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

More general terms

• ichthyosis; erythrokeratodermia variabilis

Database

• OMIM: https://mirror.omim.org/entry/146590