Publications by authors named "A Hotz"
Article Synopsis
- Keratosis palmoplantaris striata type I (SPPK-I) is a rare genetic skin condition marked by painful, thickened areas on palms and soles, often due to mutations in the desmoglein-1 gene.
- Patients experience hyperkeratotic plaques and painful fissures, but existing treatments like salicylic vaseline and corticosteroids do not provide effective relief.
- A case study highlights a specific genetic variant linked to SPPK-I, yet the search for effective treatments continues due to the limited options available for this disorder.*
Article Synopsis
- The study identified a new gene variant in NKPD1 linked to generalized lamellar ichthyosis among a family, enhancing the understanding of genetic factors in skin disorders.
- This variant was confirmed to segregate with the disease in affected individuals, providing strong genetic evidence for its involvement.
- Findings revealed NKPD1's potential role in skin lipid barrier formation and ceramide metabolism, differing from the previously known ASPRV1 association with autosomal dominant lamellar ichthyosis.
Article Synopsis
- Erythrokeratodermia variabilis (EKV) is a rare skin disorder marked by red patches and thickened skin plaques, usually inherited in an autosomal dominant pattern.
- Traditionally, EKV was linked to mutations in connexin genes, but recent findings show other rare gene mutations can also cause the condition.
- A study of seven patients with an EKV-like appearance found they had mutations linked to autosomal recessive congenital ichthyosis (ARCI), suggesting that ARCI should be considered when diagnosing EKV.
Background: Achieving surgical autonomy can be considered the ultimate goal of surgical training. Innovative head-mounted augmented reality (AR) devices enable visualization of the operating field and teaching from remote. Therefore, utilization of AR glasses may be a novel approach to achieve autonomy.
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