title: Is the distribution of dermal neurofibromas in neurofibromatosis type 1 (NF1) related to the pattern of the skin surface temperature?
abstract: The formation of dermal neurofibromas is a hallmark of the neurofibromatosis type 1 (NF1). A total loss of the NF1 gene product by stochastic events inactivating the wild type allele in Schwann cells should precede the development of neurofibromas. Dermal neurofibromas tend to be located mainly on the surface of the trunk and not in the body periphery. This distribution partly resembles the density of sensitive nerve endings in the epidermis. Our hypothesis is that a better correlation concerns the pattern of normal body surface temperature. According to our clinical observations we assume that in skin areas with higher temperatures the number of visible dermal neurofibromas is higher than in colder areas such as the arms/legs or nose. It is known that differences in temperature are able to determine differentiation. We suggest that the regulation of skin temperature is also involved in the formation of NF1 dermal neurofibromas and is related to the intrafamilial variability in NF1.
authors.affiliation: Abteilung Humangenetik, Universität Ulm, Albert-Einstein-Allee 11, D 89070 Ulm, Germany. dieter.kaufmann@medizin.uni-ulm.de
authors.forename: D
authors.initials: D
authors.lastname: Kaufmann
authors.forename: S
authors.initials: S
authors.lastname: Tinschert
authors.forename: B
authors.initials: B
authors.lastname: Algermissen
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009455:Neurofibroma / Q000235:genetics / Q000473:pathology; D009456:Neurofibromatosis 1 / Q000235:genetics / Q000473:pathology*; D012881:Skin Temperature; D013817:Thermography / Q000379:methods