Preferred Label : Neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel
hypoplasia;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : In a family on the Isle of Man, Michaels et al. (1999) described 2 brothers and 2
sisters, ranging in age from 33 to 45 years, who presented with low-grade malignant
tumors of the submandibular gland in 3 and of the nasal cavities and maxillary sinuses
in 1. The neoplasms were all of the same histologic type, apparently hitherto undescribed,
showing well-differentiated neoplastic ducts, surrounded by neoplastic myoepithelial
cells, together with sheets of epithelial cells expressing neuroendocrine markers
by immunohistochemistry. Cervical neck node metastases had developed in all 4 cases.
In the sib with the primary sinonasal neoplasm, widespread bloodstream metastases
also became manifest and a single such metastasis was found in his brother. All 4
sibs had severe enamel hypoplasia, and the same dental abnormality was present in
5 of their 11 children. In the 2 male patients, severe sensorineural hearing loss
developed in adult life, unilateral in one and bilateral in the other. In the brother
with bilateral sensorineural hearing loss, MRI demonstrated a vestibular schwannoma
(101000) on the left side. *FIELD* RF 1. Michaels, L.; Lee, K.; Manuja, S. L.; Soucek,
S. O.: Family with low-grade neuroendocrine carcinoma of salivary glands, severe sensorineural
hearing loss, and enamel hypoplasia. Am. J. Med. Genet. 83: 183-186, 1999. *FIELD*
CS Autosomal dominant;
Inheritance : Autosomal dominant;
Neoplasia : Low-grade neuroendocrine carcinoma (submandibular glands, salivary glands, maxillary
sinus, nasal cavity); Unilateral vestibular schwannoma;
Prefixed ID : 603641;
Origin ID : 603641;
UMLS CUI : C1863649;
Automatic exact mappings (from CISMeF team)
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
