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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)