A 35-year-old woman presented for evaluation of a possible ectodermal dysplasia syndrome due to a history of oligodontia, including the congenital absence of greater than ten secondary teeth, and a family history of oligodontia (). The proband was the product of a full-term, uncomplicated pregnancy with a birth weight of 3232 g. Her past medical history was notable for intermittent non-bloody diarrhea, gastric reflux, peptic ulcer disease, iron deficiency anemia, polycystic ovary disease, decreased fertility, fibromyalgia, insulin resistance, fundic gland polyps, Sjogren disease, anxiety, and depression. She reported normal body hair, normal nails, and normal sweating. Previous evaluations included a normal colonoscopy and upper endoscopy exams revealing multiple fundic gland polyps at ages 33 and 35, normal capsule endoscopy at age 34, and normal rheumatology and celiac sprue evaluations.
Figure 1 Oligodontia phenotype and pedigree. (A) Panoramic radiograph demonstrating proband's congenital absence of teeth 2, 7, 10, 15, 18, 23, 24, 25, 26, 27, and 31. (B) Autosomal dominant inheritance of oligodontia, c.1989A>G, and variable colorectal (more ...)
At the time of her visit, physical exam was notable for hypognathia, malar hypoplasia, broad nasal bridge, very sparse eyebrows, fine scalp hair, and slightly upslanting palpebral fissures. Oropharyngeal exam was noted for a high palate, several missing teeth with increased spacing and conical shaping of several teeth (). She was otherwise noted to have normal body hair distribution, normal nails, and normal skin. Review of photographs from ages 4 years and 8 years showed sparse eyebrows, slightly upslanting palpebral fissures, and thin upper vermillion ().
Her family history was notable for oligodontia, absent eyebrows, sparse hair, colon polyps, early onset colon cancer, and early onset breast cancer ( and ). The proband's mother (II-2) had oligodontia with absence of most of her secondary teeth. She began colonoscopic screening at age 60 and was found to have >100 adenomatous polyps requiring a sigmoid colectomy at age 60 and a right hemicolectomy at age 62. She was evaluated in our clinic and was also noted to have soft skin with particularly scant body hair, minimal axillary hair, short eyelashes, and very sparse eyebrows, especially laterally.
Summary of Clinical Findings and Mutation Analysis
The proband had two maternal aunts, including one (II-1) with oligodontia, breast cancer diagnosed at age 44, metachronous colon cancers diagnosed at ages 50 and 59, and five adenomatous polyps of the transverse and ascending colon at age 69. The other maternal aunt (II-3) had a reported history of colon polyps, oligodontia, absent eyebrows, and sparse hair. Confirmation of her history was not available. The index patient's sister (III-2) had no dental or other ectodermal findings and had not undergone endoscopic screening. One cousin (III-1) also had no dental or ectodermal findings and had normal colon screening at age 41. The proband's maternal grandmother (I-2) died at age 97 with a reported history of oligodontia, absent eyebrows, and sparse hair, and no known history of colon polyps or cancers.