PA14 Piecing together Carney complex

Abstract

Carney complex, also known as LAMB (lentigines, atrial myxomas, blue naevi) or NAME (naevi, atrial myxoma, ephelides) is a rare autosomal dominant condition characterized by multiple myxomas and various pigmented lesions. We present a case where syndrome recognition was delayed by disjointed care across different hospitals. An otherwise healthy White girl with no relevant family history presented with various skin lesions over her lifetime. At birth, about a dozen deeply pigmented discrete, irregular macules up to 1 cm in diameter were noted on her face, trunk and limbs. Histology confirmed lentigines. These became paler with age while freckles appeared on her face, lips, conjunctiva and vulva. Diagnoses of LEOPARD syndrome, Carney complex, Peutz–Jeghers syndrome and arterial dissection with lentigines were considered but there was no evidence of extracutaneous involvement and echocardiogram was normal. Genetic testing at 8 years showed no mutation in STK11, excluding Peutz–Jeghers syndrome. She was re-referred to dermatology at age 13 years with changing moles and reported having had lesions removed at other hospitals. Historical histological specimens were located and revealed two fibroepithelial polyps from the eyelids, a 3-cm vulval ‘cyst’ histologically confirmed as a superficial angiomyxoma, and several pigmented lesions reclassified as pigmented epithelioid melanocytomas. Subsequent developments included two myxomas on the areola at age 15 years and two pituitary microadenomas at 16 years. These findings prompted targeted genetic testing, which showed a heterozygous de novo pathogenic PRKAR1A variant, c.278 del, p.(Gly93fs), confirming Carney complex. This deletion is predicted to result in a frameshift and premature termination of translation. Immunohistochemistry of previously excised melanocytic lesions demonstrated loss of PRKAR1A expression (Arnaud de la Fouchardiere, Lyon, France). The patient is now under cardiac, endocrinology and dermatology follow-up. This case highlights not only the importance of multidisciplinary care within hospitals but also the need for better communication between hospitals.