research Painful Thickened Skin on the Soles of the Feet
The man has a genetic skin condition called pachyonychia congenita.
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research Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis
FOXN1 gene variants cause low T cells and immune issues from birth.
research Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients With APS-1
Ruxolitinib significantly improves multiple autoimmune conditions in APS-1 patients.
research FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program
The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
research FOXN1 Deficient Nude Severe Combined Immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research Skin Problems in the Long-Distance Runner 2500 Years After the Battle of Marathon
Runners often face skin problems like blisters and infections, and both prevention and early treatment are important.
research Building Models for Keratin Disorders
Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
research Epstein-Barr Virus Associated with High-Grade B-Cell Lymphoma in Severe Combined Immunodeficiency
A boy with severe immune deficiency and Epstein-Barr virus died from high-grade B-cell lymphoma.
research An Unusual Case of Diarrhea, Dysgeusia, and Grainy and Nodular Mucosa
A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.
research Ichthyosiform Erythroderma: A Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research Patients with Compound Heterozygous Mutations in Forkhead Box N1 Have Severe Immunodeficiency While Maintaining Normal Skin and Hair Development
Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.
research A Rare Case of Woolly Hair with Unusual Associations
The document reports a unique case of woolly hair with a combination of conditions not previously seen together.
research Cronkhite-Canada Syndrome: A Rare Disease Presenting with Dermatological and Gastrointestinal Manifestations
A patient with Cronkhite-Canada syndrome improved with nutritional support and steroids, but early diagnosis is key due to high mortality.
research Cutaneous Reactions to Chemotherapeutic Agents
Chemotherapy can cause various skin problems, and recognizing them helps improve patient care.
research A Case Report of Cronkhite-Canada Syndrome Complicated by Membranous Nephropathy
Rituximab may be an effective treatment for Cronkhite-Canada syndrome with kidney disease.
research Dermatopathia Pigmentosa Reticularis with Salzmann’s Nodular Degeneration of Cornea: A Rare Association
An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
research Olmsted Syndrome: A Rare Keratinization Disorder
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
research Two Cases of the Rare Cronkhite-Canada Syndrome
Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research A Patient With Cronkhite-Canada Syndrome Whose Entire Digestive Tract Was Examined Endoscopically
Prednisolone improved symptoms in a woman with Cronkhite-Canada syndrome, but regular screenings are needed due to cancer risk.
research Nail Whispers Revealing Dermatological and Systemic Secrets: An Analysis of Nail Disorders Associated With Diverse Dermatological and Systemic Conditions
Nails can reveal important health information about skin and body conditions.
research Nail Disorders
Different nail disorders are treated by targeting their specific causes and using appropriate medications or protective measures.
research Nail Changes in Patients with Graft-Versus-Host Disease
Patients with graft-versus-host disease often have nail changes related to the nail matrix, with severity not linked to skin condition.
research Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses
Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
research Nail Involvement in Alopecia Areata: A Questionnaire-Based Survey on Clinical Signs, Impact on Quality of Life, and Review of the Literature
Most people with alopecia areata have nail changes, which are common but don't greatly affect their quality of life.
research Nail Abnormalities in Patients with Vitiligo
Vitiligo patients often have nail problems, so checking their nails is important.
research Nail Involvement in Patients with Moderate-to-Severe Alopecia Areata Treated with Oral Tofacitinib
Tofacitinib improves nail conditions in patients with severe hair loss and does not affect hair regrowth.
research Nail Loss After Teriflunomide Treatment: A New Potential Adverse Event
Nail loss may be a side effect of the MS drug teriflunomide.
research Clinico-Etiological Study of Nail Disorders at a Tertiary Care Center in Maharashtra, India
Nail disorders are often related to jobs like housework and manual labor, with cosmetic issues being the main concern, and are commonly caused by skin diseases like psoriasis.
research Nail Hyperpigmentation Following Valproic Acid Use: A Rare Case Report
Valproic acid can rarely cause reversible nail discoloration.