- AEC syndrome
- Hay Wells syndrome
- Rapp Hodgkin syndrome is now considered a part of the disorder spectrum.
The clinical findings of AEC syndrome can overlap with those of other ectodermal dysplasia syndromes and are variable in presentation. This complicates diagnosis and further characterization of these disorders.
AEC Syndrome is a Rare Genetic Condition Characterized by
- Missing (hypodontia)
- Conical shaped teeth
- A reduced ability to sweat (hypohidrosis)
- Fragile skin
- Chronic, recurrent erosions on the scalp, palms, and soles
Scalp erosions can be complicated by life-threatening infections in infancy which often heal with atrophic/cribiform scarring. The congenital erythroderma in AEC may mimic epidermolysis bullosa (EB) or a collodian baby (skin that resembles a yellow, tight and shiny film) or dried collodion (sausage skin)
- Sparse, fine hair (hypotrichosis)
- Can be brittle, coarse or wiry with pili torti
- Patchy alopecia (lack of hair)
- Eyebrows, eyelashes and body hair may also be sparse or absent.
- Eyelid fusion (ankyloblepharon)
- Corneal erosions
- Blepharitis (chronic inflammation of the eyelid)
- Conjunctivitis(pink eye, is inflammation of the outermost layer of the white part of the eye)
- absence of lacrimal and meibomian glands
- External portion of the ear (auricles) are cup shaped
- Small superior pinna (the visible part of the ear that resides outside of the head)
- Tortuous external canals (twisted)
- Recurrent ear infections (otitis media)
- Secondary conductive hearing loss
- Cleft lip and/or palate
- Lacrimal duct atresia missing or sparse (orifice or passage in the body is [usually abnormally] closed or absent)
- Missing or sparse eyelashes/eyebrows, and misaligned eyebrows.
- Extra (supernumerary) nipples
- Fused fingers and toes (syndactyly)
- Urethra in the male where the urinary opening is not at the usual location on the head of the penis (hypospadias)
A physician can diagnose AEC on the basis of physical features. Symptoms to look for in newborns:
- Cleft lip and/or palate
- Denuded skin/skin erosions
- Might include intolerance to heat. May be irritable in warm environments or may have unexplained fevers.
Causes of AEC Syndrome
- AEC syndrome is caused by mutations in the TP63 gene.
- A parent may pass the mutated gene to a child. The gene can also be mutated in a child without either parent having the mutant gene.
Testing is available for AEC syndrome.
AEC is inherited as an autosomal dominant disorder. An affected individual has a 50% change of passing the gene to a son or daughter.
Learn more about AEC syndrome at Online Mendelian Inheritance in Man.Read about AEC research
Listen to Amelia and Maggie talk about their experience with AEC syndrome.