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Multiple endocrine neoplasia type 1 presenting as rosacea
J D Creamer1, S J Whittaker, W A Griffiths
1St John's Dermatology Centre, St Thomas' Hospital, London, UK.
Clinical and Experimental Dermatology
|March 1, 1996
Summary
A rare carcinoid tumor was misdiagnosed as rosacea. Further investigation revealed a parathyroid tumor, suggesting a probable case of multiple endocrine neoplasia type 1 (MEN1), requiring screening for relatives.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant syndrome.
- MEN1 is characterized by tumors of the pancreas, parathyroid, and pituitary glands.
- Carcinoid tumors can be associated with MEN1.
Observation:
- A patient presented with a malignant carcinoid tumor initially misdiagnosed as rosacea.
- The patient was subsequently found to have a functioning parathyroid tumor.
- No pituitary tumor was identified, but the clinical presentation suggested a probable MEN1 diagnosis.
Findings:
- The case highlights a potential diagnostic challenge where carcinoid tumors may mimic other conditions.
- The co-occurrence of carcinoid and parathyroid tumors strongly indicates a likely MEN1 diagnosis.
- Inoperable carcinoid tumors are effectively managed with octreotide, a somatostatin analogue.
Implications:
- A diagnosis of MEN1 has significant implications for family screening and genetic counseling.
- Early detection through screening programs is crucial for first-degree relatives of MEN1 patients.
- This case underscores the importance of considering rare genetic syndromes in complex clinical presentations.