research Short anagen hair syndrome
Short Anagen Syndrome causes persistently short hair and increased shedding, usually improving after puberty.
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750-780 / 1000+ results research Unveiling the Potential of Dermoscopy in Diagnosing Netherton Syndrome
Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
research Early Onset Werner Syndrome
Consider Werner syndrome in young patients with early aging signs and metabolic issues.
research Lupus comédonien
A man was diagnosed with a rare form of lupus after showing unique skin symptoms that responded well to treatment.
research Multifocal alopecia of the scalp, axillae, and body
A young man was diagnosed with a rare hair loss condition usually seen in older women.
research MON-323 Metastatic Adrenocortical Carcinoma Presenting with Mixed Cushing's and Virilization Syndrome along with Bilateral Pulmonary Emboli
Rapid virilization should be checked for possible ovarian or adrenal cancer.
research A combination of low-dose systemic etretinate and topical calcipotriol/betamethasone dipropionate treatment for hyperkeratosis and itching in Olmsted syndrome associated with a TRPV3 mutation
The combined treatment effectively managed severe skin issues in Olmsted syndrome.
research A rare hair loss in children: Monilethrix
Monilethrix is a rare, inherited condition causing fragile hair and hair loss, with no cure but some treatments may help.
research Major improvement of very severe alopecia areata in patients treated with the combination of baricitinib and low doses of corticosteroids: an eight-case series
Combining baricitinib with low-dose corticosteroids significantly improved severe hair loss in eight patients.
research Castleman’s Disease Combined with the Development of Systemic Lupus Erythematosus
A 16-year-old boy with Castleman's disease and lupus was successfully treated and showed no recurrence.
research Association of Early-onset Androgenetic Alopecia and Metabolic Syndrome
Early-onset hair loss in young males is linked to a higher risk of metabolic syndrome.
research Late presentation of biotinidase deficiency with acute visual loss and gait disturbance
Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.
research NovelPAX9mutation associated with syndromic tooth agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
research Atrichia with papular lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes
Excessive body hair can signal complex health issues.
research Pulmonary manifestations of Birt-Hogg-Dubé syndrome
People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
research Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research 1340 低熱セメントを用いた高強度コンクリート実大施工実験 : その4 硬化コンクリートの性状
Evaluate prolactin levels with androgen and thyroid tests to rule out endocrine issues in patients with SAHA syndrome symptoms.
research Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa
research Association between PITX2 polymorphism and androgenetic alopecia in the Indian population
Certain gene variations in PITX2 are linked to a higher risk of male pattern baldness in Indians.
research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
research Short anagen syndrome: Case series and literature review
Children with short anagen syndrome usually see their hair condition improve as they get older.
research Fatal Rapunzel Syndrome
A child died from eating hair, causing severe stomach blockages and infection.
research Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
research 1322 A non-cell autonomous dermal hedgehog signaling mechanism for follicular neoplasia and induction
Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.
research Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa
Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
research Two Phase 3 Trials of Baricitinib for Alopecia Areata
Baricitinib was effective in treating alopecia areata in two major trials.
research Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
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.
research Widespread porokeratotic adnexal ostial nevus: Clinical features and proposal of a new name unifying porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus
The term "porokeratotic adnexal ostial nevus" is proposed to unify overlapping skin conditions involving eccrine and hair follicles.