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Table 2 Rare manifestations observed in the study and grouped by tumors, malformations, endocrine disorders, cystic lesions, and others

From: Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)

Tumors (n = 248) Malformations (n = 119) Vascular malformations (n = 5) Cystic lesions (n = 20) Endocrine disorders (n = 6) Others (n = 9)
Cartilaginous tumors of nasal septum (n = 1) Calvarium sclerosis and thickening (n = 4) Angiomatosis femoris (n = 1) Liver cyst (n = 9) Graves's disease (n = 2) Laryngomalacia (n = 1)
Abdominal cystic pelvic tumor
(n = 1)
Coloboma of iris
(n = 1)
Aneurysm of anterior cerebral artery (n = 1) Ovarian cyst (n = 8) Hyperthyroidism (n = 2) Leg edema (n = 1)
Adrenal angiomyolipoma (n = 17) Club foot (n = 1) Carotid aneurysm (n = 1) Pancreatic cystic lesion (n = 2) Hyperparathyroidism (n = 1) Myositis ossificans (n = 1)
Angiomyolipoma of uterus (n = 1) Congenital duodenal atresia (n = 1) Chyloperitoneum (n = 1) Pancreatic cystic lesion (small) (n = 1) Hypothyroidism (n = 2) Pyoderma gangrenosum (n = 1)
Angiomyolipoma other localization (n = 3) Foot inversion (n = 1) Chyloperitoneum in pelvis cavity (n = 1) Perineural cyst (n = 1) Hypopituitary [hypothyroidism] (n = 1) Lymphedema (n = 7)
Bile duct adenoma (n = 1) Anterior polar cataract (n = 1) Lymphangioma in pelvis cavity (n = 1) Arachnoid cyst (n = 2)   
Bladder lyoma (n = 1) Hemihypertrophy (n = 12)     
Bone sclerotic foci (n = 151) Hernia diaphragm (n = 1)     
Cardiac lipoma (n = 3) Hip dysplasia (n = 2)     
Cartilaginous exostosis (n = 1) Hyperostosis (n = 1)     
Chordoma (n = 3) Hypospadias (n = 2)     
Chyloperitoneum lymphangioma (n = 1) Anal malformation (n = 1)     
  Kyphosis (n = 1)     
Lymphangioma in pelvis cavity (n = 1) Cerebellum angioma (n = 1)     
Dermoid cyst (n = 1) Scoliosis (n = 88)     
Desmoplastic fibroma sinus maxillaris (n = 1) Plantar fibromatosis (n = 1)     
Epidermal cyst in ear canal
(n = 1)
Slipped femoral epiphyses (n = 1)     
Fibrolipoma (n = 1) Spina bifida occulta (n = 1)     
Fibrous bone disorder
(n = 1)
Syringomyelia (n = 1)     
Fibrous hamartoma T2 spine (n = 1)      
Gall bladder polyp (n = 3)      
Hamartoma breast (n = 1)      
Hamartoma stomach (n = 3)      
Intraductal papillary mucinous neoplasm (n = 1)      
Liver angiomyolipoma (n = 6)      
Liver hamartoma (n = 3)      
Liver hemangioma (n = 2)      
Lung tumor (n = 1)      
Lymph nodes from the renal resection region with a pattern of angiomyolipoma (n = 1)      
Neuroendocrinic carcinoid tumor grade 1 in the duodenum
(n = 1)
     
Neurofibroma (n = 1)      
Osteochondrome (n = 1)      
Ovarian tumor (n = 1)      
Pancreatic angiomyolipoma (n = 1)      
Pancreatic hamartoma (n = 1)      
Pancreatic tumor (n = 3)      
Parathyroid adenoma (n = 4)      
Parathyroid nodule (n = 1)      
Part solid and part cystic lesion in pancreas tail (n = 1)      
PEComa [perivascular epithelial cell tumor] of the uterus or ovary (n = 2)      
PEComa heart (n = 1)      
pNET (n = 12)      
Polypoid lesion in gall bladder (n = 2)      
Secreting pituitary adenoma (n = 3)      
Spleen angiomyolipoma (n = 9)      
Spleen hamartoma (n = 3)      
Stomach hamartoma (n = 3)      
Struma (n = 1)      
Submandibular gland tumor (n = 1)      
Thyroid adenoma (n = 21)      
Thyroid nodule (n = 2)      
Unspecified subcutaneous neoplasm in the thoracic region (n = 1)      
Unspecified tumor of nasal cavity (n = 1)      
Uterus myoma (n = 1)