- Congenital absence of some fingers and/or toes (ectrodactyly)
- Cleft lip and/or palate
- Flat nasal tip
Life expectancy of EEC syndrome is normal to slightly reduced. Sweating problems cause the most life-threatening complications, as impaired sweating ability increases the risk of overheating, which can lead to seizures, coma, and death. Those with EEC syndrome who do not have sweating problems can expect to live a normal lifespan.
The majority of patients with EEC syndrome have a favorable outcome if they continue to follow their doctor’s orders. In general, the condition is manageable and they may have a normal IQ. Despite their disabilities, most of them live a long life. Successful social adaptation is critical to long-term success and happiness.
Early detection of EEC syndrome may result in more effective treatment. It is critical to address the physical defects and functional problems, as well as any psychological issues that may arise due to this disorder.
What causes EEC syndrome?
EEC syndrome is a congenital disorder caused by a TP63 gene mutation, which causes several congenital abnormalities. Although these anomalies appear to be diverse, they are all caused by the same underlying defect to the early embryonic ectodermal tissue.
Ectodermal tissue is responsible for the development of limbs, nails, eyes, skin, hair, teeth, kidneys, glands, and face. EEC syndrome affects all of these to varying degrees.
In the United States, 7 out of every 10,000 people have EEC syndrome.
What are symptoms of EEC syndrome?
- Hypodontia (missing teeth)
- Pointed teeth
- Small teeth
- Lightly pigmented skin
- Fair skin
- Hyperkeratosis (thickening of the outermost layer of the epidermis)
- Lightly pigmented, sparse, unruly hair
- Sparse pubic hair
- Sparse axillary hair (underarm)
- Sparse eyebrows
- Sparse eyelash
- Pitted nails (ice pick-like depressions in the nails)
- Abnormally formed (dystrophic)
- Abnormal development of tear ducts, tear glands, and meibomian glands, which can cause:
- Excessive tearing and/or extremely dry eyes
- Inflammation of the eyelids, cornea, and conjunctiva
- Defect in the function of corneal stem cells, which can result in corneal erosion and conjunctival overgrowth
- Photophobia (intolerance to light)
- Conductive hearing loss
- Small ears
- Malformed auricles (outer visible part of the ear)
- Distension and dilation of the renal pelvis
- Internal structures of one or both kidneys do not develop normally
- Missing one or both kidneys
- Ureter and bladder problems
- Hypohidrosis (diminished sweating)
- Intelligence may be normal, although some case may have intellectual disability
How is EEC syndrome diagnosed?
Because of the overlap of symptoms with other ectodermal dysplasia syndromes, the diagnosis of EEC syndrome can be difficult. EEC syndrome is typically diagnosed using a combination of:
What are treatment options for EEC syndrome?
Although there is no cure for EEC syndrome, treatment can alleviate the symptoms. Treatment includes surgery, dental care, prevention of hypohidrosis (abnormal sweating) complications, and other preventative measures.
To treat multi-organ symptoms, management strategies may include::
- Temperature maintenance: Heat exposure and body temperature must be closely monitored. Heat-generating activities in older children must be countered with physical cooling measures such as drinking cold liquids frequently and wearing special cooling vests and caps.
- Teeth: Early dental care may improve the function and appearance of the teeth. Bone grafting or sinus lift procedures, dental implants, and dental prostheses under an orthodontist’s supervision are strongly recommended.
- Hair: Recently, 3% minoxidil has been tried to promote hair growth in patients with EEC syndrome.
- Skin: Emollients are the preferred treatment. Patients with oozing erosions and chronic erosive scalp dermatitis need aggressive wound care and topical and systemic antibiotics.
- Cleft lips and cleft palates: These may require surgery to correct and are usually done in childhood. Cleft palate repair is critical for feeding and speech.
- Hand and foot abnormalities: These can be surgically corrected to improve function, appearance, and shoe fit.
- Limb defects and ocular abnormalities: These require expert consultation as soon as possible.
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ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING SYNDROME: https://www.nfed.org/learn/types/ectrodactyly-ectodermal-dysplasia-clefting-syndrome/
EEC syndrome: https://rarediseases.info.nih.gov/diseases/2076/eec-syndrome
Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate: https://rarediseases.org/rare-diseases/ectrodactyly-ectodermal-dysplasia-cleft-lippalate/
Ectodermal Dysplasia: https://emedicine.medscape.com/article/1110595-overview
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