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Related Experiment Video

Updated: Mar 17, 2026

High-throughput Fluorometric Measurement of Potential Soil Extracellular Enzyme Activities

High-throughput Fluorometric Measurement of Potential Soil Extracellular Enzyme Activities

Published on: November 15, 2013

[Not Available].

A C M Kool¹, M Houtappel, L H P M Filippini

¹VUmc, afd. Huisartsgeneeskunde, Amsterdam.

Nederlands Tijdschrift Voor Geneeskunde

|July 21, 2016

Summary

This summary is machine-generated.

A collodion baby with congenital ichthyosis, recessive type 1, experienced severe skin and systemic issues at birth. Symptoms significantly improved by 12 months, indicating potential for long-term recovery.

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Area of Science:

Genetics
Dermatology
Neonatology

Background:

Congenital ichthyosis is a rare group of skin disorders characterized by dry, thickened, and scaly skin.
Collodion ichthyosis is a severe form presenting at birth with a generalized membrane-like layer.
Genetic mutations are the underlying cause of various ichthyosis subtypes.

Observation:

The newborn presented with tight, dry skin, multiple fissures, eclabium (everted lip), and ectropion (everted eyelids).
Respiratory compromise and impaired thermoregulation were noted, typical of severe collodion ichthyosis.
The patient was clinically described as a 'collodion baby'.

Findings:

Genetic investigation confirmed the diagnosis of congenital ichthyosis, recessive type 1 (Ichthyosis Vulgaris, ARCI).
The patient exhibited significant improvement in skin symptoms by 12 months of age.
This suggests a potentially favorable prognosis for some cases of ARCI.

Implications:

Early genetic diagnosis is crucial for understanding the prognosis and management of congenital ichthyosis.
The case highlights the variability in disease presentation and progression in recessive congenital ichthyosis.
Further research into genetic subtypes and therapeutic interventions could improve outcomes for affected infants.