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ichthyosis hystrix Curth-Macklin type
Genetics:
- associated with defects in KRT1
Clinical manifestations:
- severe verrucous hyperkeratosis
- affected individuals manifest congenital verrucous black scale on the scalp, neck, & limbs with truncal erythema, palmoplantar keratoderma & keratoses on the lips, ears, nipples & buttocks
General
ichthyosis; erythrokeratodermia variabilis
Database Correlations
OMIM 146590
References
OMIM :accession 146590