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If a female is operating on her carrier X she will show symptoms. In about 70 percent of cases, carriers of hypohidrotic ectodermal dysplasia experience some features of the condition. These signs and symptoms are usually mild and include a few missing or abnormal teeth, sparse hair, and some problems with sweat gland function.
[1] [2] There are over 200 different syndromes classified under ED, each with a range of symptoms and genetic causes. [3] The most common type is Hypohidrotic Ectodermal Dysplasia (HED), which affects approximately 1 in every 5,000 to 10,000 live births. HED primarily affects males because it is typically inherited through the X chromosome. [2] [3]
Individuals with this condition typically exhibit a milder version of the symptoms that patients with another type of ectodermal dysplasia would display, these include: [1] [2] Sparse to no hair throughout the body (hypotrichosis/atrichia) Dysplastic (malformed), hypoplastic (underdeveloped), or aplastic (missing) teeth
In instances where the cause is known, treatment should be directed at the primary pathology. In autoimmune diseases, such as Sjögren syndrome and systemic sclerosis, treatment of the underlying disease using immunosuppressive drugs may lead to improvement in hypohidrosis. In neurological diseases, the primary pathology is often irreversible.
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Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome: This condition is inherited in an autosomal recessive manner: Specialty: Dermatology: Symptoms: sparse hair, abnormal dentition and hypohidrosis: Usual onset: Presents in early childhood with progressive respiratory decline and eventual failure: Treatment
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