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Lamellar Vs Harlequin Ichthyosis

Lamellar Ichthyosis and Harlequin Ichthyosis are both autosomal recessive skin disorders present at birth, but they differ significantly in severity and symptoms. Lamellar Ichthyosis features large brown scales and mild systemic involvement, while Harlequin Ichthyosis presents with thick, armor-like scales and severe complications, leading to high neonatal mortality. Prognosis for Lamellar Ichthyosis is chronic but manageable, whereas Harlequin Ichthyosis has a poor neonatal prognosis.

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23 views1 page

Lamellar Vs Harlequin Ichthyosis

Lamellar Ichthyosis and Harlequin Ichthyosis are both autosomal recessive skin disorders present at birth, but they differ significantly in severity and symptoms. Lamellar Ichthyosis features large brown scales and mild systemic involvement, while Harlequin Ichthyosis presents with thick, armor-like scales and severe complications, leading to high neonatal mortality. Prognosis for Lamellar Ichthyosis is chronic but manageable, whereas Harlequin Ichthyosis has a poor neonatal prognosis.

Uploaded by

hunterpreconvo
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Download as PDF, TXT or read online on Scribd
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Lamellar Ichthyosis vs Harlequin Ichthyosis

Feature Lamellar Ichthyosis Harlequin Ichthyosis

Onset At birth (collodion baby) At birth (dramatic presentation)

Genetics TGM1, ALOX12B, CYP4F22, etc. ABCA12 gene mutation

Inheritance Autosomal recessive Autosomal recessive

Skin Appearance Large brown plate-like scales over red skin


Thick, armor-like, hard scales with deep fissures

Face Ectropion, eclabium common Severe ectropion, eclabium, distorted ears

Limbs Contractures can occur Severe contractures, digit hypoplasia/amputatio

Nail & Hair Hair sparse; nails may be dystrophic Nails dystrophic or absent; scalp hair often abse

Systemic Involvement Mild to moderate Severe (feeding problems, infection risk)

Survival Good with supportive care High neonatal mortality

Collodion Membrane Yes, may be present No (armor-like plates instead)

Prognosis Chronic but compatible with life Poor neonatal prognosis

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