๐ ็ธฝ็ฎ้ ๏ฝ ๐ ่ฑๆๅๆ๏ผๆฌ็ฏ๏ผ ๏ฝ ๐ ๅฎๆด็ฟป่ญฏ ๏ฝ โญ ็ฒพ่ฏ็ญ่จ
Bannayan-Riley-Ruvalcaba syndrome
Bannayan-Riley-Ruvalcaba syndrome
Clinical features Bannayan-Riley-Ruvalcaba syndrome is also known as Ruvalcaba-Myhre- Smith syndrome, Riley-Smith syndrome, and Bannayan-Zonana syndrome.1โ4 It is transmitted in an autosomal dominant fashion and is characterized by macrocephaly, hamartomatous intestinal polyps, and pigmented macules on the glans penis and vulva.1โ3 Additional findings include Hashimoto thyroiditis, multiple subcutaneous lipomas, acanthosis nigricans, warty and papular lesions, cutaneous and central nervous system vascular malformations, macrocephaly, mental retardation, skeletal abnormalities, and occasionally epidermal nevi.5,6
1009 Carney complex
The disease had, however, been reported earlier in the literature.4 It is a multiple neoplasia syndrome. Carney complex is transmitted as an autosomal dominant trait with rare sporadic cases.5 It is characterized by cutaneous and cardiac (atrial) myxomas, multiple lentigines, blue nevi, endocrine overactivity, and osteochondromyxomas.6โ12 The endocrine activity may manifest as Cushing syndrome (due to primary pigmented nodular adrenocortical disease), acromegaly (due to a growth hormone-producing pituitary adenoma), and sexual precocity (caused by a large-cell calcifying Sertoli cell tumor). Male infertility not related to testicular neoplasms may be seen.13 Other types of endocrine tumors can occur including thyroid hyperplasia or follicular or papillary carcinoma.14,15 Intraductal papillary mucinous tumor of the pancreas is exceptional.16 A distinctive type of schwannoma initially described as psammomatous melanotic schwannoma (occasionally nonpsamommatous) and now regarded as malignant and renamed as malignant melanotic schwannian tumor that also occurs in a sporadic setting is seen rarely, may be multiple, and affects the sympathetic nerve chains, the gastrointestinal tract, and (exceptionally) the skin.7,17โ22 The label of malignant is because prediction of behavior is not possible based on histologic features; metastasis of some tumors may result in death.17,18 Ovarian cysts may also occur.18 A rare case of intrathyroidal ectopic thymus, two with intracranial aneurysms, and very rarely hepatocellular carcinoma have been reported.23โ26 In a pediatric patient, the syndrome presented with a maxillary sinus melanoma.27
Pathogenesis and histologic features It has been suggested that this syndrome may represent a variant of Cowden syndrome.4,5,7 Both conditions show mutations in the tumor suppressor gene PTEN (phosphatase and tensin homologue) and it appears that the syndromes are age-related manifestations of the same entity and are classified under the PTEN hamartoma tumor syndrome.8โ11
โข Biopsies of the cutaneous warty lesions show the features of a papilloma or a trichilemmoma.
โข Biopsies of the papules show the features of a syringoma.5
โข Biopsies of the pigmented macules show increased melanin in basal cells and a slight increase in the number of basal melanocytes.5