Table 1.
Demographics, clinical presentations, and surgical interventions of 30 pediatric subjects with Ectodermal Dysplasia
| All subtypes (total) | Unspecified ED, hidrotic and hypohidrotic | EEC | AEC | Rapp-Hodgkin ED | Marshall’s syndrome | HED with immunodeficiency | Tricho-dento-osseous syndrome | Oculo-ectodermal syndrome | |
|---|---|---|---|---|---|---|---|---|---|
| Number of subjects | 30 | 12 | 8 | 3 | 2 | 2 | 1 | 1 | 1 |
| Gender (M:F) | 20:10 | 8:4 | 6:2 | 3:0 | 0:2 | 2:0 | 1:0 | 0:1 | 0:1 |
| Age at first visit, years | 4.5 | 5.4 | 3 | 4.4 | 0.5 | 2.7, 0.4 | 3 | 9.5 | 12.5 |
| Genetic variant (n of tests) | EDA1 (6) | TP63 (3) | TP63 (2) | TP63 (2) | COL11-A1 (1) | NEMO (1) | DLX3 & COL1A1 (1) | KRAS (1) | |
| Symptoms (n of subjects, %) | |||||||||
| Tearing/discharge | 14, 47% | 4, 33% | 7, 87% | 1, 33 | 1 | 1 | – | – | – |
| Photophobia | 6, 20% | 2, 17% | 1, 14% | 2, 67% | 1 | – | – | – | – |
| Diagnoses (n of subjects, %) | |||||||||
| Lacrimal disorders | 12, 40% | 2, 17% | 7, 87% | 2, 67% | 1 | – | – | – | – |
| Punctal agenesis | 10, 33% | 2, 17% | 6, 62% | 1, 33% | 1 | – | – | – | – |
| Dry eye | 4, 13% | 1, 8% | 1, 14% | 1, 33% | 1 | – | – | – | – |
| Strabismus | 4, 13% | 1, 8% | – | 1, 33% | – | – | – | – | – |
| Blepharitis | 3, 10% | 1, 8% | 2, 29% | – | – | – | – | – | – |
| With MGD | 2, 6.7% | 1, 8% | 1, 14% | – | – | – | – | – | – |
| Allergic conjunctivitis | 3, 10% | 2, 17% | – | 1, 33% | – | – | – | – | – |
| Distichiasis and trichiasis | 2, 6.7% | – | – | 2, 67% | – | – | – | – | – |
| Cataract | 2, 6.7% | 1, 8% | – | – | – | 1 | – | – | – |
| Ptosis/lash ptosis | 11,37% | 5, 42% | 3, 43% | 2, 67% | – | – | – | – | 1 |
| Isolated lash ptosis | 3, 10% | 2, 17% | 1, 14% | – | – | – | – | – | – |
| Isolated ptosis | 4, 13% | 1, 8% | – | 2, 67% | – | – | – | – | 1 |
| Combined ptosis & lash ptosis | 4, 13% | 2, 17% | 2, 29% | – | – | – | – | – | – |
| Spectacles | 13, 43% | 5, 42% | 3, 43% | 2, 67% | – | 1 | – | 1 | 1 |
| Amblyopia | 6, 20% | 2, 17% | 1, 14% | 1, 33% | – | 1 | – | – | 1 |
| Other | 1, 3% | – | – | – | – | – | – | – | 1a |
| Surgical intervention (n of subjects, %) | 12, 40% | 1, 8% | 6, 75% | 3, 100% | 1 | 1 | – | – | 1 |
| Lacrimal repairs | 7, 23% | – | 5, 62% | 1, 33% | 1 | – | – | – | – |
| Trichiasis repair | 2, 6.7% | – | – | 2, 67% | – | – | – | – | – |
| Ankyloblepharon repair | 2, 6.7% | – | – | 2, 67% | – | – | – | – | – |
| Ptosis repair | 1, 3% | – | – | – | – | – | – | – | 1 |
| Cataract extraction | 1, 3% | – | – | – | – | 1 | – | – | - |
| Other | 2, 3% | 1, 8%b | - | - | - | 1 | - | - | 1c |
ED ectodermal dysplasia, HED hypohidrotic ED, EEC ectrodactyly-ectodermal dysplasia-clefting syndrome, AEC ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, MGD meibomian gland dysfunction
aPosterior embryotoxon, posterior pole osteomas, and bilateral peripapillary colobomas
bExamination under anesthesia and punctal plugs
cOcular surface lesions biopsies