Café-au-lait Spots and Neurofibromatosis

There is a group of genetic neurologic conditions called neurocutaneous syndromes where skin findings can be the first clue to a broader syndrome. One of the most common is neurofibromatosis type 1 (NF1), which occurs in up to 1 in 3000 individuals. This is a condition where benign tumors grow on nerve tissue, causing skin, bone, and sometimes brain issues.

One of the first signs of NF1 can be "café-au-lait spots", which are typically light to dark-brown flat, discrete, round or oval skin patches. These spots become more common with age, and can be more common in African-Americans, but most of us have 3 or less. If more than 5 café-au-lait spots (>5mm each) are seen, this should be considered NF1 until proven otherwise. Other findings like freckling in the armpits or groin, or firm, rubbery neurofibromas typically show up later, in preadolescence. Many with NF1 only develop a few fibromas, but they can be quite cosmetically significant for some.

Mental retardation is rare with NF1, but attentional and specific learning issues are common in this disorder. While fibromas are benign, there is a somewhat increased risk of malignancy (3-5%), and brain fibromas can be associated with epilepsy. Short stature and large head are common in NF1.

The majority of folks with NF1 have mild disease, and complications are often correctable to some degree. Treatment focusses on surgery for painful or cosmetically significant fibromas, and addressing learning issues through early intervention and school supports.

Here are the diagnostic criteria for NF1 (2 or more are required for the diagnosis), from GeneReviews:

• Six or more café au lait macules over 5 mm in greatest diameter in prepubertal individuals and over 15 mm in greatest diameter in postpubertal individuals
• Two or more neurofibromas of any type or one plexiform neurofibroma
• Freckling in the axillary or inguinal regions
• Optic glioma (tumor of the optic pathway)
• Two or more Lisch nodules (iris hamartomas)
• A distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex with or without pseudarthrosis (related orthopedic issues)
• A first-degree relative (parent, sib, or offspring) with NF1 as defined by the above criteria

Additional Resources:

• Understanding NF1 - a great resource from Harvard, with consultation video discussions
• The Children's Tumor Foundation, another NF resource for families
• The National Neurofibromatosis Foundation
• NF1 information from KidsHealth
• NF1 on MedLinePlus
• NF1 on DrGreene
• Article about neurocutaneous syndromes in general
  

Craniofacial Resources, including Cleft Lip and Palate

The Craniofacial Clinic at Children's Hospital in Seattle just went online with a great resource for craniofacial conditions like ... (following links and text from their site)

• Cleft Lip and Palate
  The most common condition that we treat.
• Velopharanynegeal Insufficiency (VPI)
  Children with cleft palate are at risk for VPI, a disorder that affects speech.
• Pierre Robin Sequence
  A birth defect that involves an abnormally small lower jaw and breathing problems.
• Stickler Syndrome
  A genetic disorder of connective tissue that results in problems with vision, hearing, facial and skeletal development.
• Velocardiofacial Syndrome
  A complex craniofacial condition often linked with cleft palate.
• Van der Woude Syndrome
  An inherited form of cleft lip and/or palate.
• Craniosynostosis
  A birth defect caused by premature fusion of skull bones; the second most common condition we treat.
• Crouzon Syndrome
  A rare genetic form of craniosynostosis.
• Apert Syndrome
  A rare genetic form of craniosynostosis.
• Saethre-Chotzen Syndrome
  A rare genetic form of craniosynostosis.
• Positional Plagiocephaly
  A change in head shape caused by external pressure on the skull.
• Hemifacial (Craniofacial) Microsomia
  A condition with underdevelopment of the ears and jaws.
• Treacher Collins Syndrome
  A rare, inherited, congenital craniofacial condition that affects the bones, jaws, skin and muscles of the face.
• Other Rare Conditions
  We treat other conditions not listed here.

The Craniofacial Clinic site also offers a glossary of craniofacial terms.

Children's has another nice resource dedicated to cleft lip and palate:

• Birth Defects ToolKit - Cleft Lip and Palate

One especially detailed document is their "Critical Elements of Care", which goes into a lot of detail about what to expect over the years in terms of clinic visits, surgeries, and other interventions:

• Critical Elements of Care: Cleft Lip and Palate
  

Protruding Tongues

The issue of protruding tongues is a difficult one in international adoption. Everybody has a strong visceral reaction to seeing it because it is a feature of Down Syndrome. BUT - we can almost always rule out Down's based on other features in referral photos.

Another rare possibility but one that carries visual associations for people, and one that we test for routinely at birth in this country, is congenital hypothyroidism. This can cause coarse facial features, large fontanelles ("soft spot" on head), protruding tongue, low tone, constipation, lethargy, etc (many of which our kids have at first for other reasons) and is associated with cognitive delays if not promptly treated in the first months of life. This used to be called "cretinism", and may also trigger developmental concerns when seeing babies with their tongue out. We test for this routinely on arrival, and some countries (Korea) screen for it as well.

Protruding tongue can also happen with orphanage-related low oral-motor muscle tone from lack of appropriate feeding practices, not having toys to mouth and chew, and nutritional deficiencies. In general, low muscle tone can be associated with other developmental concerns, but it is a frequent finding in post-institutionalized children, and one that usually improves dramatically after adoption.

This is also not necessarily a muscle tone issue - it may be a common, benign involuntary tongue protrusion associated with concentration or excitement (a la Michael Jordan).

What our local developmental experts tell Dr. Bledsoe and I is that, without other features of Down's, protruding tongue (whether from larger tongue, lower oral-motor tone, smaller jaw, "Michael Jordan-ism", etc) is not necessarily a red flag for later mental retardation, etc. As with any tone issue, we need to follow it over time ... but it's an issue that usually improves with time.