# Genetic and rare skin diseases.

**Type:** Topics  
**Canonical URL:** https://scholariq.org/topics/genetic-and-rare-skin-diseases/

## Facts

| Field | Value |
| --- | --- |
| Description | This cluster of papers focuses on genomic rearrangement disorders in skin diseases, particularly related to mutations in NEMO, ATP2C1, and other genes affecting NF-?B activation and calcium pump function. It covers a wide range of conditions such as incontinentia pigmenti, Hailey-Hailey disease, epidermal nevus syndromes, and Darier disease, providing insights into the molecular basis, clinical manifestations, and potential therapeutic targets for these disorders. |
| Domain | Life Sciences |
| Field | Biochemistry, Genetics and Molecular Biology |
| OpenAlex ID | t12355 |
| Works | 41 |

## Topic papers all

Showing 15 of 41.

- [Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility](https://scholariq.org/papers/consensus-reclassification-of-inherited-epidermolysis-bullosa-and-other/)
- [A Novel X-Linked Disorder of Immune Deficiency and Hypohidrotic Ectodermal Dysplasia Is Allelic to Incontinentia Pigmenti and Due to Mutations in IKK-gamma (NEMO)](https://scholariq.org/papers/a-novel-x-linked-disorder-of-immune-deficiency-and-hypohidrotic-ectodermal/)
- [Risk factors for diabetes insipidus in langerhans cell histiocytosis](https://scholariq.org/papers/risk-factors-for-diabetes-insipidus-in-langerhans-cell-histiocytosis/)
- [Juvenile xanthogranuloma: Forms of systemic disease and their clinical implications](https://scholariq.org/papers/juvenile-xanthogranuloma-forms-of-systemic-disease-and-their-clinical/)
- [Fetal DNA in skin of polymorphic eruptions of pregnancy](https://scholariq.org/papers/fetal-dna-in-skin-of-polymorphic-eruptions-of-pregnancy/)
- [Standardization of dermoscopic terminology and basic dermoscopic parameters to evaluate in general dermatology (non‐neoplastic dermatoses): an expert consensus on behalf of the International Dermoscopy Society](https://scholariq.org/papers/standardization-of-dermoscopic-terminology-and-basic-dermoscopic-parameters-to/)
- [Clofarabine salvage therapy in refractory multifocal histiocytic disorders, including Langerhans cell histiocytosis, juvenile xanthogranuloma and Rosai-Dorfman disease](https://scholariq.org/papers/clofarabine-salvage-therapy-in-refractory-multifocal-histiocytic-disorders/)
- [Caroli's disease: Liver resection and liver transplantation. Experience in 33 patients](https://scholariq.org/papers/caroli-s-disease-liver-resection-and-liver-transplantation-experience-in-33/)
- [Langerhans cell histiocytosis in neonates](https://scholariq.org/papers/langerhans-cell-histiocytosis-in-neonates/)
- [Comparison of Mohs Micrographic Surgery and Wide Excision for Extramammary Paget's Disease](https://scholariq.org/papers/comparison-of-mohs-micrographic-surgery-and-wide-excision-for-extramammary-paget/)
- [Using Dermoscopic Criteria and Patient-Related Factors for the Management of Pigmented Melanocytic Nevi](https://scholariq.org/papers/using-dermoscopic-criteria-and-patient-related-factors-for-the-management-of/)
- [Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis](https://scholariq.org/papers/mosaic-activating-mutations-in-fgfr1-cause-encephalocraniocutaneous-lipomatosis/)
- [Social/economic costs and health-related quality of life in patients with epidermolysis bullosa in Europe](https://scholariq.org/papers/social-economic-costs-and-health-related-quality-of-life-in-patients-with/)
- [Histopathology of skin lesions in renal allograft recipients—an assessment of viral features and dysplasia](https://scholariq.org/papers/histopathology-of-skin-lesions-in-renal-allograft-recipients-an-assessment-of/)
- [Long-Term MR Imaging Course of Neurodegenerative Langerhans Cell Histiocytosis](https://scholariq.org/papers/long-term-mr-imaging-course-of-neurodegenerative-langerhans-cell-histiocytosis/)

## Topic primary papers

- [Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis](https://scholariq.org/papers/mosaic-activating-mutations-in-fgfr1-cause-encephalocraniocutaneous-lipomatosis/)
- [Histopathology of skin lesions in renal allograft recipients—an assessment of viral features and dysplasia](https://scholariq.org/papers/histopathology-of-skin-lesions-in-renal-allograft-recipients-an-assessment-of/)
- [Orbital Dermoids in Children](https://scholariq.org/papers/orbital-dermoids-in-children/)
- [Darier disease: A rare genodermatosis](https://scholariq.org/papers/darier-disease-a-rare-genodermatosis/)
- [Three novel mutations in the <i>PORCN</i> gene underlying focal dermal hypoplasia](https://scholariq.org/papers/three-novel-mutations-in-the-i-porcn-i-gene-underlying-focal-dermal-hypoplasia/)
- [Grover’s disease secondary to ribavirin](https://scholariq.org/papers/grover-s-disease-secondary-to-ribavirin/)
- [Photodynamic therapy in disseminated superficial actinic porokeratosis](https://scholariq.org/papers/photodynamic-therapy-in-disseminated-superficial-actinic-porokeratosis/)
- [Linear Psoriasis – A Case Report](https://scholariq.org/papers/linear-psoriasis-a-case-report/)
- [Ocular dermolipoma with congenital mesodermal deformities.](https://scholariq.org/papers/ocular-dermolipoma-with-congenital-mesodermal-deformities/)

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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.