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[Comèl-Netherton syndrome]

S Blaschke¹, R Möller, I Hausser

¹Hautklinik, am Klinikum Nürnberg-Nord.

Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete

|July 24, 1998

Summary

Comèl-Netherton syndrome, a rare genetic disorder, presents with ichthyosis, hair abnormalities, and atopic diathesis. This case highlights a delayed diagnosis and successful treatment with Acitretin.

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Area of Science:

Dermatology
Clinical Genetics
Rare Diseases

Background:

Comèl-Netherton syndrome is an autosomal recessive genodermatosis.
It is characterized by a triad of ichthyosis linearis circumflexa, trichorrhexis invaginata, and atopic diathesis.

Observation:

A 23-year-old female presented with classic Comèl-Netherton syndrome features.
Diagnosis was delayed over two decades.
Additional findings included mild intellectual disability, genital papillomatosis, hypergammaglobulinaemia, and severe bilateral eyelid ectropion.

Findings:

The patient exhibited ichthyosis linearis circumflexa and trichorrhexis invaginata with unusually long bamboo hairs.
The clinical presentation was complicated by comorbidities not typically emphasized in classical descriptions.
Oral Acitretin therapy demonstrated significant therapeutic success.

Implications:

This case underscores the diagnostic challenges and prolonged latency in Comèl-Netherton syndrome.
It highlights the importance of recognizing atypical presentations and associated conditions.
Successful Acitretin treatment offers a viable therapeutic option for managing severe symptoms.

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