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.
Search
for
Sort by
Research
450-480 / 1000+ resultsresearch A rare clinical image of hypertrichosis (Werewolf syndrome)
Hypertrichosis causes excessive hair growth and needs psychological support due to its impact on self-esteem.
research 9. Immunology and Genetics
The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
research Progeria (Hutchinson-Gilford Syndrome): Literature Review and Clinical Case
Progeria causes early aging due to a gene mutation, affecting skin, bones, and heart, with treatments aimed at improving life quality.
research Gomez–Lopez-Hernandez Syndrome: Two New Cases and Review of the Literature
The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
research Failure of Fresh Plasma in Leiner Disease
Fresh plasma transfusions did not help treat Leiner disease in an infant.
research Erythromelanosis follicularis faciei in women
Erythromelanosis follicularis faciei can also affect women, though it's rare.
research Bilateral vocal cords palsy in adolescent Systemic Lupus Erythematosus patient
A 17-year-old girl with lupus had vocal cord paralysis but improved with treatment.
research Epidermal Nevi
Epidermal nevi are skin cell clusters linked to various syndromes.
research E031 Retinal vasculitis with Libman-Sacks endocarditis as presenting features of a systemic lupus erythematosus with antiphospholipid antibody syndrome patient
A young woman with visual issues and other symptoms was diagnosed with lupus and antiphospholipid syndrome, and improved with treatment.
research Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant
A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.
research Ehlers-Danlos syndrome: From bedside to bench
Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
research At the Root: Cutaneous Langerhans Cell Histiocytosis
A woman's long-term scalp issues were diagnosed as a rare skin disorder called cutaneous Langerhans cell histiocytosis.
research Atypical Presentation of Systemic Lupus Erythematous with Vasculitic Polyneuropathy
A rare form of lupus can cause severe nerve damage and other symptoms, but treatment can help.
research Impaired LEF1 Activation Accelerates iPSC-Derived Keratinocytes Differentiation in Hutchinson-Gilford Progeria Syndrome
Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
research Cantú syndrome with coexisting familial pituitary adenoma
Cantú syndrome may be linked to pituitary adenomas.
research Lichen Planopilaris As Part of Multiple Autoimmune Syndrome: A Case Report of New Association
Lichen planopilaris can occur with multiple autoimmune diseases.
research A rare case of Leydig cell tumor resulting in female pattern hair loss
research Coexistence of Woolly Hair and Monilethrix: A Cases Study
Two sisters have rare hair disorders causing short, fragile, kinky hair.
research Bullous lesions in patients with cutaneous lupus erythematosus: A clinicopathologic study
Careful histologic examination is crucial to differentiate types of bullous lesions in cutaneous lupus erythematosus.
research Novel small‐insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis
Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
research P133 Late onset loose anagen syndrome
Adults can develop late-onset loose anagen syndrome, which may often be misdiagnosed.
research Familial Occurrence of Eruptive Vellus Hair Cysts
Eruptive vellus hair cysts can run in families.
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
New LSS gene variants help understand congenital hypotrichosis 14 better.
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 An Atypical Initial Manifestation of Systemic Lupus Erythematosus: Lupus Enteritis Accompanied by Intestinal Pseudo-Obstruction and Bilateral Hydronephroureter
A woman with lupus had rare severe symptoms but improved with treatment.
research Lupus erythematosus, thyroiditis, alopecia areata and vitiligo – A multiple autoimmune syndrome type 3 case presentation
A 22-year-old with multiple autoimmune diseases needs a multidisciplinary treatment approach.
research Monilethrix: a typical case report with microscopic and dermatoscopic findings
A 6-year-old girl was diagnosed with a rare hair disorder and started treatment with topical minoxidil.
research Lichen Planopilaris with Pili Torti and Ectodermal Dysplasia: a hair curling case report.
Early detection and treatment are crucial to prevent irreversible hair loss in Lichen Planopilaris.