Ectodermal Dysplasias - Rare Abnormal Development Of Skin Hair Nails Teeth And Sweat Glands

Ectodermal Dysplasias

Ectodermal dysplasia is a hereditary condition characterized by abnormal development of the skin, hair, nails, teeth, and sweat glands.

Ectodermal dysplasia is not a single disorder. It is a group of heritable disorders causing the hair, teeth, nails and glands to develop and function abnormally. More than 100 different ED syndromes have been described by Newton Freire-Maia and Marta Pinheiro in their book, Ectodermal Dysplasias: A Clinical And Genetic Study.

Symptoms

Patients with ectodermal dysplasia may have absent or decreased sweating because of a lack of sweat glands. Children with the disease may have difficulty controlling fevers. Mild illness may produce extremely high fevers, because their skin can't sweat and control temperature properly. Affected adults are unable to tolerate a warm environment and require special measures to maintain a normal body temperature. Patients may have chronic nasal infections with foul-smelling discharge and increased lung infections.

Specific symptoms include: Lower-than-normal number of teeth, Delayed or absent tooth formation, Inability to sweat, Absent tears (occasional), Thin skin, Decreased skin pigment, Foul-smelling nasal discharge, Poor temperature regulation, Heat intolerance, Scanty hair, Absent hair, Abnormal nails, Low nasal bridge

Treatment

There is no specific treatment for this disorder. Improvements in the appearance and in function can be made with the use of wigs in the absence of scalp hair and dentures to replace missing and defective teeth.

Synthetic tears may be necessary to replace normal tearing and prevent drying of the eyes. It may be helpful to spray the nostrils with saline nose spray frequently to remove debris and prevent infection. Affected people require a cooler climate and may require frequent cooling water baths or sprays to maintain a normal body temperature

Prognosis

Brain damage caused by increased body temperature is a possibility when body temperature is not closely watched.