research Olmsted Syndrome: A Rare Keratinization Disorder
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
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research Clinical and Molecular Genetic Studies in Hereditary Hair Loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research Hypotrichosis in a Child with Olmsted Syndrome
A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Papillon-Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature
Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.
research Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency
Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
research Congenital Atrichia and Hypotrichosis
The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
research Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
research Dermatopathia Pigmentosa Reticularis: A Rare Reticulate Pigmentary Disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research IL-17 Axis Is a Significant Driver of Skin Inflammation in CARD14 Mutant Pityriasis Rubra Pilaris Model Mice
Blocking IL-17 can reduce skin inflammation in a mouse model of pityriasis rubra pilaris.
research Regulation of Keratin 9 in Nonpalmoplantar Keratinocytes by Palmoplantar Fibroblasts Through Epithelial-Mesenchymal Interactions
Nonpalmoplantar skin cells can be made to express keratin 9 by interacting with palmoplantar fibroblasts.
research Adalimumab-Induced Scalp Psoriasis with Severe Alopecia
Stopping adalimumab and starting methotrexate with topical treatments improved the woman's scalp psoriasis and hair regrew.
research Woolly Hair in Two Siblings
Two siblings have a rare genetic condition causing curly, coarse hair.
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
research Building Models for Keratin Disorders
Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
research Characterizing Disease Features and Other Medical Diagnoses in Patients With Pityriasis Rubra Pilaris
PRP patients show varied symptoms and need more research to understand related conditions.
research Different Applications of Monochromatic Excimer Light in Skin Diseases
Excimer light effectively treats various skin diseases, including psoriasis, vitiligo, and mycosis fungoides.
research Novel Biallelic RIPK4 Mutations Cause Ectodermal Dysplasia with Cutaneous Syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
research Oral Treatment of Keratinizing Disorders of Skin and Mucous Membranes With Etretinate
Etretinate was effective for certain skin conditions, but caused side effects like chapped lips, dry mucous membranes, and hair loss.
research RSPO1-Mutated Keratinocytes From Palmoplantar Keratoderma Display Impaired Differentiation and Invasiveness: Implications for Squamous Cell Carcinoma Susceptibility in Patients With 46XX Disorder of Sexual Development
RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research Tumor Necrosis Factor-Alpha Inhibitor Associated Psoriasiform Alopecia (Drug-Induced Psoriasiform Alopecia)
Some patients on anti-TNF drugs experience a type of hair loss called TAIAPA.
research Disorders of Keratinization
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
research The Spectrum of Cutaneous Adverse Events During Encorafenib and Binimetinib Treatment in B-Rapidly Accelerated Fibrosarcoma-Mutated Advanced Melanoma
The combination of encorafenib and binimetinib caused few skin issues.
research Challenging Regional Psoriasis and Ustekinumab Biotherapy: Impact of the Patterns of Disease
Ustekinumab might work for severe psoriasis, but more research is needed to be sure.
research Clouston’s Syndrome: A Rare Case Report
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 Ichthyosis Follicularis With Alopecia And Photophobia Syndrome With Coexisting Palmoplantar Keratoderma Treated With Acitretin
A girl with a rare skin condition improved after one month of treatment with acitretin.
research DSP c.6310delA p.(Thr2104Glnfs*12) Associates With Arrhythmogenic Cardiomyopathy, Increased Trabeculation, Curly Hair, and Palmoplantar Keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research Oral Dysbiosis in Palmoplantar Pustulosis Patients with Arthro-Osteosis
People with palmoplantar pustulosis, especially with bone issues, have different mouth bacteria compared to healthy people.
research Circumscribed Juvenile Pityriasis Rubra Pilaris in a 5-Year-Old Girl Treated with Topical Keratolytic and Steroid
A 5-year-old girl with a rare skin disorder was effectively treated with skin creams instead of oral medication.