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Ambras Syndrome with Gingival Hyperplasia: A Rare Entity
Vinay Kumar Reddy Kundoor1, Kotya Naik Maloth1, Sunitha Kesidi1
1Department of Oral Medicine and Radiology, Mamata Dental College and Hospital, Khammam, Telangana, India.
International Journal of Trichology
|September 8, 2016
Summary
Ambras syndrome, a rare congenital hypertrichosis, typically presents with facial changes and family history. This case highlights a rare instance of Ambras syndrome associated with gingival hyperplasia in a patient with consanguinity.
Area of Science:
- Genetics
- Dermatology
- Rare Diseases
Background:
- Ambras syndrome is a rare genetic disorder characterized by congenital hypertrichosis.
- It typically involves distinctive facial features and a familial inheritance pattern.
- Association with gingival hyperplasia is exceptionally uncommon.
Observation:
- A 38-year-old female patient presented with symptoms suggestive of Ambras syndrome.
- The patient had a documented history of consanguinity.
- A positive family history for similar conditions was noted.
Findings:
- The patient exhibited dysmorphic facial features characteristic of Ambras syndrome.
- Gingival hyperplasia was observed, representing a rare co-occurrence.
- The familial pattern and consanguinity suggest a genetic basis for the syndrome.
Implications:
- This case expands the known clinical spectrum of Ambras syndrome.
- It underscores the importance of considering rare genetic conditions in patients with unusual symptom combinations.
- Further research into the genetic underpinnings of Ambras syndrome and its varied manifestations is warranted.
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