research Ichthyosis Follicularis With Alopecia and Photophobia
Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
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930-960 / 1000+ resultsresearch Linear Alopecia Areata in a 4-year-old Patient: A Rare Clinical Variant
A 4-year-old had a rare type of hair loss that may have a good outcome.
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 Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research Frontal fibrosing alopecia, just lichen planopilaris?
Frontal Fibrosing Alopecia may be a complex condition linked to hormonal changes in women, not just a form of Lichen Planopilaris.
research Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research Understanding fibrosing alopecia in a pattern distribution: a retrospective study with histological challenges in the diagnosis of diffuse central alopecia
Fibrosing alopecia can be diagnosed without typical signs of lichen planopilaris.
research The Association of Cutaneous Lichen Planus and Metabolic Syndrome: A Case-Control Study
People with cutaneous Lichen Planus are more likely to have Metabolic Syndrome and related conditions like high cholesterol, diabetes, and high blood pressure.
research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
research P042 A rare case of constrictive pericarditis with co-existing positive COVID-19: probable autoimmune or immunoglobulin related disease
An 80-year-old man with COVID-19 also had constrictive pericarditis, possibly due to an autoimmune or immunoglobulin related disease, and improved after surgery.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
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 Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families
Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
research From Misdiagnosis to Targeted Therapy: A Case Report of Folliculitis Decalvans and Lichen Planopilaris Phenotypic Spectrum
Accurate diagnosis is crucial for effective treatment of similar hair loss conditions.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Fibrosing Alopecia in a Pattern Distribution
FAPD and possibly CCCA may be AGA subtypes, and treatments combining antiandrogens, hair growth agents, hair transplants, and anti-inflammatories could be effective.
research Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color
Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
research Modern trends in the variability of the mechanisms of formation and principles of diagnosis – Ganser syndrome
Ganser syndrome may result from both organic and psychogenic factors.
research Exploring the frequency and autoimmune associations of lichen planopilaris
Lichen planopilaris is rare, mostly affects older women, and is often linked to autoimmune diseases like lupus.
research Neuropsychiatric Systemic Lupus Erythematosus Presenting as Bipolar I Disorder With Catatonic Features
A girl initially thought to have a psychiatric disorder was later found to have a lupus-related condition, which improved with proper treatment.
research Fibrosing Alopecia in a Pattern Distribution
Some people with pattern hair loss may also have scalp inflammation and scarring similar to lichen planopilaris.
research Congenital atrichia with papular lesions: a rare cause of irreversible childhood alopecia
Congenital atrichia with papular lesions causes permanent hair loss in children.
research Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic variants in specific genes cause central centrifugal cicatricial alopecia.
research Frontal fibrosing alopecia and genital Lichen sclerosus: Single‐center experience
Frontal fibrosing alopecia may be linked to genital Lichen sclerosus through an autoimmune process.
research Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
research Unique Dermatological and Systemic Manifestations in a Classic Pediatric Case of Kindler Syndrome: A Case Report and Literature Review
Kindler Syndrome shows diverse symptoms and needs better diagnostic tools and care in resource-limited areas.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Lichen Planopilaris in Skin of Color: A Case Report
Lichen planopilaris should be considered when diagnosing hair loss in people with darker skin as it may be often missed.
research Atrichia With Papular Lesions
The condition is likely inherited in an autosomal-dominant pattern.
research 1368 Does mitochondrial dysfunction drive immune privilege collapse in lichen planopilaris pathogenesis?
Mitochondrial dysfunction may contribute to chronic inflammation and immune system issues in Lichen planopilaris.