Here I present: “Cutaneous Mastocytosis”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 皮膚性增質細胞增多症。(CM).
INTRODUCTION.
Mastocytosis (mast cell disease) is a heterogeneous group of clinical disorders characterized by the abnormal accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs.
Cutaneous mastocytosis (CM) is characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed the ‘Darier sign.’ In contrast to childhood-onset mastocytosis, adult-onset mastocytosis often persists for the lifetime of the patient and is also more likely to be a severe and systemic disease involving numerous organs.
Systemic mastocytosis (SM) and some cases of cutaneous mastocytosis (CM) are caused by somatic mutation in the tyrosine kinase receptor (KIT) gene.
There is evidence that some cases of cutaneous mastocytosis (CM) are caused by heterozygous germline mutation in the KIT gene on cytogenetic location 4q12 and genomic coordinates 4:54,657,957-54,740,715. The screenshot of the KIT gene 82,759 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides KIT in the 4q12 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 4:53,459,301 | LNX1 | Ligand of numb protein X1 |
| 4:54,009,789 | CHIC2 | Cysteine-rich hydrophobic domain 2 |
| 4:54,100,163 | GSX2 | GS homeobox 2 |
| 4:54,229,293 | PDGFRA | Platelet-derived growth factor receptor, alpha |
| 4:54,657,957 | KIT | Hardy-Zuckerman 4 sarcoma (v-kit) oncogene |
| 4:55,078,481 | KDR | Kinase insert domain receptor |
| 4:55,346,242 | SRD5A3 | Steroid 5-alpha-reductase 3 |
| 4:55,395,957 | TMEM165 | Transmembrane protein 165 |
| 4:55,427,903 | CLOCK | Circadian locomotor output cycles kaput |
| 4:55,556,519 | PDCL2 | Phosducin-like 2 |
