Here I present: “BullousPemphigoid”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 牛皮疹。icd10=L12.0
INTRODUCTION.
Bullous pemphigoid (a type of pemphigoid) is an autoimmune pruritic (itchy) skin disease that typically occurs in people aged over 60, that may involve the formation of blisters (bullae) in the space between the epidermal and dermal skin layers. It is classified as a type II hypersensitivity reaction, which involves formation of anti-hemidesmosome antibodies, causing a loss of keratinocytes to basement membrane adhesion.
There is evidence that bullous pemphigoid is caused by mutation in the dystonin (DST) gene on cytogenetic location 6p12.1 and genomic coordinates 6:56,457,996-56,954,830. The screenshot of the DST gene 496,835 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides DST in the 6p12.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:55,327,469 | GFRAL | GDNF family receptor alpha-like protein |
| 6:55,434,373 | HMGCLL1 | 3-hydroxy-3-methylglutaryl-CoA lyase-like protein 1 |
| 6:55,753,653 | BMP5 | Bone morphogenetic protein-5 |
| 6:56,056,590 | COL21A1 | Collagen, type XXI, alpha-1 polypeptide |
| 6:56,457,996 | DST | Dystonin (bullous pemphigoid antigen 1) |
| 6:57,090,188 | ZNF451 | Zinc finger protein 451 |
| 6:57,172,326 | BAG2 | BAG cochaperone 2 |
| 6:57,186,992 | RAB23 | Ras-associated protein RAB23 |
| 6:57,200,001 | AITD1 | Autoimmune thyroid disease, susceptibility to, 1 |
| 6:57,221,540 | PRIM2A | Primase polypeptide 2A, 58kD |
