research Lichen Planopilaris
Lichen Planopilaris is a hair loss condition best treated early with various medications, including hydroxychloroquine, to prevent permanent baldness.
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research Atrichia with Papular Lesions: Dermoscopy to the Rescue
Dermoscopy is useful for diagnosing Atrichia with Papular Lesions in children without needing a biopsy.
research Das Trichorhinophalangealsyndrom
Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
research Polymorphism of CAG and GGN repeats of androgen receptor gene in women with polycystic ovary syndrome
Longer GGN repeats in the androgen receptor gene are linked to polycystic ovary syndrome.
research A General Paediatric Approach to Ankyloblepharon–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome in Infancy: A Case Report
Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
research Granular Parakeratosis of the Eccrine Ostium: A Case Report
Accurate diagnosis of granular parakeratosis is crucial for effective treatment and improvement.
research Genetics of Progeria and Aging
Progeria, a disease that causes early aging, is linked to a gene mutation and helps us understand normal aging.
research A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome?
The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
research Scarring Alopecia With Coexisting Lichen Planus in a Child: A Rare Phenomenon
A child had a rare case of scarring hair loss with skin disease, which is hard to treat and stressful.
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 Expression and Function of Group IIE Phospholipase A2 in Mouse Skin
sPLA2-IIE is crucial for normal hair follicle structure and skin health.
research Paraproteinemic keratopathy: recognizing the ocular significance
Paraproteinemic keratopathy can show eye symptoms before other signs of disease, needing careful treatment and long-term follow-up.
research Central Frontoparietal Band-Like Alopecia in a 40-Year-Old Woman
A woman's hair loss was correctly diagnosed as Lichen planopilaris after initial misdiagnosis, highlighting the usefulness of trichoscopy in diagnosing hair disorders.
research Autosomal recessive hereditary hypotrichosis simplex: A case report
A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
research Lichen Planopilaris in Children: A Systematic Review
Lichen planopilaris can cause patchy hair loss in children and may respond to certain treatments.
research Cutaneous Manifestations of Mucopolysaccharidoses
People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Heterogeneous disease: A child case of lichen planus pemphigoides triggered by varicella
A child's rare skin disease was triggered by chickenpox.
research PC038: A rare case of strawberry gingivitis associated with Granulomatosis with polyangiitis - GPA (Wegener granulomatosis)
A patient with "strawberry gingivitis" improved after correct treatment for Granulomatosis with polyangiitis, highlighting the need for early diagnosis.
research Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma
A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
research Pyoderma gangrenosum presented as generalized pustules in a patient with Crohn’s disease
Recognizing unusual symptoms in Crohn's disease is crucial for proper treatment.
research The IVIG treatment response in autoimmune polyendocrine syndromes type 2 with anti-GAD65 antibody-associated stiff person syndrome: a case report and literature review
IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.
research Different Patterns of Lichen Planus in Three Members of One Family
Lichen Planus in siblings may be influenced by genetics and environment.
research Reversible Vision Loss With Pituitary Microadenoma Following PRP Injection for Hair Growth: A Rare Case Report and a Mini‐Review of the Literature
PRP injection for hair growth can cause reversible vision loss due to inflammatory optic neuropathy.
research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research Lichen Planopilaris: Update on Diagnosis and Treatment
New insights show Lichen Planopilaris is a rare, scarring hair loss condition, hard to treat, mainly affecting middle-aged women, and significantly impacts mental health.
research Diffuse variants of scalp lichen planopilaris: Clinical, trichoscopic, and histopathologic features of 40 patients
A new variant of lichen planopilaris causing diffuse hair thinning was identified.
research 236 Wnt/planar cell polarity impairment and the genetics of yellow nail syndrome
Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
research GLOMERULAR MEMBRANOUS NEPHROPATHY AND WERNER SYNDROME: A CASE REPORT
A potential genetic link between Werner syndrome and kidney disease was suggested.
research GWAS Identifies Three Susceptibility Loci for Trichilemmal Cysts
Three genes linked to the development of trichilemmal cysts were found.