Abstract Netherton syndrome (OMIM# 256500) is a rare but severe autosomal recessive
form of ichthyosis that affects the skin, hair, and immune system. The identification of …

Collodion baby is an uncommon clinical presentation of several genetic conditions, primarily
disorders of cornification. The severely compromised epidermal barrier presents the greatest …

The majority of keratinization disorders are referred to as Mendelian disorders of
cornification. This is a very broad group, clinically characterized by hyperkeratosis or visible …

Background In our previous study, serine protease inhibitor Kazal-type 5 (SPINK5), which
encodes the product of serine protease inhibitor lymphoepithelial Kazal-type-related …

Preimplantation genetic diagnosis (PGD) gives couples who have a high risk of transmitting
genetic disorders to their baby the chance to have a healthy offspring through embryo …

Introduction Congenital ichthyosis represents a wide spectrum of diseases. This article
reviews prenatal testing for ichthyosis. Methods We used pubmed. ncbi. nlm. nih. gov to …

DISCUSSION This is one of the very few case reports on multiple nonmelanoma skin
cancers arising in a patient with NS. The underlying mechanism of carcinogenesis in NS …

Summary Comel–Netherton syndrome, or Netherton syndrome (NS), is a rare chronic
genetic skin condition affecting the daily life of patients, which often results in poorly …

The disorders of cornification (DOC) are a heterogeneous group of inherited conditions that
involve abnormal keratinocyte differentiation resulting in dry, scaling, thickened skin, and …

Objective: Rare disease Background: Acral peeling skin syndrome is a rare autosomal
recessive disorder in which skin exfoliation is limited to the hands and feet. While it typically …