Dermotrichic syndrome

BACKGROUND

Dermotrichic syndrome is one form of ectodermal dysplasia, which is a group of diseases that affect the outer layer of a developing embryo. This layer, called the embryonic ectoderm, develops into the hair, skin, nails, bones, and teeth. Ectodermal dysplasia causes these tissues to develop abnormally.

As indicated by the name of the disorder, dermotrichic syndrome primarily affects the skin and hair. Symptoms generally include a specific skin condition known as congenital ichthyosis along with lack of hair; short stature; intellectual disability; seizures; and problems with the skeleton, nails, and intestine. Dermotrichic syndrome is very similar to a condition known as ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome. While there is some overlap, these two conditions can be distinguished based on the signs and symptoms.

Dermotrichic syndrome is believed to be inherited, or passed down, among family members, as an X-linked recessive trait. This is partly because the disorder is more common in males than females. However, little is known about the exact cause of the disease. Because of the pattern of inheritance, dermotrichic syndrome is more common in males than females. Females who inherit only one mutated copy of the gene are called "carriers." Female carriers can pass the condition to their children.

Dermotrichic syndrome is extremely rare, with very few cases described in the scientific literature. There is a lack of information on the prevalence of dermotrichic syndrome and long-term prognosis in people with this condition.

RISK FACTORS

Because dermotrichic syndrome appears to be inherited, the only known risk factor is a family history of the condition. Dermotrichic syndrome appears to be more common among males than females. It is not known whether dermotrichic syndrome is more common among certain ethnicities.

CAUSES

Genetic mutations: Although dermotrichic syndrome is believed to be caused by genetic mutations or defects, the exact gene or genes involved in this condition are currently unknown.

X-linked inheritance: Dermotrichic syndrome is believed to be inherited, or passed down, among family members as an X-linked recessive trait. This is partly because the disorder is more common in males than females. X-linked recessive disorders occur when the genetic mutation or defect that causes a condition is located on the X chromosome. Females have two copies of the X chromosome, but males have one X chromosome and one Y chromosome. Males inherit one X chromosome from the mother and one Y chromosome from the father. A male can inherit the defective gene only from the mother. Therefore, if the disorder is X-linked recessive, a female would need to inherit two defective copies of the gene to develop the condition (one from each parent), whereas a male would need to inherit only one defective copy of the gene to develop the condition. Females who inherit only one mutated copy of the gene are called "carriers." Female carriers can pass the gene to their children.

Random occurrence: It is unknown whether dermotrichic syndrome can occur as the result of a spontaneous genetic mutation in individuals with no family history of the disease.

SIGNS AND SYMPTOMS

General: As indicated by the disorder's name, the main symptoms of dermotrichic syndrome affect the skin and hair. The symptoms listed below are based on the limited available reports of dermotrichic syndrome.

Brain: Cases reported in the scientific literature involve individuals with intellectual disabilities. However, there is limited information regarding how severe or limiting the disability is in these cases. Individuals with dermotrichic syndrome also appear to suffer from seizures.

Growth: In the documented cases of dermotrichic syndrome, individuals were of short stature.

Hair: People with dermotrichic syndrome have sparse or absent hair on the scalp and body. Eyebrows and eyelashes may be sparse or absent.

Nails: In documented cases of dermotrichic syndrome, individuals had underdeveloped or poorly developed fingernails and toenails.

Skin: Individuals born with dermotrichic syndrome generally have a specific skin condition known as congenital ichthyosis or follicular ichthyosis. In congenital ichthyosis, babies are born with dry, red, rough skin that is marked by large, rectangular scales. In follicular ichthyosis, this skin condition occurs around hair follicles. In addition, people with dermotrichic syndrome may have a decreased or absent ability to sweat because of a decreased number of sweat glands.

Teeth: Documented cases of dermotrichic syndrome involve individuals who appear to have had defects in the teeth, including poor enamel.

Other: People with this condition may also have skeletal problems, hernias, kidney problems, and a large-intestine problem called megacolon, which is a widening of the colon not caused by any physical blockage.

DIAGNOSIS

Physical exam/medical history: Diagnosis of dermotrichic syndrome is generally made after a complete physical exam. A clinician looks for the characteristic skin disorders, absence of hair, abnormalities of the fingernails and toenails, and short stature. In addition, the clinician will take a detailed family and medical history of the patient, including information about seizures, growth and development, and intellectual abilities.

Biopsy: During a biopsy, a small sample of tissue is removed from the body and analyzed in a lab. A biopsy may be done to examine the skin for the presence of hair follicles, sweat glands, and abnormal cells.

Imaging tests: Imaging studies, such as magnetic resonance imaging (MRI), can help identify skeletal problems and megacolon, the widening of the large intestine seen in dermotrichic syndrome despite the absence of any physical blockage.

Other: Diagnosis of dermotrichic syndrome should rule out the possibility of a similar condition known as ichthyosis follicularis with alopecia and photophobia (IFAP) syndrome. As the name suggests, IFAP syndrome is characterized by a skin condition similar to that seen in dermotrichic syndrome, as well as the absence or loss of hair and sensitivity to light.

COMPLICATIONS

Infection: Because the protective barrier of the skin is not intact in dermotrichic syndrome, bacteria may cause infection.

Skin irritation: Congenital ichthyosis and ichthyosis follicularis may cause discomfort and irritation of the skin.

TREATMENT

General: There is currently very little known about dermotrichic syndrome because of the limited documentation of cases in the scientific literature. There appears to be no cure for dermotrichic syndrome. Treatment would presumably focus on the management of symptoms and the prevention of complications.

Medications: Antibiotics may be prescribed for skin infections. These may be taken by mouth or applied to the skin. Oral vitamin A derivatives known as retinoids (e.g., etretinate and isotretinoin) may reduce the scaling and discomfort associated with ichthyosis. Oral liazarole may also decrease scaling.

INTEGRATIVE THERAPIES

Note: Currently, there is limited scientific evidence on the use of integrative therapies for the treatment or prevention of dermotrichic syndrome. The therapies listed below have been studied for related conditions, should be used only under the supervision of a qualified healthcare provider, and should not be used in replacement of other proven therapies.

Unclear or conflicting scientific evidence:

Evening primrose oil: Early studies do not show a benefit from use of evening primrose oil in ichthyosis. However, larger studies are needed to confirm this result.

Avoid if allergic to plants in the Onagraceae family (e.g., willow's herb and enchanter's nightshade) or gamma-linolenic acid. Avoid with seizure disorders. Use cautiously with psychopharmacological drugs. Stop use two weeks before surgery with anesthesia. Avoid if pregnant or breastfeeding.

PREVENTION

Because dermotrichic syndrome is believed to be inherited, there is currently no known way to prevent the disease. People with a family history of dermotrichic syndrome or a related disorder may benefit from genetic counseling to determine the possible risks of passing such conditions to their children.

AUTHOR INFORMATION

This information has been edited and peer-reviewed by contributors to the Natural Standard Research Collaboration (www.naturalstandard.com).

• Boente MC, Bibas-Bonet H, Coronel AM, et al. Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome? Eur J Derm. 2000;10(2):98-102. View abstract
• Ectodermal Dysplasia Society. www.ectodermaldysplasia.org. Accessed May 29, 2008.
• Martino F, D'Eufemia P, Pergola MS, et al. Child with manifestations of dermotrichic syndrome and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome. Am J Med Genet. 1992;44(2):233-6. View abstract
• Online Mendelian Inheritance in Man. www.ncbi.nlm.nih.gov/omim. Accessed May 29, 2008.