Definition:
Lamellar Ichthyosis is a rare inherited skin disorder. An infant born with this disorder is covered with a translucent membrane; after the membrane is cast off, it will reveal different sizes of red scaly skin patches.
Diagnosis:
Physical appearance and clinical presentations of the significant characteristics of an infant with Lamellar Ichthyosis can possibly be enough to confirm diagnosis of the disease.
Symptoms and Signs:
Infants are born covered with a transparent membrane, which are then shed within 10 to 14 days after birth. After the shedding process, the significant symptom of Lamellar Ichthyosis appears. Red, scaly skin patches then appear which is believed to be caused by thickening of the skin (hyperkeratosis).
Other manifestations of lamellar Ichthyosis:
* Rapid growth of hair and nail
* Small ears
* Inflexible fingers or impaired finger mobility
* Eyelids or lips turned outwards
* Inelastic skin
* Scarring alopecia
* Thin eyebrow
* Itchy sensation (Pruritus)
Causes:
Lamellar Ichthyosis is an example of an autosomal recessive genetic disorder. This means that the malfunctioning gene is located on a non-sex hormone (autosome) and both parents must bear one copy of the malfunctioning gene in order to have a child born with this rare disorder. Furthermore, Lamellar Ichthyosis involves enzyme keratinocyte transglutaminase deficiency.
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