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Glossary Skin Fragility

condition where skin is unusually delicate and easily damaged

Skin fragility refers to a condition where the skin is unusually delicate and prone to damage, such as tearing, blistering, or bruising, even with minimal trauma. This can be due to genetic disorders, aging, or underlying medical conditions that affect the structural integrity of the skin, such as Ehlers-Danlos syndrome or certain types of epidermolysis bullosa. For professionals, understanding the underlying cause is crucial for managing and treating the condition effectively.

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research Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome

31 citations , August 2005 in “The American Journal of Dermatopathology”

This study investigated the histopathology of ectodermal dysplasia/skin fragility syndrome, identifying specific skin and hair abnormalities associated with PKP1 gene mutations in two young female patients.

research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis

8 citations , June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.

research 474 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility

April 2017 in “Journal of Investigative Dermatology”

This study identified that dominant mutations in the KLHL24 gene cause epidermolysis bullosa through dysregulated autoubiquitination, leading to excessive degradation of keratin 14.

research Skin fragility in the wild-derived, inbred mouse strain Mus pahari/EiJ

December 2016 in “Experimental and Molecular Pathology”

This study found that the wild-derived mouse strain Mus pahari has fragile skin that separates at subdermal levels under moderate force, potentially due to altered extracellular matrix development.

research Skin fragility, diffuse ecchymosis and blisters on a yellowish waxy base

April 2016 in “Journal of The American Academy of Dermatology”

A woman's skin symptoms led to a diagnosis of systemic AL amyloidosis, but she died from sepsis shortly after.

Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs

research Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs

28 citations , February 2012 in “PLoS ONE”

In this study, researchers identified a novel congenital skin disorder in Chesapeake Bay retrievers, linked to a plakophilin-1 deficiency due to a genetic mutation, marking the first known occurrence in an animal species.

research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations

11 citations , December 2013 in “Clinical and experimental dermatology”

This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.

research Cryptic Patterning of Avian Skin Confers a Developmental Facility for Loss of Neck Feathering

103 citations , March 2011 in “PLoS Biology”

This study found that a mutation in the BMP12/GDF7 gene is associated with the Naked neck trait in chickens, reducing neck feathering due to altered signaling pathways.

research Skin Keratins

54 citations , November 2015 in “Methods in enzymology on CD-ROM/Methods in enzymology”

This chapter reviews keratins in skin epithelia, including their roles in cellular function and disease, and reports no new experimental results.

research Effects of Skin Lightening Cream Agents – Hydroquinone and Kojic Acid, on the Skin of Adult Female Experimental Rats

46 citations , April 2020 in “Clinical Cosmetic and Investigational Dermatology”

This study found that hydroquinone caused structural damage to the skin of rats, while aloe vera reduced this damage, suggesting potential concerns for its use in skin lightening creams.

research Investigation of age-related decline of microfibril-associated glycoprotein-1 in human skin through immunohistochemistry study

15 citations , December 2013 in “Clinical Cosmetic and Investigational Dermatology”

This study found that levels of the protein MAGP-1, important for skin elasticity, decrease with aging and photoexposure, potentially contributing to skin fragility, sagging, and enlarged pores.

Congenital and Hereditary Skin Diseases in Bovines

research Congenital and Hereditary Skin Diseases

January 2018

This chapter reviews various fungal skin diseases affecting cattle but does not report new research findings; it focuses on rare, inherited, and congenital conditions like follicular dysplasia and cutaneous asthenia.

research Skin diseases associated with Agent Orange and other organochlorine exposures.

April 2016 in “Journal of The American Academy of Dermatology”

Certain skin diseases are linked to Agent Orange and similar chemicals; veterans should be screened and informed about uncertain risks, and current data doesn't link spironolactone with breast cancer.

research The Pathobiology of Skin Aging

122 citations , April 2020 in “American Journal Of Pathology”

This review discusses the multiple factors contributing to skin aging, including cellular changes and environmental influences, and highlights its recognition as a disease with significant implications beyond cosmetic concerns, without reporting new research results.

research Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility

189 citations , July 2009 in “The Journal of clinical investigation/The journal of clinical investigation”

This review discusses how research on keratin biology has enhanced the understanding of epidermolysis bullosa simplex and indicates potential new therapeutic approaches, but it presents no new experimental results.

research The dark and the bright sides of the transcription factor Nrf2 in skin protection and disease (Nrf2 and epidermal barrier function)

August 2015 in “Free Radical Biology and Medicine”

This study found that Nrf2 activation protected keratinocytes from UVB damage but also caused thickening, inflammation, and cysts, limiting its therapeutic potential for skin protection.

research Hyperaldosteronism and Hyperprogesteronism in a Cat

55 citations , August 2009 in “Journal of Feline Medicine and Surgery”

In this case report, a 14-year-old cat was diagnosed with both hyperaldosteronism and hyperprogesteronism linked to a large adrenal tumor, highlighting the importance for clinicians to consider these concurrent conditions in similar cases.

research Generalized atrophic benign epidermolysis bullosa.

51 citations , January 1997 in “PubMed”

This review outlines the genetic basis of GABEB, highlighting reduced type XVII collagen as a distinguishing marker from Herlitz JEB, and discusses potential therapeutic avenues without presenting new results.

research Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex

44 citations , January 2017 in “Journal of Investigative Dermatology”

This study identified KLHL24 as a new gene linked to a subtype of epidermolysis bullosa simplex, highlighting its role in unresolved cases by involving a degradation-resistant truncated protein impacting keratin turnover.

research Familial and Sporadic Porphyria Cutanea Tarda

38 citations , March 2010 in “Medicine”

In this study, researchers found that hepatitis C virus infection is a significant risk factor for sporadic porphyria cutanea tarda, suggesting familial cases might be more prevalent in areas with low hepatitis C infection rates.

research Epidermolysis bullosa in animals: a review

33 citations , October 2014 in “Veterinary Dermatology”

This review discusses the molecular biology, diagnosis, and pathology of epidermolysis bullosa in animals and reports no new clinical findings.

research Inherited epidermolysis bullosa: clinical and therapeutic aspects

32 citations , April 2013 in “Anais Brasileiros de Dermatologia”

This article reviews the diagnosis and management of inherited epidermolysis bullosa and reports no new clinical findings; it emphasizes the importance of clinical and histopathological evaluation.

research Dermatoporosis: a further step to recognition

20 citations , February 2018 in “Journal of the European Academy of Dermatology and Venereology”

This study reported that applying a cream with 5% vitamin C reduced dermatoporosis-related purpura, suggesting the condition may be linked to vitamin C deficiency.

research Cutaneous Toxicities From Transplantation-Related Medications

14 citations , April 2017 in “American Journal of Transplantation”

This review examines nonmalignant skin toxicities from immunosuppressive and transplant-related medications, emphasizing the need for effective identification and management by care providers; it presents no new research findings.

research Porphyria Cutanea Tarda in a Patient With Agnogenic Myeloid Metaplasia

5 citations , April 1984 in “Archives of Dermatology”

This article reviews the characteristics, causes, and types of porphyria cutanea tarda but presents no new findings, focusing instead on existing knowledge about the disorder.

research Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families

3 citations , July 2024 in “Frontiers in Medicine”

This study reports that analyzing the clinical manifestations of different genetic variants in EBS families helps predict disease progression and severity, guide complication risk assessment, and plan necessary medical care.

research Sucessful treatment of feline demodicosis with orally sarolaner Case Report

2 citations , January 2020 in “Brazilian Journal of Veterinary Medicine/Revista Brasileira de Medicina Veterinária”

In this study, sarolaner administered orally proved effective in treating demodectic mange in a naturally infested cat in Brazil, as no mites were observed and skin condition improved after 21 days.

research Clinical symptoms and sex steroid measurements in domestic ferrets (Mustela putorius furo) with hyperadrenocorticism

1 citations , December 2017 in “Research for Rural Development/Research for Rural Development (Online)”

This study found no correlation between clinical signs and sex steroid levels in ferrets with hyperadrenocorticism and noted that androstenedione was elevated in many cases.

research Case of non-Herlitz junctional epidermolysis bullosa withCOL17A1mutation

1 citations , January 2015 in “The Journal of Dermatology”

This letter to the editor presents a case of non-Herlitz junctional epidermolysis bullosa associated with a COL17A1 mutation and reports no new clinical findings.

research PA11 A rare case of a severe papulopustular dermatosis secondary to a germline EGFR mutation

June 2026 in “British Journal of Dermatology”

In this case report, researchers observed a Slovakian neonate with a rare EGFR genetic mutation who presented with severe neonatal dermatoses, ichthyosis, and multisystem complications, emphasizing the significance of genetic diagnosis for such complex conditions.