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Glossary Genodermatosis

inherited skin disorder caused by genetic mutations

Genodermatosis refers to a group of inherited skin disorders caused by genetic mutations. These conditions can affect the skin, hair, and nails, and often present from birth or early childhood. Examples include conditions like epidermolysis bullosa and neurofibromatosis.

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30 / 443 results

research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities

36 citations , January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology”

This article reviews the connection between PI3K-AKT-mTOR pathway mutations and heritable skin diseases characterized by tissue overgrowth, but it reports no new clinical results.

Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center Within the Middle East and North Africa Region

research Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region

January 2025 in “Dermatology Practical & Conceptual”

In this study, researchers identified four gene variants that may contribute to androgenic alopecia and vitiligo, proposing a novel di-genic inheritance model that could help guide genomic approaches for personalized treatment and early diagnosis.

research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm

26 citations , December 2011 in “Journal of Investigative Dermatology”

This review discusses major advances in understanding inherited hair diseases through genetic research and reports no new clinical results; the authors emphasize the potential for new preventive and therapeutic tools.

research Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses

23 citations , November 2001 in “Archives of Dermatology”

This review discusses recent advances in the genetic understanding of inherited hair and nail disorders and reports no new clinical results.

research Corneodesmosomes and corneodesmosin: from the stratum corneum cohesion to the pathophysiology of genodermatoses

83 citations , May 2011 in “European Journal of Dermatology”

This review discusses the role of corneodesmosin in skin and hair follicle integrity, with mentions of its link to hypotrichosis simplex and peeling skin disease, and reports no new results.

research Male fertility and skin diseases

12 citations , June 2016 in “Reviews in Endocrine and Metabolic Disorders”

This review discusses various genetic and acquired skin diseases that can affect male fertility, highlighting the clinical management challenges and reports no new research findings.

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 Generalized Congenital Hypotrichosis in a Female Rottweiler

6 citations , June 1993 in “Veterinary Dermatology”

This case report describes a female Rottweiler with generalized congenital hypotrichosis, where most skin biopsies showed a complete absence of follicular development, marking only the second documented case of this genodermatosis in female dogs.

research Pediatric dermatoses pattern at a Brazilian reference center

6 citations , March 2020 in “Jornal de Pediatria”

This study found that inflammatory dermatoses, especially atopic dermatitis, were the most common pediatric skin conditions at a Brazilian reference center, highlighting different patterns compared to adult skin disorders.

research A 40-Year-Old Woman With Facial Papules and Flank Pain

2 citations , May 2006 in “Archives of Pathology & Laboratory Medicine”

This case report describes a 40-year-old woman with Birt-Hogg-Dubé syndrome diagnosed with multiple chromophobe renal cell carcinomas, highlighting the importance of recognizing associated dermatologic lesions for early intervention.

research Vulvovaginal involvement in Netherton syndrome: A case report

January 2024 in “JAAD case reports”

Netherton syndrome can cause severe and chronic vulvovaginal symptoms that may improve with continuous oral contraceptives.

research Rothmund‐Thomson syndrome type 2 – a rare cause of chronic wounds

March 2019 in “Journal der Deutschen Dermatologischen Gesellschaft”

This clinical letter identifies Rothmund-Thomson syndrome type 2 as a rare cause of chronic wounds, but provides no new experimental findings.

research Painful thickened skin on the soles of the feet

September 2022 in “JAAD case reports”

This case study of a 45-year-old man from Tonga describes the identification of pachyonychia congenita through genetic testing, revealing a mutation in the keratin gene KRT16, associated with chronic painful skin and nail conditions.

research Botulinum Toxin Off-Label Use in Dermatology: A Review

53 citations , January 2017 in “Skin appendage disorders”

This review discusses botulinum toxin's experimental off-label uses in dermatology, highlighting promising results but emphasizing the need for more clinical trials to confirm efficacy and safety.

research Harnessing neuroendocrine controls of keratin expression: A new therapeutic strategy for skin diseases?

26 citations , May 2014 in “BioEssays”

This review discusses how neuroendocrine pathways influence keratin regulation in human skin and hair follicles and suggests these pathways as potential targets for new treatments of skin disorders, but reports no clinical results.

research Overexpression of human keratin 16 produces a distinct skin phenotype in transgenic mouse skin

25 citations , September 1995 in “Biochemistry and Cell Biology”

This study found that high levels of human cytokeratin 16 expression in transgenic mice lead to skin lesions and altered keratinocyte structure, suggesting potential implications for human skin disorders and wound healing.

research Spectrum of skin diseases in Yemen (Hajjah and adjacent region)

21 citations , June 2004 in “International Journal of Dermatology”

This study found that over half of skin diseases observed in Yemen, particularly in Hajjah, were dermatitis and eczematous disorders, and infections, suggesting the influence of local socioeconomic and environmental factors.

research Analysis of pediatric dermatology inpatient consultations in a pediatric teaching hospital

10 citations , October 2017 in “Archivos Argentinos De Pediatria”

This study described the range and treatment of skin disorders among pediatric inpatients at a teaching hospital, finding allergic skin diseases as the most common group, primarily diagnosed clinically.

research A review of genotrichoses and hair pathology associated with inherited skin diseases

8 citations , March 2023 in “British Journal of Dermatology”

This review highlights the significant role of next-generation sequencing in uncovering the genetic basis of hair disorders, identifying 28 nonsyndromic conditions linked to specific genes.

research Case Report: A case of Rothmund–Thomson syndrome-like phenotype with an ANAPC1 variant of uncertain significance and observed hair improvement

May 2026 in “Frontiers in Medicine”

This study describes a patient with Rothmund–Thomson syndrome-like symptoms who displayed hair improvement after combination therapy, despite carrying an ANAPC1 gene variant of uncertain significance.

research Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata)

July 2025 in “Journal of Cutaneous Pathology”

In this case report, a newborn with Conradi-Hünermann-Happle syndrome was diagnosed through early skin biopsy, which revealed unique histopathological features, including dystrophic calcifications, confirming a pathogenic variant in the EBP gene.

research Clouston’s syndrome: a rare case report

August 2020 in “International Journal of Research in Dermatology”

This report describes a 23-year-old male with Clouston’s syndrome, characterized by nail abnormalities, palmoplantar skin thickening, anodontia, and androgenic alopecia, highlighting the need for supportive management due to the lack of a definitive treatment.

research Keratin gene mutations in disorders of human skin and its appendages

185 citations , December 2010 in “Archives of Biochemistry and Biophysics”

Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.

research The Human Type II Keratin Gene Cluster on Chromosome 12q13.13: Final Count or Hidden Secrets?

9 citations , February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology”

This review discusses the complexity and genetic organization of human keratin gene clusters and addresses the ongoing need for an updated unified naming system; it reports no new clinical results.

research Treatment of monilethrix with oral minoxidil

37 citations , May 2016 in “JAAD case reports”

This abstract describes monilethrix, an autosomal dominant genodermatosis with symptoms like hair fragility and keratosis pilaris, and does not report new experimental results.

research Generalized multiple eruptive milia in an infant – An unusual presentation

January 2022 in “Indian journal of paediatric dermatology”

This case report details an unusual instance of multiple eruptive milia in an otherwise healthy 3-month-old baby, characterized by widespread distribution and believed to be idiopathic due to the absence of associated genodermatoses.

research Keratosis Follicularis Spinulosa Decalvans: Diagnosis and Therapeutic Evaluation.

1 citations , January 2015 in “Journal of clinical case reports”

This case report describes two siblings with Keratosis Follicularis Spinulosa Decalvans, illustrating its manifestations in a 9-year-old boy and a 5-year-old girl.

research A newborn presenting with congenital blistering

7 citations , April 2004 in “International Journal of Dermatology”

This report describes a case of epidermolytic hyperkeratosis in a newborn and her mother, both possessing a specific KRT1 gene mutation known to cause this skin disorder.

research DERMATOLOGIC DISEASES AND PROBLEMS OF WOMEN THROUGHOUT THE LIFE CYCLE

18 citations , June 1995 in “International Journal of Dermatology”

Women experience various skin issues at different life stages, requiring careful treatment and awareness.

research Molecular basis of congenital atrichia in humans and mice.

15 citations , October 1999 in “PubMed”

This review discusses molecular genetic approaches to understanding and treating hair loss disorders like papular atrichia, highlighting potential future gene-based therapies, but reports no new clinical findings.