Here I present: “Huriez Scleroatrophic Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 胡裡茲硬化性萎縮綜合徵。(HRZ).
INTRODUCTION.
Huriez Scleroatrophic Syndrome (HRZ) is characterized by the triad of congenital scleroatrophy of the distal extremities, palmoplantar keratoderma, and hypoplastic nail changes. The development of aggressive squamous cell carcinoma (SCC) in areas of affected skin is a distinctive feature of the syndrome, occurring in approximately 15% of patients. HRZ-associated SCC shows early onset, mostly in the third to fourth decades of life, and early metastasis formation.
There evidence that Huriez Scleroatrophic Syndrome (HRZ) is caused by heterozygous mutation in the SNF2 related chromatin remodeling ATPase with DExD box-1 (SMARCAD1) gene on cytogenetic location 4q22.3 and genomic coordinates 4:94,207,608-94,291,292. The screenshot of the SMARCAD1 gene bp 83,685 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides SMARCAD1 in the 4q22.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 4:89,879,511 | MMRN1 | Multimerin 1 |
| 4:90,127,394 | CCSER1 | Coiled-coil serine-rich protein 1 |
| 4:92,303,966 | GRID2 | Glutamate receptor, ionotropic, delta-2 |
| 4:93,828,753 | ATOH1 | Atonal bHLH transcription factor 1 |
| 4:94,207,608 | SMARCAD1 | SNF2 related chromatin remodeling ATPase with DExD box 1 |
| 4:94,298,535 | HPGDS | Prostaglandin D2 synthase, hematopoietic |
| 4:94,451,942 | ENH | Enigma-like LIM domain protein |
| 4:94,757,955 | BMPR1B | Bone morphogenetic protein receptor, type IB |
| 4:95,162,504 | UNC5C | unc-5 netrin receptor C |
| 4:95,840,093 | PDHA2 | Pyruvate dehydrogenase E1, subunit alpha-2 |
