We take on any challenge
At Children’s, we provide the highest quality of care for many complex neurocutaneous syndromes, including:
- Neurofibromatosis (NF)—Neurofibromatosis type 1 (NF1) causes café au lat spots (brown patches), tumor growth along nerves, and may cause complications in bone development, learning differences, ADHD and vision problems. People with neurofibromatosis, type 2 (NF2) experience tumor growth along nerves which often leads to hearing loss. Schwannomatosis is a rare form of neurofibromatosis which causes tumors called schwannomas to grow along nerves) (Hmong, Somali, and Spanish translations available at link).
- Legius syndrome — This genetic condition causes café au lait spots (brown patches) and freckling in the armpit or groin, with the potential for mild learning disabilities and developmental delays. Detection of a mutation in SPRED1, the only gene known to be associated with Legius syndrome, is needed to confirm the diagnosis.
- Tuberous sclerosis complex (TSC) — This genetic condition causes skin changes and tumors in the brain, kidneys and heart. Many people have seizures, learning and behavioral differences. Some develop problems in the eyes and lungs.
- Von Hippel Lindau disease (VHL) — A genetic disorder characterized by tumors (cancerous and noncancerous) in various body parts. Tangled blood vessels, called hemangioblastomas, are typical and may cause life-threatening complications.
- Sturge-Weber syndrome — This condition causes problems with the development of the brain and eyes, and the blood vessels surrounding these areas. Many people with this condition have a large red or pink facial birthmark (port wine stain), and may develop seizures and vision problems.
- Hereditary hemorrhagic telangiectasia (HHT) — A genetic disorder that causes abnormal blood vessel formations that may be found in many areas of the body including the skin, lungs, brain and other internal organs.
- Incontinentia pigmenti — A condition characterized by skin abnormalities that change over time, with a range of additional symptoms that may affect vision, hair, teeth and/or neurological functioning.
- Epidermal nevus syndrome — A syndrome that causes abnormal skin growths, and may cause complications in the eyes, bones or brain.
- Noonan syndrome with multiple lentigines — A genetic syndrome characterized by skin spots, hearing loss, heart problems (pulmonary stenosis, abnormal EKG), short stature, genital abnormalities and learning differences.
- McCune Albright syndrome — A syndrome which causes large dark spots on the skin, bone abnormalities and early puberty.
- Cutis marmorata telangiectatica congenita (CMTC) — A disorder seen at birth, which causes blood vessel abnormalities. Associated complications include glaucoma, body asymmetry and/or neurological abnormalities.
- Neurocutaneous melanosis – A rare syndrome seen at birth where extra melanin-producing cells (cells that produce dark pigment) are present in the skin and membranes surrounding the brain and spinal cord.
- Albinism – A genetic condition which results in little or no melanin (pigment) in the hair, skin or eyes.
- PTEN hamartoma syndrome – A group of genetic disorders causing tumors (cancerous and noncancerous) in different parts of the body (including the thyroid, breast, intestines and endometrium), spots on the skin, larger head size and learning differences.
- Xeroderma pigmentosum – An inherited condition that causes extreme sensitivity to ultraviolent (UV) rays from sunlight. Skin, eyes and nervous system may be affected.
Collaborative care through experts who share
Not all children will need the support of all of our pediatric specialists, but we have a full team at the ready. We work with your child’s current care team to achieve optimal management of symptoms.
Your child may see specialists in the following areas:
- Genomic medicine
- Otolaryngology (ENT)
- Physical medicine and rehabilitation program
- Plastic surgery and craniofacial surgery
There are also therapies and treatments available to help manage complications of neurocutaneous syndromes. We connect you with these options, available both inpatient and outpatient:
- Occupational therapy
- Physical therapy
- Speech therapy
- Medication management
- Laser treatments