Genomic coordinate 9:99,103,647
Here I present: “Squamous Epithelioma“, Victor McKusick, Mendelian Inheritance in Man’, 1966. 鱗狀上皮瘤。icd10=C44.92
INTRODUCTION.
Individuals with multiple self-healing squamous epithelioma develop multiple invasive skin tumors that undergo spontaneous regression leaving pitted scars. Age at onset is highly variable, ranging from 8 to 62 years. The disorder shows autosomal dominant inheritance, and most affected families have originated from western Scotland. Squamous epithelioma has been considered to be a variety of multiple keratoacanthoma.
There evidence that sqaumous epithelioma is conferred by heterozygous loss-of-function mutation in the transforming growth factor beta-receptor type-1 gene (TGFBR1) encoded on cytogenetic location 9q31.1 and genomic coordinate 9:99,103,647.
