SNP Shot: Genomic Insights

Hystrix-like ichthyosis with deafness (HID) is a condition defined by two main features: dry, scaly skin (ichthyosis) and significant hearing impairment, often profound deafness. The term "hystrix-like" refers to a porcupine resemblance, as the thick, spiky scales characteristic of this ichthyosis can create an appearance similar to porcupine quills.

Infants born with HID commonly present with red skin. The skin problems intensify as they age, with ichthyosis eventually affecting a large portion of the body. Typically, the palms and soles are only mildly affected. Skin cracks are possible and, in severe instances, can result in life-threatening infections. Individuals with HID have a higher susceptibility to squamous cell carcinoma, a type of skin cancer that can also impact mucous membranes like the lining of the mouth. Some individuals with HID may also experience hair loss in patches due to scarring on affected skin areas.

Inheritance:

HID follows an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene in each cell is necessary to cause the disorder. An individual with HID may inherit the gene mutation from a parent who also has the condition. However, HID can also arise from a new gene mutation in individuals with no family history of the disorder.