Barber-Say syndrome is a rare inherited disorder with increased hairiness and striking facial physiognomy. To date, only ten cases have been documented since it was first described, so research into the syndrome is in its infancy. Neither the heredity nor the cause of the disease is known in detail so far.
What is Barber-Say syndrome?
N. Barber and his associates first described a disorder called Barber-Say syndrome in 1982. The disease has been documented in only ten patients since its initial description. Estimates place the incidence for the syndrome at less than one case per 1,000,000 people. Barber-Say syndrome is thought to be a disease with a hereditary basis. The exact mode of inheritance is unknown, but autosomal dominant inheritance is suspected. The clinical picture is mainly characterized by hypertrichosis, which goes far beyond normal hairiness. In combination with this, there is usually atrophy of the skin, which makes the affected person appear emaciated and haggard. In addition, malpositioning of the eyelid and excessively wide mouthparts are often observed. Because of the small number of documented cases, Barber-Say syndrome is far from being conclusively researched. In particular, causal research has been in its infancy, as the few documented cases do not provide a sound basis for a more in-depth etiology.
Causes
Research to date suggests a hereditary basis for Barber-Say syndrome. In one case, the symptom complex was previously documented to be transmitted from mother to son. In the case thus documented, the mother also had cleft palate and conductive hearing loss. Thus, theoretically, the above case may have been a completely different syndrome. Research to date has not established whether the syndrome is based on an autosomal recessive, autosomal dominant or X-linked dominant mode of inheritance. A link to the equally rare Ablepharon macrostomy syndrome is speculated about in current medicine. The two syndromes do not appear to be from the same group, but they do appear to involve the same gene despite their dissimilarity. Presumably, the two disorders are different mutations of the same gene. However, nothing more is known about the gene locus, even in the case of the ablepharon macrostomy syndrome.
Symptoms, complaints, and signs
Barber-Say syndrome manifests primarily as congenital generalized hypertrichosis. The extreme hairiness of patients is usually noticeable immediately after birth. The same applies to the conspicuous face of those affected, which catches the eye due to a broad nasal root, an anteverted nares and particularly thin lips. Despite the otherwise extreme hairiness, the patients lack eyebrows or are at least less pronounced. The eyelids are affected by malposition or are missing completely. In addition, hypertelorism or telecanthus is often present. The same applies to malformed ears and overstretched or excess skin. Hypoplasia of the nipples may also be present. Complete absence of mammary glands is an equally conceivable symptom. In addition, tooth eruption is often delayed in patients with Barber-Say syndrome. Presumably, other symptoms may be added in individual cases, which could not be recorded so far because of the small number of documented cases.
Diagnosis and course
Diagnosis of Barber-Say syndrome can be difficult. Because no specific gene has been blamed for the syndrome to date, molecular genetic testing of patients runs into nothing. At best, the physician makes the diagnosis by eye, since he lacks tangible diagnostic criteria. Differential diagnosis and differentiation from the equally rare Ablepharon macrostomy syndrome is also a difficult undertaking. Neither for Barber-Say syndrome nor for Ablepharon macrostomy syndrome has the etiology been conclusively clarified or narrowed down to a specific gene locus. The distinction between the two syndromes is predominantly determined by the lesser genital abnormalities in Barber-Say syndrome. To date, medical science has assumed a rather favorable disease course for Barber-Say syndrome.
Complications
The clinical hallmarks of Barber-Say syndrome are increased hairiness and prominent facial physiognomy.The patients’ hairiness goes far beyond the normal hairiness of healthy people, while the eyebrows are absent or less pronounced. The eyelids show a malposition or are missing completely. An enlarged distance marks the eyes or the inner corners of the eyes. The mouth and nose area are unusually broad. The same conspicuous features apply to malformed ears. In addition, there is a loss of skin tissue, which makes the patient look emaciated and haggard. In some affected individuals, tooth eruption is delayed. Since Barber-Say syndrome has only been documented ten times worldwide, medical science is far from individualized therapeutic approaches. Although the life expectancy of the patients is not necessarily limited, a high psychological suffering pressure is added to the physiological complications. Various cosmetic treatments as well as invasive procedures to remove excessive hair and conspicuous deformities are conceivable. Drug therapy is also possible. However, in these cases there are often side effects that cause additional complications. The prognosis for complete cure is negative, because the conspicuous symptoms and accompanying symptoms of Barber-Say syndrome cannot be completely eliminated. To alleviate the psychosomatic complications, treatment by a psychotherapist is conceivable.
When should you see a doctor?
Because Barber-Say syndrome is an extremely rare inherited disorder, medical diagnosis proves difficult. Typical symptoms such as the extreme hairiness and striking face of patients are usually noticed immediately after birth. Signs such as a broad nasal bridge, missing eyebrows or particularly thin lips give cause for further examination. The clinical picture usually automatically leads to a routine physical diagnosis. However, due to the small number of cases, a specific diagnosis of the syndrome is usually not possible. However, physical characteristics in the parents – in one documented case, a cleft palate was found – as well as possible concomitant diseases can provide the decisive clue to the diagnosis of Barber-Say syndrome. Parents with pre-existing genetic conditions or cases of hereditary diseases in their extended family should address this during prenatal counseling and related medical examinations. This allows the child to be screened and tested for possible genetic conditions such as Barber-Say syndrome before birth.
Treatment and therapy
The etiology of Barber-Say syndrome remains a mystery. For this reason, medical science is currently far from a causative treatment for the disorder. As is the case for Ablepharon macrostomy syndrome, only symptomatic treatment modalities can be considered. Treatment usually consists of primarily reconstructive surgical procedures. Reconstruction in Barber-Say syndrome is usually limited to the patient’s eyelids and ears. If necessary, hypoplasia of the nipples can also be treated surgically. The conspicuously wide nose can also be corrected by surgical intervention if necessary. However, patients do not necessarily have to have the nose treated if they are not bothered by the width. In general, there are more severe deformities and abnormalities in Ablepharon macrostomy syndrome than in Barber-Say syndrome. Different therapeutic approaches are available against the severe hairiness of Barber-Say syndrome. In addition to external treatments using cosmetic and beauty medicine methods, drug treatments are also conceivable, although these are only recommended to sufferers in cases of high levels of suffering due to the side effects. Cosmetic procedures such as waxing or other methods such as laser treatment are generally gentler than permanent medication and are associated with significantly fewer side effects. Especially during puberty, patients may face psychological challenges if necessary. If this is the case, contacting a psychotherapist in a timely manner will ideally prevent the sufferer from social withdrawal.
Outlook and prognosis
Based on current medical and scientific evidence, the prognosis of Barber-Say syndrome is considered unfavorable. Although the patient’s life expectancy is not diminished, there is no cure for the disease. The genetic disease can be treated symptomatically.However, causal therapy is not possible for the patient. Researchers and scientists are not permitted to exercise any modification of human genetics in the search for therapeutic approaches. As a result, various options are used to try to treat the individual symptoms. In addition to medical care, patients have access to various alternative forms of treatment. The unusual and unwanted hair can be removed for a short time via waxing or targeted shaving. Permanent relief does not occur. Nevertheless, the methods can help to improve the patient’s well-being in everyday life. In addition to cosmetic approaches, drug support is provided. This is aimed at further improving health. The goal is to minimize the effects of the visual blemish. Some patients additionally decide to undergo cosmetic surgery. Corrective facial surgery can be performed to achieve a permanent change. When making an overall prognosis, it is important to remember that surgical procedures are subject to the usual risks and side effects of surgery under general anesthesia.
Prevention
The triggers of Barber-Say syndrome are largely unknown. Because so little research base exists for the symptom, the condition cannot be prevented to date. The same is true for the related condition of Ablepharon macrostomy syndrome.
Here’s what you can do yourself
Barber-Say syndrome is extremely rare, and so far there are no conventional medical or alternative cures that work causally. Individuals affected by Barber-Say syndrome usually suffer greatly from their external appearance, which significantly affects their quality of life. Among other things, social interaction is impaired by the extremely strong hair growth all over the body. Third parties are often frightened at the sight of these individuals or consider the affected person to be extremely unkempt. Excessive body hair can, however, be treated by cosmetic means. The easiest way is a thorough daily shave with the help of disposable razors and shaving foam or shaving gel from the drugstore. Disturbing body hair can also be removed with depilatory creams based on potassium or ammonium salts of thioglycolic acid or thiolactic acid. Longer-lasting success can be achieved with methods that involve pulling out the hair along with the root. The most common methods include “waxing” and “sugaring”. In this case, the body hair is removed with the help of wax and sugar, respectively. Such treatments are offered by beauty salons. Since these methods are very painful, they are not suitable for all affected persons and also not for all body regions. Permanent and comparatively gentle, on the other hand, is hair removal with laser. Interested parties can find out more about this from their dermatologist. If, in addition to the strong hairiness, other conspicuous features are present, such as abnormalities in the face, a plastic surgeon should be consulted. Insofar as those affected suffer greatly mentally from their appearance, psychotherapy can be helpful.
