Here I present: “Vohwinkel Syndrome (ichthyosis)”, Victor McKusick, Mendelian Inheritance in Man’, 1966 ヴォヴィンケル症候群。(LOR) 沃温克尔综合。
INTRODUCTION.
Keratoderma is a congenital (or acquired) hornlike skin condition.
The keratodermas are classified into the following subgroups:
- Simple keratodermas
- Diffuse palmoplantar keratodermas
- Diffuse epidermolytic palmoplantar keratoderma
- Diffuse nonepidermolytic palmoplantar keratoderma
- mal de Meleda
- Focal palmoplantar keratoderma
- Striate palmoplantar keratoderma
- Punctate palmoplantar keratoderma
- Keratosis punctata palmaris et plantaris
- Spiny keratoderma
- Focal acral hyperkeratosis
- Complex keratodermas
- Diffuse palmoplantar keratoderma
- Erythrokeratodermia variabilis
- Palmoplantar keratoderma of Sybert
- Olmsted syndrome
- Naegeli–Franceschetti–Jadassohn syndrome
- Focal palmoplantar keratoderma
- Papillon–Lefèvre syndrome
- Pachyonychia congenita type I
- Pachyonychia congenita type II
- Focal palmoplantar keratoderma with oral mucosal hyperkeratosis
- Camisa disease
- Ectodermal dysplasias
- Clouston’s hidrotic ectodermal dysplasia
- Acrokeratotic poikiloderma
- Dermatopathic pigmentosa reticularis
- Syndromic keratodermas
- Vohwinkel syndrome
- Palmoplantar keratoderma associated with esophageal cancer
- Palmoplantar keratoderma and spastic paraplegia
- Naxos disease
- Striate palmoplantar keratoderma, woolly hair, and left ventricular dilated cardiomyopathy
- Keratitis-ichthyosis-deafness syndrome
- Corneodermatosseous syndrome
- Huriez syndrome
- Oculocutaneous tyrosinemia
- Cardiofaciocutaneous syndrome.
There is evidence that the keratoderma Vohwinkel syndrome (mutilating keratoderma with ichthyosis) is caused by heterozygous mutation in the gene encoding loricrin (LOR) a component of the epidermal differentiation complex (EDC) on cytogenetic location 1q21.3 and genomic coordinates 1:153,259,687-153,262,124 . The screenshot of the loricrin (LOR) gene 2,438 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides loricrin (LOR) in the 1q21.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name. |
| 1:153,093,135 | SPRR2E | Small proline-rich protein 2E |
| 1:153,112,121 | SPRR2F | Small proline-rich protein 2F |
| 1:153,149,582 | SPRR2G | Small proline-rich protein 2G |
| 1:153,203,430 | LELP1 | Late cornified envelope-like proline-rich 1 |
| 1:153,259,687 | LOR | Loricrin |
| 1:153,297,116 | PGRPIA | Peptidoglycan recognition protein, intermediate, alpha |
| 1:153,330,120 | PGRPIB | Peptidoglycan recognition protein, intermediate, beta |
| 1:153,357,854 | S100A9 | S100 calcium-binding protein A9 |
| 1:153,373,711 | S100A12 | S100 calcium-binding protein A12 |
| 1:153,390,032 | S100A8 | S100 calcium-binding protein A8 |
