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Multiple familial trichoepithelioma: a case report and review of literature
S J Yiltok1, G O Echejoh, A M Mohammad
1Department of Surgery, Jos University Teaching Hospital, Jos, Nigeria. simyiltok@yahoo.com
Objective:
Multiple familial trichoepitheliomas are rare autosomal dominant skin disease that is rarely reported from this part of the world. The lesions resemble other types of skin diseases that present with papules and nodules.
Patient And Method:
This is case report of a patient who presented with multiple facial papules and nodules. He wanted treatment to improve his facial (cosmetic) appearance.
Results:
A 36 year old single male with a 25 years history of multiple facial papules and nodules. Similar lesions were present in other members of the family. He had several treatments including that for leprosy. Histologically the lesions showed keratinized stratified squamous epithelium overlying proliferating packets of basoloid cells with hyper chromatic nuclei, along with several keratin horn cysts and moderate stroma infiltrate of chronic inflammatory cells. Based on the history and the histology a diagnosis of multiple familial trichoepithelioma was made.
Conclusion:
For a diagnosis of multiple familial trichoepithelioma to be made in patients presenting with multiple facial papules and nodules a high index of suspicion is needed. This is more so if there is a history of similar lesions in the family.
Insights
Multiple familial trichoepithelioma, a rare genetic skin disorder, presents as facial papules and nodules. Early diagnosis requires high suspicion, especially with a family history of similar lesions.
Area of Science:
- Dermatology
- Genetics
- Oncology
Background:
- Multiple familial trichoepithelioma (MFT) is a rare autosomal dominant genodermatosis.
- Facial papules and nodules are common presentations, often misdiagnosed.
- Limited case reports exist from certain geographical regions.
Observation:
- A 36-year-old male presented with a 25-year history of multiple facial papules and nodules.
- The patient sought treatment for cosmetic concerns.
- Similar lesions were observed in other family members.
Findings:
- Histopathological examination revealed characteristic features of MFT, including keratinized stratified squamous epithelium, proliferating basoloid cells, keratin horn cysts, and chronic inflammatory infiltrate.
- The diagnosis was confirmed based on clinical presentation, family history, and histopathological findings.
Implications:
- A high index of suspicion is crucial for diagnosing MFT in patients with facial papules and nodules.
- Family history is a key factor in suspecting and diagnosing this rare condition.
- Accurate diagnosis facilitates appropriate management and genetic counseling.
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