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Sunday, November 24, 2024

A Rare, Fatal Skin Disease Has Been Cured in Patients For The First Time : ScienceAlert

Toxic Epidermolysis Necrotic

A rare and potentially fatal skin infection with nightmarish outcomes may soon have a cure.

The infection starts as a seemingly harmless rash, and before a person knows it, more than 30 percent of the skin on their body begins to blister and peel off in sheets, usually starting with the face and chest before progressing to the mouth, eyes, and genitals. 

Without treatment the TEN has a 60% mortality rate

Infections, organ failure, and pneumonia can soon follow. In a third of all cases, the condition proves fatal. For those who survive, recovery can take months and usually requires similar treatment to burn victims.

The debilitating infection is an immune response to medication, called toxic epidermal necrolysis (TEN). While it is thankfully scarce, impacting a million or two people worldwide every year, its onset is highly unpredictable.

TEN is linked with more than 200 medications, and it can impact all age groups and ethnicities, although it tends to be more common in females than males and is 100 times more prevalent in those with the human immunodeficiency virus ( HIV).

The infection starts as a seemingly harmless rash, and before a person knows it, more than 30 percent of the skin on their body begins to blister and peel off in sheets, usually starting with the face and chest before progressing to the mouth, eyes, and genitals.

Infections, organ failure, and pneumonia can soon follow. In a third of all cases, the condition proves fatal. For those who survive, recovery can take months and usually requires similar treatment to burn victims.

The debilitating infection is an immune response to medication, called toxic epidermal necrolysis (TEN). While it is thankfully sporadic, impacting a million or two people worldwide every year, its onset is highly unpredictable.

TEN is linked with more than 200 medications, and it can impact all age groups and ethnicities, although it tends to be more common in females than males and is 100 times more prevalent in those with the human immunodeficiency virus ( HIV).

An international team of researchers, led by biochemists at the Max Planck Institute in Germany, now claim to have cured seven patients with TEN or a slightly less severe version of the infection, known as Stevens-Johnson syndrome (SJS). None of the patients reported side effects.


Key steps of the JAK-STAT pathway. JAK-STAT signaling is made of three major proteins: cell-surface receptors, Janus kinases (JAKs), and signal transducer and activator of transcription proteins (STATs). Once a ligand (red triangle) binds to the receptor, JAKs add phosphates (red circles) to the receptor. Two STAT proteins then bind to the phosphates, and then the STATs are phosphorylated by JAKs to form a dimer. The dimer enters the nucleus, binds to DNA, and causes transcription of target genes. The JAK-STAT system consists of three main components: (1) a receptor (green), which penetrates the cell membrane; (2) Janus kinase (JAK) (yellow), which is bound to the receptor, and; (3) a Signal Transducer and Activator of Transcription (STAT) (blue), which carries the signal into the nucleus and DNA. The red dots are phosphates. After the cytokine binds to the receptor, JAK adds a phosphate to (phosphorylates) the receptor. This attracts the STAT proteins, which are also phosphorylated and bind to each other, forming a pair (dimer). The dimer moves into the nucleus, binds to the DNA, and causes the transcription of genes. Enzymes that add phosphate groups are called protein kinases.[5]

The class of drugs, called JAK inhibitors (JAKi), seem to work by suppressing an overactive immune pathway.  Altogether, they identified six proteins involved in the JAK/STAT pathway that are upregulated in those with the skin infection.

The JAK/STAT pathway is the main driver of skin inflammation, damaged skin cells, and epidermal detachment.


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