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==Overview==


'''Ichthyosis lammellaris''', also known as '''(recessive) lamellar ichthyosis''' and '''nonbullous congenital ichthyosis''', is a rare inherited skin disorder, affecting less than 1 person in 300,000.
==Pathophysiology==
===Genetics===
<div style="float: right;">
[[Image:autorecessive.jpg|400px|thumb|{{PAGENAME}} has an autosomal recessive pattern of inheritance.]]
</div>
This condition is an [[autosomal recessive]] [[genetics|genetic]] disorder, which means the defective gene is located on an [[autosome]], and both parents must carry one copy of the defective gene in order to have a child born with the disorder. Carriers of a [[recessive gene]] usually do not show any signs or symptoms of the disorder.


'''Ichthyosis lammellaris''', also known as '''(recessive) lamellar ichthyosis''' and '''nonbullous congenital ichthyosis''', is a rare inherited skin disorder, affecting less than 1 person in 300,000.
Ichthyosis lamellaris is associated with a deficiency of the enzyme [[keratinocyte transglutaminase]].
 
==Diagnosis==


==Presentation==
===Symptoms===
Affected babies are born in a [[collodion]] membrane, a shiny waxy outer layer to the skin. This is shed  10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by [[hyperkeratosis]]. As the child grows, other symptoms manifest themselves, including rapid nail and hair growth. The skin can be put under tension by the scaling, possibly resulting in small ears, inflexible fingers and [[ectropion]], the turning outwards of the eyelids or lips.
Affected babies are born in a [[collodion]] membrane, a shiny waxy outer layer to the skin. This is shed  10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by [[hyperkeratosis]]. As the child grows, other symptoms manifest themselves, including rapid nail and hair growth. The skin can be put under tension by the scaling, possibly resulting in small ears, inflexible fingers and [[ectropion]], the turning outwards of the eyelids or lips.


With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.
With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.


==Genetics==
===Physical Examination===
 
====Skin====
=====Collodin baby=====
<gallery>
Image:Collodin baby01.jpg|Collodin baby. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
 
Image:Collodin baby02.jpg|Collodin baby. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
 
Image:Collodin baby03.jpg|Collodin baby. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>


[[Image:autorecessive.jpg|thumb|left|{{PAGENAME}} has an autosomal recessive pattern of inheritance.]]
Image:Collodin baby04.jpg|Collodin baby. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>


This condition is an [[autosomal recessive]] [[genetics|genetic]] disorder, which means the defective gene is located on an [[autosome]], and both parents must carry one copy of the defective gene in order to have a child born with the disorder. Carriers of a [[recessive gene]] usually do not show any signs or symptoms of the disorder.  
Image:Collodin baby05.jpg|Collodin baby. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
 
Image:Collodin baby06.jpg|Collodin baby. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>


Ichthyosis lamellaris is associated with a deficiency of the enzyme [[keratinocyte transglutaminase]].
</gallery>
=====Lamellar Icthyosis=====
<gallery>
Image:Lamellar Icthyosis01.jpg|Lamellar Icthyosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
Image:Lamellar Icthyosis02.jpg|Lamellar Icthyosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
Image:Lamellar Icthyosis03.jpg|Lamellar Icthyosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
Image:Lamellar Icthyosis04.jpg|Lamellar Icthyosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
Image:Lamellar Icthyosis05.jpg|Lamellar Icthyosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
Image:Lamellar Icthyosis06.jpg|Lamellar Icthyosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
Image:Lamellar Icthyosis07.jpg|Lamellar Icthyosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
Image:Lamellar Icthyosis08.jpg|Lamellar Icthyosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
Image:Lamellar Icthyosis09.jpg|Lamellar Icthyosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
</gallery>


==See also==
==See Also==
* [[Ichthyosis]]
* [[Ichthyosis]]
* [[Bullous congenital ichthyosiform erythroderma]]
* [[Bullous congenital ichthyosiform erythroderma]]


==External links==
==External Links==
* F.I.R.S.T. - Foundation for Ichthyosis and Related Skin Types at http://www.scalyskin.org/
* F.I.R.S.T. - Foundation for Ichthyosis and Related Skin Types at http://www.scalyskin.org/


{{Congenital malformations and deformations of integument}}
{{Congenital malformations and deformations of integument}}
[[Category:Dermatology]]
[[Category:Dermatology]]
[[Category:Rare diseases]]
[[Category:Rare diseases]]
{{WikiDoc Help Menu}}
{{WikiDoc Sources}}

Latest revision as of 13:25, 8 September 2014

Ichthyosis lamellaris
ICD-10 Q80.2
OMIM 242300
DiseasesDB 30052
eMedicine derm/190 
MeSH D017490

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Kiran Singh, M.D. [2]

Overview

Ichthyosis lammellaris, also known as (recessive) lamellar ichthyosis and nonbullous congenital ichthyosis, is a rare inherited skin disorder, affecting less than 1 person in 300,000.

Pathophysiology

Genetics

Ichthyosis lamellaris has an autosomal recessive pattern of inheritance.

This condition is an autosomal recessive genetic disorder, which means the defective gene is located on an autosome, and both parents must carry one copy of the defective gene in order to have a child born with the disorder. Carriers of a recessive gene usually do not show any signs or symptoms of the disorder.

Ichthyosis lamellaris is associated with a deficiency of the enzyme keratinocyte transglutaminase.

Diagnosis

Symptoms

Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. As the child grows, other symptoms manifest themselves, including rapid nail and hair growth. The skin can be put under tension by the scaling, possibly resulting in small ears, inflexible fingers and ectropion, the turning outwards of the eyelids or lips.

With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.

Physical Examination

Skin

Collodin baby
Lamellar Icthyosis

See Also

External Links

Template:Congenital malformations and deformations of integument

  1. ↑ 1.00 1.01 1.02 1.03 1.04 1.05 1.06 1.07 1.08 1.09 1.10 1.11 1.12 1.13 1.14 "Dermatology Atlas".
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