[Cutaneous lesion associated with multiple endocrine neoplasms type 2A (Sipple's syndrome). An early clinical marker].
We report the association of a cutaneous lesion with multiple endocrine neoplasia type 2A (MEN 2A) in three patients from a French family. These lesions are very similar to those previously described in an Italian and an American MEN 2A family and called cutaneous lichen amyloidosis. In all three families the patients presented with a pruritic and pigmented cutaneous lesion localized unilaterally on the upper back. However, in the French family the patients also complained of paroxysmal pain in the same area, in which we could elicit a touch hypoesthesia and pain hyperesthesia. Such an association of cutaneous and neurological features in the upper back is known as Notalgia Paresthetica (NP). NP is believed to represent a neuropathy of the posterior dorsal nerve rami. Unlike the two previously reported families, the histological, immunohistochemical and ultrastructural analysis of the skin biopsies of the French patients did not show any amyloid material. This suggests that the presence of amyloid may not be a constant feature of the cutaneous lesions associated with MEN 2A. We consider these lesions as a form of dorsal neuropathy rather than a cutaneous lichen amyloidosis. Whatever their origin, these cutaneous lesion usually precede the appearance of the neoplastic lesions of MEN 2A. They may act as an early clinical marker that must be searched for in each subject at risk for MEN 2A. In addition, all patients presenting with NP should be screened for MEN 2A.
Service d'Endocrinologie-Diabétologie, Maladies de la Nutrition, CHU, Grenoble.
O
O
Chabre
F
F
Labat-Moleur
F
F
Berthod
V
V
Tarel
P
P
Stoebner
H
H
Sobol
I
I
Bachelot
D000310:Adrenal Gland Neoplasms / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D006961:Hyperparathyroidism / Q000150:complications / Q000235:genetics; D008297:Male; D009377:Multiple Endocrine Neoplasia / Q000150:complications* / Q000235:genetics; D009422:Nervous System Diseases / Q000150:complications; D010673:Pheochromocytoma / Q000150:complications* / Q000235:genetics; D011537:Pruritus / Q000209:etiology* / Q000473:pathology; D012307:Risk Factors; D013964:Thyroid Neoplasms / Q000150:complications* / Q000235:genetics
Atteinte cutanée associée à la néoplasie endocrinienne multiple de type 2A (syndrome de Sipple). Un marqueur clinique précoce.