Autosomal Recessive Congenital Ichthyosis - Lamellar Ichthyosis Type

Other names:  autosomal recessive congenital ichthyosis (ARCI); lamellar ichthyosis (LI)

OMIM: 242300

Inheritance: autosomal recessive in most cases

Incidence: 1:200,000

Key findings:
 
  • skin: generalized flat, polygonal, dark, often large (>1cm) scales; palms and soles usually thickened; variable redness under scales; ectropion usually present; may have clinical overlap with ARCI-CIE type due to shared gene mutations 
  • hair: no shaft abnormalities; alopecia has been reported in some cases
  • nails: usually normal; may become dystrophic
Associated findings: usually none

Age at first appearance: birth, usually as collodion baby

Long-term course: lifelong; skin appearance may evolve early in life but generally stable thereafter;  increased susceptibility to bacterial and fungal infections of skin; heat intolerance may be a problem for some

Diagnostic tests: genetic testing of blood

Abnormal gene(s): transglutaminase 1 (TGM1) in many cases; mutations also reported in ATP-binding cassette sub-family A member 12 (ABCA12), cytochrome P450 4F22 (CYP4F22), and ichthyin (NIPAL4).
 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Clinicians seeking to confirm a diagnosis should visit FIRST's TeleIchthyosis site to submit a case to experts in ichthyosis.

To learn more about ARCI-lamellar type ichthyosis, follow this link.

To learn more about Timber's ARCI Clinical Trial, follow this link.

Learn more about FIRST's Regional Support Network -  connecting affected individuals and families with each other. Or call the FIRST office at 800.545.3286.

This information is provided as a service to patients and parents of patients who have ichthyosis.  It is not intended to supplement appropriate medical care, but instead to complement that care with guidance in practical issues facing patients and parents.  Neither FIRST, its Board of Directors, Medical & Scientific Advisory Board, Board of Medical Editors nor Foundation staff and officials endorse any treatments or products reported here.  All issues pertaining to the care of patients with ichthyosis should be discussed with a dermatologist experienced in the treatment of their skin disorder.

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