research Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
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research Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports
DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
research Efficacy of Isotretinoin and Acitretin in Treatment of Frontal Fibrosing Alopecia: Retrospective Analysis of 54 Cases.
Isotretinoin and acitretin may effectively stabilize the hairline in patients with frontal fibrosing alopecia.
research Autophagy Stimulation Improves Erythroid Proliferative Capacity in Models of SF3B1 Mutant MDS
Tofacitinib helped most teenagers in the study regrow hair with mild side effects.
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 Lichen planopilaris versus frontal fibrosing alopecia: histopathologically distinct diseases or not?
Lichen planopilaris and frontal fibrosing alopecia are likely distinct diseases with different tissue involvement.
research La administración estatal y la estabilidad en los mercados agrarios
Frontal fibrosing alopecia and vitiligo might be linked by similar immune issues.
research A Complex Clinical Situation in Polycystic Ovary Syndrome: HAIR‐AN Syndrome ‘‘Case Report’’
Early detection, consistent management, and lifestyle changes are crucial for managing HAIR-AN syndrome effectively.
research Parry-Romberg Syndrome: A Rare Case with Diagnostic Challenges and Orthodontic Implications
Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research Acquired uncombable hair
A 39-year-old woman developed uncombable hair syndrome after taking oral contraceptives.
research Injectable Platelet-, Leukocyte-, and Fibrin-Rich Plasma (iL-PRF) in the Management of Androgenetic Alopecia
iL-PRF treatment improves hair growth for androgenetic alopecia.
research The increasing incidence of frontal fibrosing alopecia. In search of triggering factors
Various potential triggers may be causing the rise in frontal fibrosing alopecia, and avoiding these could help stop the disease's increase.
research IGFBP‐rP1 is a potential therapeutic target in androgenic alopecia
IGFBP-rP1 could be a new treatment for a common type of hair loss.
research PRIDE syndrome with lumbosacral hypertrichosis
EGFR inhibitors can cause unusual localized hair growth.
research Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies
Eflornithine improved symptoms in Bachmann–Bupp Syndrome patients.
research Hypohidrotic Ectodermal Dysplasia with c.28delG Mutation in Ectodysplasin A Gene and Severe Atopic Dermatitis Treated Successfully with Tofacitinib
Tofacitinib effectively improved severe skin symptoms in a patient with Hypohidrotic Ectodermal Dysplasia.
research LUNG IS A BATTLEFIELD: DIFFUSE ALVEOLAR HEMORRHAGE IN ANTIPHOSPHOLIPID SYNDROME
Early recognition and a team approach are crucial for managing diffuse alveolar hemorrhage in antiphospholipid syndrome.
research Free androgen index (FAI)’s relations with oxidative stress and insulin resistance in polycystic ovary syndrome
Oxidative stress, not insulin resistance, is significantly related to free androgen index in PCOS.
research Facial Papules Are Early Sign of Frontal Fibrosing Alopecia: A Cross-Sectional Study
Bumps on the face may be an early sign of a type of hair loss called frontal fibrosing alopecia.
research Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research A unique presentation of trichofolliculoma in amniotic band syndrome
Trichofolliculoma was found in a person with amniotic band syndrome for the first time.
research AIMP1-derived peptide secreted from hair follicle stem cells activates dermal papilla cells to promote hair growth
A peptide from hair follicle stem cells promotes hair growth by activating specific skin cells.
research 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
research ADRENAL FAILURE: WHEN ANTIPHOSPHOLIPID SYNDROME LEAVES SCARS
Antiphospholipid syndrome can severely damage adrenal glands, requiring early diagnosis and treatment.
research Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
research Uncombable-hair Syndrome
Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
research An adolescent girl presenting with primary amenorrhea: A case report of complete androgen insensitivity syndrome
A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
research Clinical Case Notes. Intraorbital ophthalmic artery aneurysms
Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
research Frontal fibrosing alopecia – review of recent case reports and case series in PubMed
Most patients with frontal fibrosing alopecia are middle-aged women, often have thyroid disease, and some treatments can help stabilize the condition.