Wednesday, June 14, 2023

Head and neck nevi with multi lesion is.. Albert syndrome



Head and neck nevi with multi lesion is:

  • Eagle syndrome.
  • Albert syndrome. *** (Albright syndrome)

Gilbert's syndrome:

Gilbert's syndrome (also known as Gilbert's disease) is a genetic abnormality in the metabolism of bilirubin resulting in an increase in its level in the blood (hyperbilirubinemia). The only symptom is a variable jaundice that can be promoted by several conditions such as fatigue, stress, fasting or infection. This syndrome, which must be differentiated from other causes of jaundice, is benign (which does not lead to serious risks).

synonyms:

Hyperbilirubinemia type 1.

  • Family chololemia.
  • Morbus Meulengracht (according to Danish researcher Jens Einar Meulengracht).
  • Constitutional liver dysfunction.

Non-hemolytic family jaundice.

  • Gilbert-Lereboullet syndrome.
  • Benign non-conjugated bilirubinemia.

transformation of unconjugated bilirubin:

The cause is a genetic decrease of 20 to 30% in the activity of a liver enzyme, bilirubin glucuronosyltransferase (or uridine 5'-diphospho-glucuronosyltransferase 1-1 or UGT1A1).
This enzyme allows the transformation of unconjugated bilirubin into conjugated bilirubin allowing its elimination. In case of Gilbert's disease, the natural destruction of red blood cells (hemolysis) causes the formation of unconjugated bilirubin which will accumulate, causing the symptoms of "jaundice" (jaundice).

autosomal recessive:

The syndrome is usually autosomal recessive (and not dominant as previously thought), but cases of heterozygous mutations (a single mutated allele causes disease) have been identified.

nucleotide expansion:

Several mutations can be at the origin of this syndrome but two types are mainly found. First, Gilbert's disease may be caused by nucleotide expansion of the promoter by the insertion of a thymine and adenine dinucleotide into the TATA box of the UGT1A1 gene (A (TA) 7TAA instead of A (TA) 6TAA in healthy subjects4), while the coding sequence of the gene is normal.

bilirubin uptake:

The presence of the A (TA) 7TAA allele is necessary but not sufficient for the development of jaundice. Other factors are necessary for the clinical expression of Gilbert's disease: hyperhemolysis (abnormally high destruction of red blood cells), minor dyserythropoiesis (abnormality of red blood cell maturation) or defective bilirubin uptake. 'h├ępatocyte. This mutation is mostly found in Europe and the United States, but is very rare in Asia.

substitution of a glycine:

In this latter region, a different molecular cause is observed. Indeed, Gilbert's disease in Asia is caused by a mutation in the coding sequence of the gene, in exon 1: a substitution of a glycine by an arginine codon 71. It is possible that this mutation is at the origin of prolonged unconjugated bilirubin neonatal jaundice which would be, according to some theories, an early sign of Gilbert's disease.
These mutations are non-pathogenic polymorphisms; this is why the term "Gilbert's disease" is sometimes considered improper.