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Multiple endocrine neoplasia type 2b associated with lichen nitidus.

Asli Altaykan¹, Sibel Ersoy-Evans, Serap Emre

¹Hacettepe University Faculty of Meicine, Department of Dermatology, Ankara, Turkey.

European Journal of Dermatology : EJD

|June 2, 2007

Summary

This case report details a rare instance of Multiple Endocrine Neoplasia (MEN) type 2B syndrome, characterized by unique skin findings of lichen nitidus. The diagnosis was confirmed by genetic testing revealing a RET proto-oncogene mutation.

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Area of Science:

Endocrinology
Dermatology
Genetics

Background:

Multiple Endocrine Neoplasia (MEN) type 2B is a rare autosomal dominant disorder.
It is characterized by medullary thyroid carcinoma, pheochromocytoma, and mucosal/intestinal neuromas.
Skin manifestations are uncommon but can occur.

Observation:

A 19-year-old female presented with generalized skin-colored papules.
She exhibited marfanoid habitus, thickened lips, and papules on eyelids and oral mucosa.
Histopathology confirmed lichen nitidus of a skin lesion.

Findings:

The patient had a history of medullary thyroid carcinoma.
Genetic analysis identified a RET proto-oncogene mutation (M918T).
The clinical presentation and genetic findings led to a diagnosis of MEN type 2B.

Implications:

This case highlights an unusual association between MEN type 2B and lichen nitidus.
It underscores the importance of thorough dermatological examination in diagnosing rare genetic syndromes.
Further research may elucidate the specific mechanisms linking RET mutations to cutaneous manifestations like lichen nitidus.