# Dermatological and Skeletal Disorders

**Type:** Topics  
**Canonical URL:** https://scholariq.org/topics/dermatological-and-skeletal-disorders/

## Facts

| Field | Value |
| --- | --- |
| Description | This cluster of papers focuses on genetic disorders such as Pseudoxanthoma Elasticum, Arterial Calcification, and Osteopoikilosis, caused by mutations in genes like ABCC6, ENPP1, and TGF-ß1. These mutations lead to ectopic mineralization and connective tissue abnormalities, contributing to the understanding of genetic heterogeneity and clinical manifestations of these diseases. |
| Domain | Life Sciences |
| Field | Biochemistry, Genetics and Molecular Biology |
| OpenAlex ID | t12924 |
| Works | 70 |

## Topic papers all

Showing 15 of 70.

- [The 2017 international classification of the Ehlers–Danlos syndromes](https://scholariq.org/papers/the-2017-international-classification-of-the-ehlers-danlos-syndromes/)
- [Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009](https://scholariq.org/papers/revised-nomenclature-and-classification-of-inherited-ichthyoses-results-of-the/)
- [The Natural History of Primary Hyperparathyroidism with or without Parathyroid Surgery after 15 Years](https://scholariq.org/papers/the-natural-history-of-primary-hyperparathyroidism-with-or-without-parathyroid/)
- [Genotype and Phenotype of Transthyretin Cardiac Amyloidosis](https://scholariq.org/papers/genotype-and-phenotype-of-transthyretin-cardiac-amyloidosis/)
- [Vutrisiran in Patients with Transthyretin Amyloidosis with Cardiomyopathy](https://scholariq.org/papers/vutrisiran-in-patients-with-transthyretin-amyloidosis-with-cardiomyopathy/)
- [Update on morphea](https://scholariq.org/papers/update-on-morphea/)
- [Normocalcemic Primary Hyperparathyroidism: Further Characterization of a New Clinical Phenotype](https://scholariq.org/papers/normocalcemic-primary-hyperparathyroidism-further-characterization-of-a-new/)
- [Patisiran Treatment in Patients with Transthyretin Cardiac Amyloidosis](https://scholariq.org/papers/patisiran-treatment-in-patients-with-transthyretin-cardiac-amyloidosis/)
- [239th ENMC International Workshop: Classification of dermatomyositis, Amsterdam, the Netherlands, 14–16 December 2018](https://scholariq.org/papers/239th-enmc-international-workshop-classification-of-dermatomyositis-amsterdam/)
- [Cost-Effectiveness of Tafamidis Therapy for Transthyretin Amyloid Cardiomyopathy](https://scholariq.org/papers/cost-effectiveness-of-tafamidis-therapy-for-transthyretin-amyloid-cardiomyopathy/)
- [The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers–Danlos syndrome](https://scholariq.org/papers/the-type-of-variants-at-the-col3a1-gene-associates-with-the-phenotype-and/)
- [Peripheral vascular calcification in long-haemodialysis patients: associated factors and survival consequences](https://scholariq.org/papers/peripheral-vascular-calcification-in-long-haemodialysis-patients-associated/)
- [Mitochondrial reactive oxygen species promote p65 nuclear translocation mediating high-phosphate-induced vascular calcification in vitro and in vivo](https://scholariq.org/papers/mitochondrial-reactive-oxygen-species-promote-p65-nuclear-translocation/)
- [Exome Sequencing Identifies SLCO2A1 Mutations as a Cause of Primary Hypertrophic Osteoarthropathy](https://scholariq.org/papers/exome-sequencing-identifies-slco2a1-mutations-as-a-cause-of-primary-hypertrophic/)
- [Localized scleroderma in adults and children. Clinical and laboratory investigations on 239 cases.](https://scholariq.org/papers/localized-scleroderma-in-adults-and-children-clinical-and-laboratory/)

## Topic primary papers

- [Acquired reactive perforating collagenosis: four patients with a giant variant treated with allopurinol](https://scholariq.org/papers/acquired-reactive-perforating-collagenosis-four-patients-with-a-giant-variant/)
- [Photodynamic therapy (PDT) using verteporfin for juxtafoveal choroidal neovascularisation (CNV) in angioid streaks (AS) associated with pseudoxanthoma elasticum: 40 months results](https://scholariq.org/papers/photodynamic-therapy-pdt-using-verteporfin-for-juxtafoveal-choroidal/)
- [Tratamento cirúrgico de tumor de buschke‐lowenstein com retalho cutâneo bilateral e revisão de literatura](https://scholariq.org/papers/tratamento-cirurgico-de-tumor-de-buschke-lowenstein-com-retalho-cutaneo/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.