid turned outward).

• Underdeveloped eyebrow or absence of eyebrow.

• Underdeveloped skin.

• Sagging of skin and loss of skin elasticity.

• Impairment in hearing.

• Delayed tooth eruption.

• Absence of eyelashes.

• The physical growth of the child is lower than normal.

• Increased hair growth over the entire body (hirsutism).

Other less associated symptoms include:

• Absence of breasts.

• Underdeveloped nipples.

• Stretchable skin.

• Eyelids may be absent.

• External ear abnormality.

• Shawl scrotum (scrotum surrounds the penis).

• Highly arched or cleft palate.

• Conductive hearing loss in some.

What Causes Barber Say Syndrome?

BSS is a genetic disorder caused due to heterozygous mutation in the TWIST2 gene located in the 2q37.3 chromosome, and it codes for a protein that acts as a negative transcription regulator. This gene encodes a protein that acts at the epigenetic level. The condition has an autosomal dominant type of inheritance, though autosomal recessive traits are seen in some cases. It is a congenital malformation syndrome with abnormalities in ectoderm-derived structures.

It is a form of ectodermal dysplasia with neonatal onset. Ectodermal dysplasias are primarily developmental defects that affect two or more tissues that originate from the embryonic ectoderm. Skin and its appendages (like hair follicles, sebaceous glands, sweat glands, and nails) are primarily affected. However, other tissues like eyes, ears and mucous membranes of the mouth and nose may also be affected. The prevalence of the condition is less than 1 in 10 lakhs.

How Is Barber Say Syndrome Diagnosed?

Diagnosis is based on physical examination. The patient presents with characteristic symptoms like facial abnormalities, hypertrichosis (increased hair growth), sagging of skin, ectropion (eyelid turned out), and other symptoms. As the condition is genetic, the doctor will ask for familial history related to the condition. Diagnosis is confirmed by molecular DNA analysis, which identifies a heterozygous mutation in the TWIST2 gene.

How Is the Condition Treated?

The condition is a genetic malformation syndrome that cannot be cured permanently. As the syndrome affects only the external characteristics, the same is corrected. The condition is not found to affect internal organs or cognitive development.

• The treatment approach varies from patient to patient, depending on the severity of the condition. Reconstructive surgeries are performed by surgeons from oculoplastic, otolaryngology, dermatology, and oral maxillofacial services.

• Bilateral placement of one gram gold weights in upper eyelids reduces lagophthalmos (abnormal eyelid closure). Incisions are placed to form proper eyelid creases.

• Gold weights are used in the upper eyelid and midfacial suspenders for lower eyelid correction.

• Manual palpebral closure and continuous lubrication are done.

• A delay in palpebral reconstruction will damage the corneal surface and impair the development of visual acuity.

• Lateral tarsorrhaphy (a procedure mainly done for corneal protection and involves joining upper and lower eyelids to cover the eye either fully or partially) is done. Lateral tarsorrhaphy is done with an absorbable suture to avoid keratopathy (corneal damage due to exposure) and to achieve corneal protection.

• Upper palpebral reconstruction uses skin grafts (mostly from the palm side of the forearm).

• Lower palpebral reconstruction is done using a graft from the retro auricular area.

• After discarding dermatological, vascular, and orthopedic contraindications, a full-thickness graft is obtained from the ventral side of the forearms, retro auricular, and supraclavicular area. The advantage of grafts from this area is they are similar in texture and color to the receiving area and have fewer hair follicles.

• The donor area should be closed using absorbable sutures. Grafts are also sutured using absorbable sutures.

• Temporary bilateral tarsorrhaphy is done with a 4/06 silk suture to avoid retraction.

• Another procedure is canthoplasty (a cosmetic procedure to reshape the canthus, the outer corner of the eye).

• The technique is supplemented with facial lifting and botulinum toxin.

• Palpebral fatty infiltration with the Coleman technique increases the surgical results.

• Photoepilation treatment (hair removal treatment) is done with an alexandrite laser.

• Jaw correction is done by orthognathic surgery, nasal reconstruction by rhinoplasty, lip correction by cheiloplasty, chin correction by genioplasty, and cheek implant (malar implant) is done.

• Correction of cleft palate, if present, is done.

• Breast augmentation is done later (after puberty) in case of aplasia.

• Follow-up visits are done after surgeries.

What Are Other Conditions Similar to Barber Say Syndrome?

Barber say syndrome has phenotypic similarity to Ablepharon macrostomia syndrome(AMS) and Setleis syndrome(SS). But BSS can be differentiated from the two based on clinical characteristics involving ectropion (eyelids turned outward), hypertelorism (increased distance between the pupils), and hypertrichosis (abnormally increased hair growth). These clinical characteristics are specific to BSS. Both BSS and AMS occur due to heterozygous mutation of the TWIST2 gene.

Conclusion

Barber say syndrome is a rare genetic malformation syndrome, with very few cases reported worldwide. The total number of documented cases is less than twenty. Though BSS does not affect cognition and internal organs and affects only external characteristics, it can have a psychological impact due to poor peer acceptance. The quality of life of the affected can greatly be improved with reconstructive surgical options. Life expectancy is also found to be normal in most cases.