Hereditary bullous dystrophy, macular type is a rare genetic disorder that affects the skin and eyes. It is characterized by the formation of blisters on the skin and a progressive loss of vision due to the formation of scar tissue on the macula, the part of the eye responsible for central vision. Symptoms typically begin in childhood and can include blisters on the hands, feet, and other areas of the body, as well as vision loss. Treatment typically involves medications to reduce inflammation and scarring, as well as surgery to remove scar tissue from the macula.

The symptoms of Hereditary bullous dystrophy, macular type include:

-Blistering of the skin, usually on the hands, feet, and lower legs
-Macular scarring, which can cause vision loss
-Itching and Burning sensation on the affected areas
-Thickening of the skin
-Discoloration of the skin
-Painful Blisters that may rupture and form scabs
-Scarring of the skin
-Thickening of the nails
-Hair loss in the affected areas

Hereditary bullous dystrophy, macular type is caused by mutations in the TGM5 gene. This gene provides instructions for making an enzyme called transglutaminase 5, which is involved in the formation of a protein called laminin-332. This protein is found in the basement membrane, which is a thin layer of cells that separates the outer layer of skin (epidermis) from the underlying tissue. Mutations in the TGM5 gene reduce the amount of functional transglutaminase 5 enzyme, which disrupts the formation of laminin-332. Without enough of this protein, the basement membrane weakens and blisters form in the skin.

The primary treatment for Hereditary bullous dystrophy, macular type is to manage the symptoms. This may include the use of lubricating eye drops, artificial tears, and ointments to reduce dryness and irritation. In some cases, medications such as corticosteroids may be prescribed to reduce inflammation. Surgery may be recommended to remove scar tissue or to repair the cornea. In some cases, laser therapy may be used to reduce the size of the blisters.

1. Family history of the disorder
2. Genetic mutation in the TGM1 gene
3. Age (most commonly affects children and young adults)
4. Exposure to ultraviolet light
5. Certain medications, such as tetracycline antibiotics
6. Certain skin conditions, such as eczema or psoriasis

There is no cure for Hereditary bullous dystrophy, macular type. However, there are medications that can help manage the symptoms. These include topical corticosteroids, topical calcineurin inhibitors, and oral retinoids. Additionally, laser therapy and photodynamic therapy may be used to reduce the size of blisters and improve vision.