Ectodermal dysplasia (ED) is a rare disorder that appears differently in clinical cases and can present with a variety of combinations and severities of abnormalities that can involve a variety of tissues. The disease might appear clinically as hypotrichosis, hypohidrosis, or hypodontia, among other clinical manifestations. The patient, a five-year-old boy, was seen at the Taibah University Dental Clinic and was diagnosed with X-linked hypohidrotic ectodermal dysplasia type 1 based on clinical radiographic and genetic findings. Although there is no base data for reporting this case, the present case presentation could alert dental practitioners and expand scientific database knowledge on the dental and/or oral characteristics of this abnormality.

Ectodermal dysplasia represents a group of inherited conditions in which two or more ectodermally derived anatomical structures fail to develop resulting in most notably anhidrosis/hypohidrosis, hypotrichosis and hypodontia. It is a xlinked recessive disorder with male predominance. We report a classical case in a 17-year-old male with emphasis on review of literature and latest updates.

Ectodermal dysplasia are group of inherited disorders involving the developmental defects of ectodermal structures like hair, teeth, nails, sweat glands, and others. X-linked recessive inheritance is most common. Here we describe perinatal autopsy findings in a case of de novo ectodermal dysplasia in a female fetus. To the best of our knowledge, this is the first fetal autopsy description in a case of ectodermal dysplasia.

Ectodermal dysplasia is a rare disorder. Christ-Siemens-Touraine syndrome (Hypohidrotic Ectodermal dysplasia (HED)) is a diffuse, non-progressive disease present at birth and involves at least two tissues of ectodermal origin. It is caused by mutation in gene ectodysplasin (EDA, EDA1) located at Xq12-13. Main clinical feature of HED is sparse or absent eccrine gland as well as hypotrichosis, nail, and teeth abnormality with characteristic faces. The absence or diminished activity of sweat gland results in patients having more chances of developing hyperthermia and with intolerance to warm environment. Most do well with simple measures such as wet clothes, air conditioning, wet bands etc. We present cases of two brothers, born of non-consanguineous marriage, who presented to us with complaints of heat intolerance and abnormal facial features.

ECTODERMAL DYSPLASIA (ED) IS A RARE DISORDER WITH DEFECTS IN TWO OR MORE OF THE FOLLOWING STRUCTURES: the teeth and the skin and its appendages including hair, nails, eccrine, and sebaceous glands. Dental manifestations include hypodontia, complete anodontia or malformed teeth. The most common form of the ED syndrome is hypohidrotic ED and is usually inherited as an X-linked recessive trait. Female carriers may have a variable degree of clinical manifestations. The condition is thought to occur in approximately 1 in every 100,000 live births. Dental treatment for these patients varies on an individual basis. Children with ED are often treated dentally with conventional adult appearing prosthesis which are focused only on the oral manifestations of the syndrome. We are here reporting two classical cases of hypohidrotic ED with a review of the literature.