Radiosensitivity of fibroblasts obtained from a café-au-lait spot and normal-appearing skin of a patient with neurofibromatosis (NF-6)
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Radiosensitivity
Radiation sensitivity
Neurofibromin 1
Plexiform neurofibroma
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Segmental neurofibromatosis (SNF) is an uncommon variant of neurofibromatosis type 1 (NF-1) that is characterized by café au lait spots, freckles, and/or neurofibromas limited to a body segment. In this report we describe 3 adult patients with SNF who presented with only neurofibromas. Although 2 patients had no systemic involvement, the third patient had hypertrophic cardiomyopathy, a cardiologic abnormality that is associated with neurofibromatosis.
Abnormality
Neurofibromatoses
Neurofibromatosis type I
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Forty-one children, ranging in age from 1 month to 14 years, had six or more café au lait spots at their initial visit and were examined annually. Signs of neurofibromatosis type 1 eventually developed in 24. The most common feature to appear to confirm the diagnosis was skin-fold freckling, which occurred in 18 subjects. Diagnosis was based on the appearance of Lisch nodules in 5, and on neurofibromas in 3. In most instances, diagnosis was established within 3 years of initial evaluation, usually before 5 years of age. Six children had a segmental distribution of café au lait spots, suggesting segmental neurofibromatosis. In 3, diagnoses other than neurofibromatosis type 1 were established (Bannayan-Riley-Rulvalcaba syndrome, multiple lentigines syndrome, and fibrous dysplasia). In 8 subjects only multiple café au lait spots are present, and no definite diagnosis has been established. It is concluded that with regular follow-up, including physical and ophthalmological examinations, a definite diagnosis, most commonly neurofibromatosis type 1, can be established for most children having multiple café au lait spots.
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Comparison of the heat sensitivity and radiosensitivity of four human melanoma cell lines in culture revealed a large variation in sensitivity amongst the four cell lines. Three of the four cell lines had large shoulders on the survival curves when exposed to hyperthermia (44 degrees C or 45 degrees C). These three cell lines also had demonstrable shoulders on the acute radiation dose response curves. The most radiosensitive cell line did not show a shoulder region in the heat or radiation survival curves (HT-144, Dq = 0.2 Gy). Despite this consistency in the presence or absence of shoulder, there was no correlation between heat and radiation sensitivity in the four melanoma cell lines. Furthermore, regardless of radiosensitivity, all four lines studied showed competent repair of potentially lethal damage. The recovery ratios at a surviving fraction of 0.001 ranged from 5.7 to 7.6. All four lines had a similar cell cycle distribution at the time of treatment, hence the variation observed in the response of these four lines to radiation and heat was not due to differences in cell cycle kinetics. Preliminary results of DNA polymerase-alpha and -beta activities do not demonstrate a clear correlation between cellular levels of these two enzymes and radiosensitivity.
Radiosensitivity
Radiation sensitivity
Radiation Tolerance
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Plexiform neurofibroma
Neurofibromatosis type I
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Recent reports have suggested that the diagnosis of neurofibromatosis can be made by finding giant pigment granules in dihydroxyphenylalanine-incubated epidermal whole mounts from café au lait spots. Our studies indicate that these "macromelanosomes" may not be found in the hyperpigmented macules in all cases of neurofibromatosis and that they may be less common in children. Failure to find such granules should not preclude a diagnosis of neurofibromatosis.
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Objective To make a genetic diagnosis of sporadic neurofibromatosis type 1 with cafe-au-lait spots as the only presentation in a child.Methods Blood samples were collected from an 8-year-old child patient,his parents,and 100 healthy human controls.The mutation of NF1 gene was detected by PCR and direct sequencing.Results No mutation was detected in the NF1 gene of the parents or the healthy controls.There was a de novo nonsense mutation c.3520C ＞ T (p.Q1174X) in the NF1 gene of the patient,which leaded to a premature termination codon.Conclusions The child with cafe-au-lait spots as the only manifestation is diagnosed with sporadic neurofibromatosis type 1 by genetic testing.The mutation c.3520C ＞ T (p.Q1174X) may be an underlying cause of neurofibromatosis type 1.
Nonsense mutation
Presentation (obstetrics)
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