A syndrome of various cutaneous pigmented lesions, myxoid neurofibromata and atrial myxoma: the NAME syndrome

Abstract

A patient with profuse cutaneous pigmented lesions, subcutaneous myxoid neurofibromata and atrial myxoma is described. This is the second report of this syndrome, whose importance lies in the possibility of avoiding the potentially lethal consequences of a treatable cardiac tumour by recognition of distinctive cutaneous manifestations.

Comparative PRKAR1A genotype–phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice

“…I n the autosomal dominant multiple neoplasia syndrome Carney complex (CNC, Online Mendelian Inheritance in Man 160980), recurrent heart, skin, and͞or visceral myxomas are associated with spotty skin pigmentation, adrenal gland dysplasia, and schwannomas and pituitary, Sertoli, bone, ovarian, and breast tumors (1)(2)(3)(4)(5)(6). Mutations in the chromosome 17q24 PRKAR1A gene encoding the R1␣ regulatory subunit of cAMP-dependent protein kinase A (PKA) cause CNC in some kindreds (7,8).…”

Genetics of Carney complex and related familial lentiginoses, and other multiple tumor syndromes

“…It appears likely that PPNAD caused hypercortisolism in one of the patients included in the report by Dr. H. Cushing on the condition that now bears his name (19). Accordingly, several familial cases of cutaneous and cardiac myxomas associated with lentigines and blue nevi of the skin and mucosae had been described under the acronyms NAME (for nevi, atrial myxoma, myxoid neurofibromata, and ephelides) and LAMB (for lentigines, atrial myxoma, mucocutaneous myxoma, blue nevi) syndromes (20,21).…”

Right Atrial Myxoma—A Case Report

“…Familial cardiac myxomas usually suggest an autosomal dominant inheritance pattern and exhibit a variable phenotype. Patients with familial myxomas are younger at first diagnosis and they are described as having either the nevi, atrial myxoma, myxoid neurofibroma and ephelides (NAME) syndrome [1] or the lentigenes, atrial myxoma and blue nevi (LAMB) syndrome. Complex cardiac myxomas are a classification of familial tumors and occur as a syndrome presentation in 5% to 10% of myxomas.…”