Here I present: “Netherton Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966.。(NS).
INTRODUCTION.
Netherton syndrome is a severe, autosomal recessive form of ichthyosis associated with mutations in the SPINK5 gene. It is named after Earl Netherton (1910–1985), an American dermatologist who discovered it in 1958.
Netherton syndrome (NS) is a severe autosomal recessive skin disorder characterized by congenital erythroderma, a specific hair-shaft abnormality, and atopic manifestations with high IgE levels. Generalized scaly erythroderma is apparent at or soon after birth and usually persists. Scalp hair is sparse and brittle with a characteristic ‘bamboo’ shape under light microscopic examination due to invagination of the distal part of the hair shaft to its proximal part. Atopic manifestations include eczema-like rashes, atopic dermatitis, pruritus, hay fever, angioedema, urticaria, high levels of IgE in the serum, and hypereosinophilia. Life-threatening complications are frequent during the neonatal period, including hypernatremic dehydration, hypothermia, extreme weight loss, bronchopneumonia, and sepsis. During childhood, failure to thrive is common as a result of malnutrition, metabolic disorders, chronic erythroderma, persistent cutaneous infections, or enteropathy.
There is evidence evidence that Netherton syndrome (NS) is caused by homozygous or compound heterozygous mutation in the SPINK5 gene encoding the serine protease inhibitor–Kazal-5, on cytogenetic location 5q32 and genomic coordinates 5:148,063,980-148,137,382. The screenshot of the SPINK5 gene 73,403 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides SPINK5 in the 5q32 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 5:147,390,808 | DPYSL3 | Dihydropyrimidinase-like 3 |
| 5:147,585,438 | JAKMIP2 | Janus kinase & microtubule-interacting protein 2 |
| 5:147,824,582 | SPINK1 | Serine protease inhibitor, Kazal type I |
| 5:147,878,711 | SCGB3A2 | Secretoglobin, family 3A, member 2 |
| 5:148,063,980 | SPINK5 | Serine protease inhibitor, Kazal type, 5 |
| 5:148,202,778 | SPINK6 | Serine peptidase inhibitor, KAZAL-type, 6 |
| 5:148,268,794 | SPINK13 | Serine protease inhibitor, Kazal-type, 13 |
| 5:148,312,423 | SPINK7 | Serine peptidase inhibitor, Kazal-type, 7 |
| 5:148,321,305 | SPINK9 | Serine protease inhibitor, Kazal-type, 9 |
| 5:148,383,958 | FBXO38 | F-box only protein 38 |
