Congenital Hypertrichosis Lanuginosa

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Updated: Oct 03, 2016
  • Author: Sarah K Taylor, MD; Chief Editor: William D James, MD  more...
Overview

Background

For hundreds of years, societies have maintained a certain fascination with the bizarre and the unknown. In the past, persons with congenital disorders that cause excessive body-hair growth have been so dramatized and romanticized that individuals with rare hypertrichosis syndromes became crowd-drawing money-making phenomena in many 19th century sideshow acts. Most famously, Fedor Jeftichew, aka Jojo the Dog-faced boy, was exhibited by PT Barnum in the United States in the 1800s.

These individuals have been referred to as dog-men, hair-men, human Skye terriers, ape-men, werewolves, and Homo sylvestris. [1, 2] Since the Middle Ages, approximately 50 individuals with congenital hypertrichosis have been described, and, according to the most recent estimates, approximately 34 cases are documented adequately and definitively in the literature. [3, 4, 5]

Disorders of hypertrichosis are distinguished by the distribution of hair, as well as by the temporal pattern of growth, the possible associated congenital anomalies, and the possible inheritance pattern.

Congenital hypertrichosis lanuginosa (CHL) has been referred to variably as congenital hypertrichosis universalis, hypertrichosis universalis, hypertrichosis lanuginosa, and hypertrichosis lanuginosa universalis. The lack of definitive terminology can be confusing and may make the distinction of the related but unique hypertrichosis syndromes difficult. [1, 2, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21] Several solitary case reports describing hypertrichosis resembling congenital hypertrichosis lanuginosa in association with other physical findings may, in fact, represent variants in a spectrum of the disorder.

An X-linked syndrome of hypertrichosis associated with gingival hyperplasia has been described. The abnormally excessive body hair that these patients develop is of the terminal type, and this disorder will not be greatly discussed. However, the X-linked syndrome of hypertrichosis associated with gingival hyperplasia is often confused with congenital hypertrichosis lanuginosa. Of interest, Julia Pastrana (1834-1860), one of the most famous persons with generalized hypertrichosis, was long thought to have congenital hypertrichosis lanuginosa. After her death, her hairs were found to actually be terminal in nature, indicating that she likely had hypertrichosis with gingival hyperplasia and not congenital hypertrichosis lanuginosa. This illustrates the need to accurately determine the type of excess hair present on a given patient.

In addition, the localized hypertrichoses, including primary hypertrichosis cubiti (hypertrichosis of both elbows), primary cervical hypertrichosis, and primary faun tail deformity, are not addressed in this article. [22] These forms represent limited types of hypertrichosis that may be associated with underlying bone and neurologic abnormalities. Hence, they can be distinguished from congenital hypertrichosis lanuginosa on the basis of their clinical presentations.

In 1648, Aldrovandus first documented a family with hypertrichosis. Originally from the Canary Islands, Petrus Gonzales was brought to France as a curiosity for the nobles. He, his 2 daughters, a son, and a grandchild were affected. This kindred was dubbed the Family of Ambras after a castle near Innsbruck where their portraits were discovered. Over the next 300 years, more than 50 similar-appearing cases were described, and 34 patients with presumed congenital hypertrichosis were identified. In 1873, Virchow described an edentate form; in 1876, Bartles added the descriptor "universalis;" and, in 1890, Chiari called the syndrome "hypertrichosis of the dog-men."

Family of Petrus Gonzales, who lived in the 16th c Family of Petrus Gonzales, who lived in the 16th century.

The hairy family of Burma has a 4-generation pedigree of congenital hypertrichosis lanuginosa dating back to 1826. Earlier generations were in the employ of the Ava court, but later generations often earned a living as sideshow attractions in the 1880s.

In 1993, Baumeister et al noted that 9 of these 34 patients with hypertrichosis had a distinctive clinical presentation. [3] The term Ambras syndrome was coined, and subsequent genetic analyses in 2 patients have revealed an association with a paracentric inversion of band 8q22.

Patients in well-documented cases of Ambras syndro Patients in well-documented cases of Ambras syndrome. (A) Daughter of Petrus Gonzales. (B) Grandson of Schwe Maong. (C) Adrrian Jepticheff. (D) Fedor.
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Pathophysiology

Two types of excessive hair disorders exist and must be distinguished.

Hypertrichosis is non–androgen-related pattern of excessive hair growth that may involve vellus, terminal, or lanugo type hair. Hypertrichosis can accompany certain genetic syndromes, or it can be induced secondarily by exogenous medications, most notably phenytoin, minoxidil, cyclosporine, diazoxide, corticosteroids, phenytoin (Dilantin), streptomycin, hexachlorobenzene, penicillamine, heavy metals, sodium tetradecyl sulfate, acetazolamide, and interferon.

The hypertrichosis seen in Ambras syndrome is believed to result either from an increase in the number of hairs in anagen or from an increased number of follicular units, although no one knows for certain. [23]

Alternatively, hirsutism commonly occurs in women and presents as androgen-induced male-pattern hair growth of the terminal type. [24, 25, 26] Hirsutism may have a congenital or exogenous origin. More common causes of hirsutism include polycystic ovary syndrome (PCOS), idiopathic hirsutism, hyperprolactinemia, hyperthecosis, and medications (eg, danazol, androgenic oral contraceptives). Less common causes of hirsutism include congenital adrenal hyperplasia, ovarian tumors, Sertoli-Leydig cell tumors, granulosa–thecal cell tumors, other tumors that stimulate the ovarian stroma, adrenal tumors, Cushing disease, tumors of the adrenal cortex, and severe insulin-resistance syndromes.

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Epidemiology

Frequency

Congenital hypertrichosis lanuginosa and Ambras syndrome are extremely rare. Fewer than 50 cases are documented worldwide. [2, 3, 27, 28] The incidence of congenital hypertrichosis lanuginosa is unknown; however, reported incidence ranges from 1 in a billion to 1 in 10 billion. [6, 20, 29, 30]

Congenital hypertrichosis lanuginosa and Ambras syndrome have no geographic predilection.

Race

No racial predilection is recognized.

Sex

No sex predilection is known.

Age

In both congenital hypertrichosis lanuginosa and Ambras syndrome, excessive hair is apparent at birth.

Patients with congenital hypertrichosis lanuginosa have growth of the lanugo hair, which increases in length and extent of involvement from birth to approximately age 2 years (range, 1-8 y). As a result, the density, length, and extent of involvement may decrease; the rate of hair growth also slows. Many individuals with congenital hypertrichosis lanuginosa lose most, if not all, of their lanugo hair over time, and eventually, only limited areas of hypertrichosis may be present. Occasionally, the lanugo hair may be totally lost by the time the patient becomes an adult. A variant in which patients do not lose their lanugo hair over time is called congenital hypertrichosis universalis or persistent hypertrichosis universalis. [31]

Individuals with Ambras syndrome are classically described as having hypertrichosis at birth; however, the quantity of the excessive hair may be limited at that time. Unlike congenital hypertrichosis lanuginosa, Ambras syndrome may show increased hair growth in both distribution and density as the patient ages, and the hair does not spontaneously involute.

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Prognosis

In congenital hypertrichosis lanuginosa, hair growth occurs until an average patient age of 2 years. Afterward, hair regresses during adolescence. [21]

In Ambras syndrome, patients are described as having increased hair growth throughout their lifetime.

Congenital hypertrichosis lanuginosa is not associated with an increased mortality rate. No documented long-term medical or physical morbidities are associated with congenital hypertrichosis lanuginosa. Psychological sequelae may occur because of the presence of excessive hair growth and the maintenance involved with removing the unwanted hair.

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Patient Education

Patients should be aware that hypertrichosis may have a genetic component, and therefore may be inherited by subsequent generations.

Patients should be aware that the genetic basis for congenital hypertrichosis lanuginosa has not been identified, but the overall health of individuals with hypertrichosis is good.

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