May 17th is the international day dedicated to neurofibromatosis. In Latina, people affected by this rare disease will make known through targeted initiatives a topic that has not been discussed in the past, with the need to provide the right information and make proposals.
Neurofibromatosis
THINGS
Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease is an autosomal dominant genetic disease with prevalent neurocutaneous involvement, possible ophthalmological, orthopedic, neurological, oncological and internal medicine complications. In the remaining portion, the affected subjects are the only ones in their family unit (sporadic cases).
The most frequent clinical skin signs are café-au-lait spots, axillary and inguinal freckles, and cutaneous, subcutaneous or plexiform neurofibromas.
The condition is characterized by the age-specific appearance of signs/symptoms and complications, and by the extreme variability, both within and between families.
WHO HITS?
The incidence at birth is 1 in 2500-3000. In approximately 50% the condition is inherited from a parent who is also affected.
SYMPTOMS
• Six or more café-au-lait spots > 5mm in size in childhood and >15mm in post-pubertal subjects
• Axillary and or inguinal freckles
• Two or more Lisch nodules
• Glioma of the optic nerve
• Distinctive bone lesions (tibial dysplasia with or without pseudoarthrosis and/or sphenoid dysplasia
• Cutaneous and subcutaneous neurofibromas
• Plexiform neurofibromas
• Macrocephaly
• Short
• Learning disabilities
WHY WE GET SICK
Mutations or deletions of the NF1 gene, located on chromosome 17, cause Neurofibromatosis type 1.
Mutations can be inherited from an affected parent or be a de novo, non-inherited mutation.
An affected parent can transmit the disease to their offspring with a 50% risk.
THERAPY
There is no therapy for neurofibromatosis type 1, but there are treatments for possible complications. For all complications the therapeutic approach does not differ from that set for the same problem when encountered in subjects not affected by neurofibromatosis
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