| Other CAL conditions |
Isolated CAL |
10% of general population (one or two CAL) |
|
| Familial CAL |
Isolated CAL, autosomal dominant. |
|
| Legius Syndrome |
Multiple CAL, freckling, cognitive deficits and macrocephaly, autosomal dominant. Without Lisch nodules, neurofibromas or CNS tumors |
|
| DNA Repair Deficiency Syndrome |
CAL, tumors, hematological malignant diseases, hereditary colon cancer without multiple polyposes, autosomal recessive. |
|
| NF1-Noonan Syndrome |
CAL, ocular hypertelorism, down-slanting palpebral fissures, low-set ears, webbed neck, short stature, and congenital heart disease. 12% of individuals with NF1, autosomal dominant. |
|
| Piebaldism |
Areas of cutaneous pigmentation and depigmentation, white forelock; autosomal dominant. |
|
| Bloom Syndrome |
Erythematous and sun-sensitive skin lesion of the face; severe pre- and postnatal growth deficiency; autosomal recessive. |
|
| Fanconi Anemia |
CAL or skin hypopigmentation; short stature; malformations of the thumbs, forearms; progressive bone marrow failure; autosomal recessive. |
|
| Skin disorders with CNS tumors |
Tuberous Sclerosis Complex |
Hypomelanotic skin macules, facial angiofibromas, shagreen patches, fibrous facial plaques, ungueal fibromas, SNC tumors, seizures, cognitive deficits, behavioral disorders; autosomal dominant. |
|
| McCune-Albright Syndrome |
CAL, polyostotic fibrous dysplasia, precocious puberty; sporadic. |
|
| Ataxia-telangiectasia |
Slurred speech, truncal ataxia, and oculomotor apraxia beginning between ages one and four years, telangiectasias of the conjunctivae, low immunity; autosomal recessive. |
|
| Gorlin Syndrome (nevoid basal cell carcinoma syndrome) |
Risk of developing cancerous and noncancerous tumors, most often basal cell carcinoma, less often meduloblastoma during childhood; autosomal dominant. |
|
| Sturge-Weber syndrome (encephalotrigeminal angiomatosis) |
Congenital facial cutaneous port-wine stain with associated CNS (developmental delay, seizures) and ocular abnormalities (buphtalmos, eye hemangiomas); unclear etiology. |
|
| Maculae conditions misdiagnosed with CAL |
LEOPARD Syndrome |
Multiple lentigines, hypertelorism, sensorineural deafness, hypertrophic cardiomyopathy; autosomal dominant. |
|
| Neurocutaneous melanosis |
Large or multiple congenital melanocytic nevi and benign or malignant pigment cell tumors of the leptomeninges; sporadic. |
|
| Peutz-Jeghers Syndrome |
Gastrointestinal polyposis, mucocutaneous pigmentation, and cancer predisposition; autosomal dominant. |
|
| Locally excessive growing syndromes |
Klippel-Trenauney-Weber Syndrome |
Large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues; sporadic. |
|
| Proteus Syndrome |
Progressive, segmental or patchy postnatal overgrowth of diverse tissues (skeleton, skin, adipose and SNC), linear verrucous epidermal nevus; sporadic. |
|
| Tumor conditions misdiagnosed with neurofibromas |
Lipomatosis |
Trunk and limb multiple lipomas; autosomal dominant. |
|
| Banayan-Riley-Ruvalcaba Syndrome |
Multiple lipomas and hemangiomas, macrocephaly, pigmented macules of the glan penis, cognitive deficit; autosomal dominant. |
|
| Congenital generalized fibromatosis |
Multiple nodules of fibrous tissue, congenital or apparent before age of 2 years, in muscle, bone, subcutaneous tissue and viscera, fatal or undergoing spontaneous remission. |
|
| Endrocrine multiple neoplasias type 2B (MEN2B) |
Medullary thyroid carcinoma, pheochromocytomas, mucosal neuromas, sometimes CAL; autosomal dominant. |
