SNP Shot: Genomic Insights

Lamellar ichthyosis is a skin disorder. Newborns often present with a shiny, taut membrane called a collodion membrane encasing their skin. This membrane typically sheds within the first few weeks, revealing the characteristic scaly skin underneath, along with everted eyelids (ectropion) and lips. Individuals with lamellar ichthyosis commonly exhibit large, dark, plate-like scales covering a significant portion of their body. Newborns may face complications such as infections, dehydration, and breathing difficulties. Furthermore, individuals with this condition may experience hair loss (alopecia), abnormal nail growth (nail dystrophy), reduced sweating (hypohidrosis), heat intolerance, and thickened skin on their palms and soles (keratoderma). Less commonly, they might also display skin redness (erythema) and joint contractures.

Inheritance:

Lamellar ichthyosis follows an autosomal recessive inheritance pattern. This means that for an individual to be affected, both copies of the relevant gene in each cell must carry a mutation. The parents, while carrying one copy of the mutated gene, usually do not exhibit any signs or symptoms of the condition themselves.