research A Forty-Two-Year-Old Male with Multiple Gastrointestinal Polyps, Cutaneous Manifestations, and Nail Dystrophy
The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.
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360-390 / 1000+ results research A small multigene hydroxyproline-O-galactosyltransferase family functions in arabinogalactan-protein glycosylation, growth and development in Arabidopsis
Three genes in Arabidopsis are important for plant growth and development by affecting sugar attachment to proteins.
research Lichen Planopilaris: The Alopecia We Cannot Overlook
Early diagnosis and treatment of Lichen Planopilaris are crucial to prevent permanent hair loss.
research Novel insights into cardiocutaneous syndromes
Understanding genetics is crucial for treating heart and skin diseases.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
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 Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report
A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research Familial and Sporadic Porphyria Cutanea Tarda
Most patients with Porphyria Cutanea Tarda had skin blisters and were often affected by hepatitis C and alcohol abuse, with differences between familial and sporadic cases.
research A 61-year-old Filipino man with lichen planus concomitant with cicatricial alopecia, mimicking discoid lupus erythematosus
A 61-year-old Filipino man had a skin condition that looked like another disease, making diagnosis difficult.
research A comparison of self-reported signs of facial aging among women in Australia vs. those in the United States, United Kingdom, and Canada
Women in Australia report different signs of facial aging compared to women in the US, UK, and Canada; men with Lichen planopilaris often have hormonal abnormalities and thyroid disease.
research Identification of novel mutation in theHRgene responsible for atrichia with papular lesions in a Pakistani family
Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
research Medical comorbidities in patients with lichen planopilaris, a retrospective case–control study
People with Lichen Planopilaris are more likely to have autoimmune diseases, especially Systemic Lupus Erythematosus, and less likely to have diabetes and some other common conditions.
research Graft versus host disease–like: A new paraneoplastic syndrome
A woman with thymoma developed a rare chronic condition similar to graft versus host disease after surgery.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Alopecic Patches on the Extremities of a Young Man
Lichen planopilaris can cause hair loss on limbs, not just the scalp.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Loose anagen syndrome in one identical twin girl
One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.
research Basaloid follicular hamartoma, total body hair loss and SLE
Aggressive SLE treatment helped hair regrowth and improved oral plaque, but scalp lesions stayed.
research BH06 (P100) Dermoscopy and clinicohistopathological profile of lichen planopilaris restricted to the face: a case series of six unusual cases
Facial lichen planopilaris may be triggered by shaving and mustard oil, and early detection is crucial for better treatment outcomes.
research A Case of Pityriasis Rubra Pilaris Associated with Myasthenia Gravis
Pityriasis rubra pilaris can occur with myasthenia gravis.
research Linear immunoglobulin A/immunoglobulin G bullous dermatosis associated with Vogt-Koyanagi-Harada disease
A man had two rare autoimmune diseases that might be connected.
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Diffuse Lichen Planopilaris Masquerading as Diffuse Alopecia Areata
A woman's hair loss was misdiagnosed as alopecia areata but was actually lichen planopilaris, needing immediate and ongoing treatment.
research LPA-producing enzyme PA-PLA1α regulates hair follicle development by modulating EGFR signalling
The enzyme PA-PLA1α is important for proper hair follicle development.
research Bloom's syndrome–‐a first report from India
A 6-year-old boy in India was diagnosed with Bloom's syndrome, showing growth and developmental issues, and skin problems worsened by sunlight.
research Functionally enhanced placenta-derived mesenchymal stem cells inhibit adipogenesis in orbital fibroblasts with Graves’ ophthalmopathy
Enhanced stem cells from the placenta can reduce fat buildup in eye tissue for Graves' disease.
research Platelet-rich plasma as a novel treatment for lichen planopillaris
Platelet-rich plasma may successfully treat lichen planopillaris, as shown by one patient's symptom regression.
research A girl with loose anagen hair syndrome and concurrent uncombable hair syndrome
A girl had two rare hair conditions that helped understand their overlap.
research Novel compound heterozygous mutations in thedesmoplakingene cause hair shaft abnormalities and culminate in lethal cardiomyopathy
Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.