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GlossaryGenodermatosis

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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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”

The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.

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”

A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.

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

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

New gene identification techniques have improved the understanding and classification of inherited hair disorders.

research Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses

23 citations , November 2001 in “Archives of Dermatology”

Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.

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

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

Corneodesmosin is crucial for skin and hair health, and its dysfunction can cause skin and hair disorders.

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”

A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.

research Generalized Congenital Hypotrichosis in a Female Rottweiler

6 citations , June 1993 in “Veterinary Dermatology”

A female Rottweiler had a rare genetic condition causing mostly hairless skin.

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

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

Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.

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”

Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.

research Painful thickened skin on the soles of the feet

September 2022 in “JAAD case reports”

The man has a genetic skin condition called pachyonychia congenita.

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

53 citations , January 2017 in “Skin appendage disorders”

Botulinum toxin shows promise for various skin conditions but requires more research for confirmation and standardized use.

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

26 citations , May 2014 in “BioEssays”

Using neurohormones to control keratin can lead to new skin disease treatments.

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

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

High levels of human keratin 16 in mice cause skin lesions and abnormal skin development.

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

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

Most skin diseases in Hajjah, Yemen, were dermatitis, infections, and acne, influenced by 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”

Most hospitalized children with skin issues were boys, with allergic skin diseases like atopic dermatitis being most common, and treatments were usually topical.

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

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

Next-generation sequencing greatly improves understanding and treatment of genetic hair disorders.

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

July 2025 in “Journal of Cutaneous Pathology”

Early skin biopsy is crucial for diagnosing Conradi-Hünermann-Happle syndrome.

research Clouston’s syndrome: a rare case report

August 2020 in “International Journal of Research in Dermatology”

Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.

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”

The document concludes that the human keratin gene cluster is complex, with a need for updated naming to reflect over 50 functional genes important for hair and skin biology.

research Keratosis Follicularis Spinulosa Decalvans: Diagnosis and Therapeutic Evaluation.

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

KFSD causes scarring hair loss and skin roughness, mainly in males.

research A newborn presenting with congenital blistering

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

The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.

Dermatologic Diseases and Problems of Women Throughout the Life Cycle

research Widespread porokeratotic adnexal ostial nevus: Clinical features and proposal of a new name unifying porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus

60 citations , August 2009 in “Journal of the American Academy of Dermatology”

The term "porokeratotic adnexal ostial nevus" is proposed to unify overlapping skin conditions involving eccrine and hair follicles.

research Porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus: Is nomenclature “porokeratotic adnexal ostial nevus” more appropriate?

4 citations , January 2019 in “Indian Dermatology Online Journal”

The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.

P-19 A Case of Birt-Hogg-Dubé Syndrome Presented With Parathyroid Carcinoma

research P-19 A case of Birt Hogg Dube syndrome presented with parathyroid carcinoma

January 2024 in “JCEM case reports”

This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.