Congenital Hypertrichosis Research Articles

Congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia (Cant� syndrome): A new case with unusual radiological findings

We report on a new case of a syndrome first described by Cantú et al. [1982: Hum Genet 60:36-41] comprising congenital hypertrichosis, "coarse" facial appearance, and mild osteochondrodysplasia. Our case has some unusual radiological findings, namely proximal and distal megaepiphyses of long bones and advanced bone age.

Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome

Cantú syndrome (hypertrichosis, osteochondrodysplasia, cardiomegaly) is a rare condition, previously reported in 13 patients. We report on two additional patients with this disorder. One of the patients had pulmonary hypertension of unknown cause which was responsive to steroid therapy. She also had unusual, deep plantar creases, not reported previously in Cantú syndrome. Autosomal recessive inheritance has been suggested previously on the basis of sib recurrence in one family and consanguinity in another. We have performed a segregation analysis based on all reported families to date; the data indicate autosomal recessive inheritance is unlikely. A new dominant mutation or microdeletion syndrome are more likely possibilities, sib recurrence possibly representing gonadal mosaicism. Am. J. Med. Genet. 85:395–402, 1999. © 1999 Wiley-Liss, Inc.

Congenital hypertrichosis, cardiomegaly and mild osteochondrodysplasia

We report on a boy with congenital hypertrichosis, cardiomegaly and a mild osteochondrodysplasia, a rare syndrome of which there is only one previous report [Cantú et al., Hum Genet 60:36–41, 1982]. In all, five patients now are known to have this syndrome (2 females, 3 males). As the syndrome has been described in males and females and also in two sibs, inheritance is probably autosomal recessive. © 1996 Wiley-Liss, Inc.

An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis.

We report a family in which a phenotype of acromegaloid facial appearance (AFA) and generalised hypertrichosis terminalis segregates through three generations. Congenital hypertrichosis terminalis and AFA have been previously reported as independent autosomal dominant traits. This is the first report to delineate an autosomal dominant transmission of the combined phenotype.

The hairy family of Burma: a four generation pedigree of congenital hypertrichosis lanuginosa.

A Burmese family with congenital hypertrichosis lanuginosa had an eventful history in the nineteenth century. The earlier members of this family were employed at the court of Ava, but the later ones spent their lives in show business, being widely exhibited for money in the 1880s. Their extraordinary hairiness attracted much curiosity, and they were photographed several times. The hairy Burmese are the only example of a four-generation pedigree of congenital hypertrichosis lanuginosa, which is consistent with an autosomal dominant mode of inheritance. There is good evidence that, when the members of this family were hairy, their dentition was also deficient.

Three mildly retarded siblings with congenital cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature: a new syndrome?

We report three male siblings with mild mental retardation, congenital cataract, sensorineural deafness, hypogonadism, hypertrichosis and short stature. This combination has not been previously reported and we suggest this is a new syndrome. Although X-linked recessive inheritance cannot be fully excluded, we favour autosomal recessive inheritance because of parental consanguinity.

Leprechaunism (Donohue's syndrome) described as familial congenital hypertrichosis totalis

Leprechaunism (Donohue's syndrome) described as familial congenital hypertrichosis totalis

Julia Pastrana, the nondescript: an example of congenital, generalized hypertrichosis terminalis with gingival hyperplasia.

Julia Pastrana (1834-1860) has gained immortality as one of the most extreme cases of generalized hypertrichosis upon record. When she was exhibited for money in the United States and Europe during the years 1855-1860, people thronged to see her, and she was several times described in the medical press of the day. After Julia Pastrana's death in childbirth, her corpse was embalmed in a very life-like manner, and exhibited all over Europe for several decades. Later, the mummy was believed to be lost, but in 1990 it was discovered at the Oslo Forensic Institute. Some writers have included Julia Pastrana among the cases of congenital hypertrichosis languinosa. However, a microscopic examination of hair samples from the mummy shows that her hairy growth is unmistakably terminal in character, and we propose that she instead was an example of congenital, generalized hypertrichosis terminalis with associated gingival hyperplasia. While many earlier writers have asserted that Julia Pastrana's dentition was abnormal, a radiographic examination of the mummy has shown that she had a complete permanent dentition.

Familial congenital anterior cervical hypertrichosis associated with peripheral sensory and motor neuropathy—A new syndrome?

We present three patients with familial congenital hypertrichosis localized to the anterior cervical region, associated with peripheral sensory and motor neuropathy. This association may represent a new neurocutaneous syndrome. The association of anterior midline cutaneous lesions with an underlying malformation is discussed.

Congenital hypertrichosis lanuginosa and congenital glaucoma

An infant with congenital hypertrichosis lanuginosa (CHL) and congenital glaucoma is presented. Both conditions are rare and have not been previously reported to occur in association.

Cone-rod congenital amaurosis associated with congenital hypertrichosis: an autosomal recessive condition.

Two female cousins were found to be affected with severe retinal dystrophy characterised by visual impairment from birth and profound photophobia in the absence of night blindness. Minimal fundus changes with a small foveal atrophy in the older cousin and slight macular pigment epithelial changes suggestive of early bull's eye appearance in the younger were detected, indicative of a cone-rod type of congenital amaurosis. This was associated with trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair (including hypertrophied circumareolar hair on the breasts of the older cousin). The mode of inheritance appears to be autosomal recessive.

Hypertrichosis Pinnae in Babies of Diabetic Mothers

Congenital hypertrichosis of external ears is commonly seen among some populace of Pacific Islands and babies with XYY syndrome. However, we have observed this condition among most of our babies born of diabetic mothers (Figure). In all of the textbooks of pediatrics and endocrinology, the physical characteristics of these infants are described as follows: "Large and plump babies with increased body See Images in the PDF File fat and enlarged viscera with puffy, plethoric facies resembling those of patients who have been receiving corticotropin or a corticosteroid (cushingoid or tomato facies)."

Congenital Hypertrichosis Lanuginosa

Congenital hypertrichosis lanuginosa is a rare familial disorder, characterized by generalized hairiness. Excessive hair appeared in a boy during early infancy. By the age of 4 years, the face, trunk, and limbs were covered with long hair, and only the mucous membranes and the palms and soles were spared. In distinction to previously reported cases, his teeth were normal.

Congenital hypertrichosis lanuginosa

Congenital hypertrichosis lanuginosa is a rare familial disorder, characterized by generalized hairiness. Excessive hair appeared in a boy during early infancy. By the age of 4 years, the face, trunk, and limbs were covered with long hair, and only the mucous membranes and the palms and soles were spared. In distinction to previously reported cases, his teeth were normal.

Localized acquired hypertrichosis.

SINCE we have but meager knowledge of the factors influencing the growth of hair, and although the failure of hair growth creates greater popular interest, examples of hypertrichosis from any cause should be recorded in order to enhance our general information on the hair problem. With this in mind we are presenting a series of 13 patients in whom striking acquired localized hypertrichosis occurred as a result of prolonged, frequently repeated self-biting in the mentally deficient. Hypertrichosis, excessive or abnormal growth of hair from any cause, may have local or general distribution and may be congenital or acquired. The most celebrated of the congenital hypertrichoses is the Russian dog-faced boy who was described by Jackson 1 in 1886. In this congenital type the affected person is born with generalized hypertrichosis. The excessive hair continues to grow after birth and increases in length and coarseness. Partial congenital hypertrichosis is fairly