A Genetically Hairy Disposition

A Genetically Hairy Disposition

BURMA, 1826, a visitor named John Crawfurd accounted of a man named Shwe-Maong who had been serving as a court entertainer of the king of Ava, a province of Burma, since he was given to the king at age five. Shwe-Maong's face and body was covered in thick hair giving him a resemblance of a hairy animal. However he was only a man with an extremely rare genetic mutation and the first in a four generation line within his family that would inherit his mutation. His daughter, grandson, and great granddaughter would all inherit his disorder and would infamously become known as the "The Hairy Family of Burma." The family fascinated people from all over the world who would come to see them. (2)

"The Hairy Family of Burma," actually suffered from an extremely rare genetic mutation referred to generally as Congenital Hypertrichosis (CH). Hypertrichosis, as defined by the Encyclopedia Britannica Online, is "excessive, abnormal hairiness that may be localized or cover the entire body..." Because of its extreme rarity and slightly varied possible sub classifications(7), scientists throughout the years have referred to Congenital Hypertrichosis by many names, all of which can mostly be used interchangeably and have similar meanings. For example, terminology has included: Hypertrichosis Universalis, Hypertrichosis Lanuginosa, Hypertrichosis Universalis Lanuginosa, Congenital Hypertrichosis Terminalis congenital generalized Hypertrichosis and Ambras Syndrome among others.

History of CH: Past and Present

The first recorded case of CH is believed to be that of Petrus Gonzales. Gonzales was born in the Canary Islands in 1556. Out of curiosity, Petrus was brought to France where he was presented as a gift to the nobles. Once it was realized Petrus was a bright young mind, he was educated and learned multiple classic and contemporary languages. He produced 2 daughters and a son all of whom were affected, even one grandchild was affected. (8) Eventually, they were known as the family of Ambras, from which the name Ambras Syndrome, the most studied subclass of CH, was taken. The Ambras name was given because the family portraits were discovered in Ambras castle amongst an art collection started by the archduke Ferdinand II (1529-1595). Although Gonzales was born in the Canary Islands and lived in France, the Ambras castle is in modern-day Austria. Today, the same paintings hang in the Kunsthistorisches museum in Vienna. (7) Over the past 300 years, more than 50 similar appearing cases have been described, and 34 patients with presumed Congenital Hypertrichosis have been adequately identified including the "The Hairy Family of Burma". (8)

During the 19th and 20th centuries individuals with Congenital Hypertrichosis conditions have been documented to have worked in side shows and in circus acts for entertainment purposes becoming money making phenomena. These people would be called "werewolves," "ape-men," "dog-boy," "human Skye terriers," "Homo silvestris," or man from the woods, and most notably "the bearded lady," among others. (1, 4) People with Hypertrichosis have been stigmatized throughout history, and they are thought to be the source of the werewolf legend. (1) It has even been dubbed "Werewolf syndrome" by the media.

Most of the people recently featured in the media and on television with CH are from the Aceves clan of Loreto, Zacatecas, Mexico, some of whom have immigrated to the United States. Many of them have worked for circuses. The brothers Victor Ramon "Danny" Ramos and Gabriel "Larry" Ramos have worked as acrobats. Their cousins, Jesus "Chuy" Aceves, and his sister, Lili, have worked in sideshowsin Mexico (1). Some of the boys and men in the family work mightily to get rid of their excess hair, shaving every part of their face every day, sometimes repeatedly.

Possibly the most famous of the hairy "human curiosities" was Julia Pastrana, a Mexican Indian born in the 1830's who had long, thick, glossy and straight black hair covering most of her body, as well as overdevelopment of the jaw and an unusually broad, flattened nose. Scientists have tentatively diagnosed Pastrana's condition as "generalized hypertrichosis terminalis with gingival hyperplasia," (1)

Pathophysiology

As mentioned, Congenital Hypertrichosis has been referred to by various terms some of which are dependent on the specific phenotype present. The terminology has not always been consistent due to the sheer lack of modern case studies. However, all forms of CH are characterized by abnormal amounts and types of hair covering the patient's body. In fact, patients can be even hairier than chimpanzees or gorillas, which lack fur around the cheeks, nose and eyes. (1) Generally, CH conditions can have varied degrees of hair thickness, color, amount, and affected areas. Nearly all the skin of the human body except palms of hands and soles of feet are covered with hair. The density of the hair, thickness of the hair, color of the hair, speed of hair growth, and qualities such as kinkiness, vary from one part of the body to another and from one person to another. (1)

The diagnosis of CH is made on the basis of hair pattern, analysis of hair type by histology, genetic analysis, and absence of endocrinologic abnormality. In addition, various levels of dysmorphisms may be present. Analysis of hair type histology is critical to determine if the type of Hypertrichosis represents either vellus or lanuginosa hair. (7)

A variety of dysmorphisms have been recorded throughout history, most involving the head. Some recorded examples are, a dysmorphic triangular coarse face, broad intercantha, broad palpebral fissures, long nose with round tip, broad interalar distance, anteverted nares, short integumental lower lip, and flat sulcus mentolabialis. Occasional patients have hexadactyly and supranumery nipples. Other facial anomalies and abnormalities including retarded first and second dentition, and absence of teeth. (7) Given the rarity of patients with CH variations, there may be other complications that have not been reported because of diagnostic and technical limitations.

In the family reported by Tadin-Strapps et al. (2003), dental anomalies of those affected became evident around the age of 4 years. These primarily affected the shape of the teeth, which appeared misshapen and mispositioned. Tooth eruption was not delayed and there were no missing teeth. Notably, gingival fibromatosis seen in other forms of Hypertrichosis was not present in the affected individuals. (5)

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