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“Pilomatrixoma”, Victor McKusick, Mendelian Inheritance in Man, 1966. 毛瘤。(PTR).

Here I present: Pilomatrixoma”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 毛瘤。(PTR).

INTRODUCTION.

Pilomatrixoma is a benign skin tumor derived from the hair matrix.  These neoplasms are relatively uncommon and typically occur on the scalp, face, and upper extremities. Clinically, pilomatrixomas present as a subcutaneous nodule or cyst with unremarkable overlying epidermis that can range in size from 0.5 to 3.0 cm, but the largest reported case was 24 cm.

There is evidence some cases of pilomatrixoma are caused by somatic mutation in the beta-catenin gene (CTNNB1) on cytogenetic location 3p22.1 and genomic coordinates 3:41,199,505-41,240,443. The screenshot of the CTNNB1 gene 40,939 bp (base pairs) of DNA sequence length is shown BELOW.  Nine (9) other genes besides CTNNB1 in the 3p22.1 cytogenetic location are listed BENEATH.

Coordinate  Symbol  Genomic Name 
3:39,467,680  MOBP Myelin-associated oligodendrocyte basic protein
3:39,808,914  MYRIP Myosin VIIA- and RAB-interacting protein
3:40,387,184  ENTPD3 Ectonucleoside triphosphate diphosphohydrolase 3
3:40,457,339  RPL14 Ribosomal protein L14
3:41,199,505  CTNNB1 Catenin beta 1
3:41,246,599  ULK4 Unc51-like kinase 4
3:42,013,093  TRAK1 Trafficking protein, kinesin-binding 1
3:42,257,826  CCK Cholecystokinin
3:42,360,764  LYZL4 Lysozyme-like 4
3:42,489,299  VIPR1 Vasoactive intestinal peptide receptor 1

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