Multiple or familial café-au-lait spots is neurofibromatosis type 6: clarification of a diagnosis.
A café-au-lait macule (CALM) is an evenly pigmented macule or patch of variable size. Solitary CALMs are common birthmarks in up to 2.5 percent of normal neonates and their incidence rises to up to 25 percent in preschool-aged children. Two or more CALMs occur much less frequently. Multiple lesions may warrant investigation to identify an underlying disease including neurofibromatosis types 1 (NF1), neurofibromatosis type 2, McCune-Albright syndrome, and neurofibromatosis type 1-like syndrome. Considered a hallmark and diagnostic criteria for NF1 is the presence of 6 or more CALMs greater than 0.5 cm in prepubertal individuals. Rare reports describe families which demonstrate the phenomenon of multiple CALMs without other stigmata of NF1 or evidence of other systemic disease. Herein is a description of the condition and justification for this entity to be named Neurofibromatosis type 6.
Oklahoma University Health Sciences Center Oklahoma City, Oklahoma, USA.
Justin G
JG
Madson
D019080:Cafe-au-Lait Spots / Q000175:diagnosis / Q000473:pathology; D002675:Child, Preschool; D002864:Chromogranins; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D005359:Fibrous Dysplasia, Polyostotic / Q000175:diagnosis / Q000473:pathology; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics; D016514:Genes, Neurofibromatosis 1; D016515:Genes, Neurofibromatosis 2; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation; D017253:Neurofibromatoses / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D009456:Neurofibromatosis 1 / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D016518:Neurofibromatosis 2 / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D009626:Terminology as Topic
D002864:Chromogranins; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs