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.
Alopecia, congenital ichthyosis, ectodermal dysplasia, hypotrichosis, ichthyosis follicularis, ichthyosis follicularis with atrichia and photophobia, IFAP syndrome, X-linked recessive inheritance, megacolon.