Dermatopathological features and successful treatment with topical antioxidant for ichthyosiform lesions in… | ScholarDeck

Paper

Dermatopathological features and successful treatment with topical antioxidant for ichthyosiform lesions in Mitchell syndrome caused by an ACOX1 variant.

New research · Pathology

The Journal of dermatology · 2w

Case reportThe Journal of dermatology· Mar 2025

Dermatopathological features and successful treatment with topical antioxidant for ichthyosiform lesions in Mitchell syndrome caused by an ACOX1 variant.

Zhuoqing Gong, Sai Yang, Shiqi Ling … Zhimiao Lin

Read paper

DermatopathologyCase reportQ2IF 1.8

Topical N-acetylcysteine cleared ichthyosiform skin lesions in Mitchell syndrome from ACOX1 variant

Dermatopathological features and successful treatment with topical antioxidant for ichthyosiform lesions in Mitchell syndrome caused by an ACOX1 variant.

Zhuoqing Gong … Zhimiao Lin

The Journal of dermatology · Mar 2025 · Q2 in General Medicine

Background

Peroxisomal acyl-CoA oxidase 1 (ACOX1), is a peroxisomal enzyme that catalyzes β-oxidation of very-long-chain fatty acids (very-long-chain fatty acids).

Results

months

complete clearance of skin lesions with sustained topical treatment

More results

The gain-of-function variant p.

Asn237Ser in ACOX1 has been shown to cause Mitchell syndrome (MITCH), a neurodegenerative disorder characterized by episodic demyelination, hearing loss, and polyneuropathy, through the overproduction of hydrogen peroxide.

Only eight cases of MITCH have been reported.

More results

Asn237Ser in ACOX1 and experienced progressive ichthyosiform erythroderma.

“

Conclusion

The successful treatment with topical n-acetylcysteine suggests excessive reactive oxygen species might play a significant role in the pathogenesis of skin lesions in MITCH.

Read paper