Which is not a feature of Netherton Syndrome?
Ans. A. Autosomal dominanta. Netherton Syndrome: This autosomal recessive disorder is characterized by ichthyosis (usually ichthyosis linearis circumflexa but occasionally the lamellar or congenital ichthyosiform erythroderma types), trichorrhexis invaginata and other hair shaft anomalies, and atopic diathesis.b. Mutations in the gene SPINK 5, which encodes a serine protease inhibitor, have been identified in patients with Netherton syndrome.c. The ichthyosis is present in the 1st 10 days of life and may be especially marked around the eyes, mouth, and perineal area. The erythroderma is often intensified after infection.d. Infants may suffer from failure to thrive, recurrent bacterial and candidal infections, elevated serum IgE levels, and marked hypernatremic dehydration.e. The most frequent allergic manifestations are urticaria, angioedema, atopic dermatitis, and asthma. Scalp hair is sparse and short and fractures easily eyebrows, eyelashes, and body hair are also abnormal.f. The characteristic hair abnormality can be identified with light microscopy. In the new born, it may best be identified in eye brow hair.
Autosomal dominant
Ichthyosis
Very short hair
Erythroderma
Autoimmune Skin Disorders