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ichthyosis hystrix of Curth-Macklin

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK).
Uniprot Description A genodermatosis with severe verrucous hyperkeratosis. Affected individuals manifest congenital verrucous black scale on the scalp, neck, and limbs with truncal erythema, palmoplantar keratoderma and keratoses on the lips, ears, nipples and buttocks.
Mondo Term and Equivalent IDs
MONDO:0007808:  ichthyosis hystrix of Curth-Macklin
GARD:0002954: 
MESH:C536088: 
Orphanet:79503: 
SCTID:254170001: 
UMLS:C1840296: