Genetic Mutations

Genetic Mutations play a crucial role in understanding and diagnosing several diseases related to dermatology. DNA mutations are a form of mutation that changes the chemical sequence of the DNA base pairs of a specific gene. This alteration in the genetic sequence can happen in a number of ways. Certain common types of genetic mutations that pertain to dermatology include point mutations, insertion or deletions, and chromosomal rearrangements. Point mutations result in the alteration of one nucleotide base pair and involve the substitution, insertion, or deletion of the nucleotides in a codon. This type of mutation usually results in a missense or nonsense mutation. Missense mutations occur when the incorrect codon is inserted into the protein, resulting in a change in the amino acid, while nonsense mutations result in a truncated protein. Insertion or deletions involve the alteration of multiple nucleotide base pairs resulting in a frameshift mutation when the codons of the new amino acids are not the same. Chromosomal rearrangements occur when there is a change in the structure of the chromosome leading to the altered expression of the genes. This type of mutation usually results in ambiguous conditions. Translocations, duplications, and deletions of the chromosomal material can lead to the abnormal expression of the genes. These rearrangements may be limited to certain regions of the chromosome or may affect a larger segment of the chromosome. The presence of genetic mutations in skin cells can lead to numerous different skin disorders. Certain deletions or point mutations may be responsible for the development of conditions such as folliculitis, hordeolum, and hidradenitis suppurativa among others. Chromosomal rearrangements can cause a number of syndromes related to the skin including xeroderma pigmentosum, epidermolysis bullosa, and ichthyosis. Genetic mutations form the basis for the development and progression of several dermatologic conditions. Knowing the possible genetic mutations associated with each condition can help medical professionals in diagnosing and treating each condition. The diagnosis and prognosis of the diseases can be improved through better understanding of this genetic component.