Autosomal Recessive Congential 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).

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Meet Cynthia Meet Alec Meet Treasure Meet John

 

Read the November 2013 report on the Galderma Study, Lamellar ichthyosis A qualitative survey in the US and Europe

Learn more about FIRST's Regional Support Network -  connecting affected individuals and families with each other.

 


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