Background Steroid sulfatase (STS) gene disruption causes X-linked ichthyosis (XLI).
Interrogating the entire genome through chromosomal microarray (CMA), a test primarily …

Background X‐linked recessive ichthyosis (XLI) is a relatively common type of ichthyosis
caused by a deficiency in the steroid sulfatase (STS) enzyme. It is the only type of ichthyosis …

X‐linked recessive ichthyosis (XLI) is a hereditary skin disease characterized by generalized
dryness and scaling of the skin, with frequent extracutaneous manifestations. It is the second …

Autosomal recessive congenital ichthyosis is a heterogenous group of disorders that are
present at birth with generalized involvement of skin and lack of other organ systems …

Epidermolysis bullosa (EB) is a rare genetic disease that causes mucocutaneous fragility. It
comprises a clinically and genetically heterogeneous group of disorder characterized by …

Background Ichthyosis is a heterogeneous group of diseases caused by genetic disorders
related to skin formation. They are characterized by generalized dry skin, scaling …

La epidermólisis bullosa (EB), enfermedad genética de fragilidad mucocutánea rara y
devastadora, es clínica y genéticamente heterogénea. Se caracteriza por la aparición de …

Ichthyoses are a heterogenous group of hereditary keratinization disorders that share in
common the accumulation & shedding of large amounts of hyperkeratotic epidermis. Early …

The heterogeneous and large group of ichthyoses is highly relevant for neonatologists,
paediatric dermatologists and paediatricians. The diseases are characterized by …

Lamellar ichthyosis (LI) is a rare genetic skin disorder that is present at birth, with an
incidence of< 1: 300,000 in different parts of the world. However, there is little evidence of …