research Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
LIPH mutations cause woolly hair in some Chinese people.
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900-930 / 1000+ results research Monilethrix in three generations
Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
research Updated Integrated Safety Analysis of Ritlecitinib Over 72 Months In Patients With Alopecia Areata From the ALLEGRO Clinical Trial Program
Ritlecitinib is generally safe for alopecia areata patients over 72 months.
research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
research A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia
A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
research A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A specific gene mutation causes sparse, brittle hair in a family.
research Trichodysplasia spinulosa associated with chemotherapy for acute lymphocytic leukaemia
Two boys developed a viral skin infection during chemotherapy, which resolved with improved immune function.
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 Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
New mutations in the hairless gene may cause hair loss and affect bone development.
research Refractory dermatomyositis–systemic lupus erythematosus overlap syndrome and response to tofacitinib
Tofacitinib successfully treated a woman's severe symptoms from a rare autoimmune condition.
research A retrospective review of hyperaesthetic leucotrichia in horses in the USA
Hyperaesthetic leucotrichia in horses causes painful, recurring skin lesions and hair color changes, especially in Arabian and American paint horses.
research Topical Ruxolitinib in Combination with Oral Minoxidil Results in Hair Regrowth in a Patient with Central Centrifugal Cicatricial Alopecia and Concomitant Traction Alopecia
Topical ruxolitinib and oral minoxidil together can regrow hair in certain types of hair loss.
research Moniletherix
Monilethrix causes short, fragile hair with no specific treatment available.
research Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis
Alopecia is common in severe cases of autosomal recessive congenital ichthyosis.
research A STUDY OF MUCOCUTANEOUS MANIFESTATIONS IN AUTOIMMUNE CONNECTIVE TISSUE DISORDERS AT TERTIARY CARE CENTRE
Skin and mucous symptoms are key for diagnosing autoimmune connective tissue diseases.
research 42005 Sustained scalp, eyebrow, and eyelash hair regrowth with ritlecitinib through Week 48 in patients with alopecia areata: post hoc analysis of the ALLEGRO phase 2b/3 study
Ritlecitinib effectively regrows and maintains scalp, eyebrow, and eyelash hair in alopecia areata patients.
research Gene detection in a family with monilethrix and observation of the treatment effect with 5% topical minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.
research Ovarian Hyperthecosis Presenting as Polycythemia
Ovarian hyperthecosis can cause polycythemia, and surgery can normalize symptoms.
research When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
research Sterile suppurative folliculitis associated with acute myeloblastic leukaemia
A rare skin condition linked to leukemia improved with chemotherapy.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research The T-cell antigen receptor: paradigm recalled
research Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs
Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
research Netherton Syndrome – Responding to Oral Retinoids
Oral Acitretin effectively resolved symptoms in a child with Netherton syndrome.
research A novel mouse model demonstrates that oncogenic melanocyte stem cells engender melanoma resembling human disease
Oncogenic melanocyte stem cells can develop into melanoma similar to human cases.
research Dermatopathology and molecular genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research Chronological clinicopathological characterization of rapidly progressive alopecia areata resistant to multiple i.v. corticosteroid pulse therapies: An implication for improving the efficacy
Current corticosteroid pulse therapy is not very effective for severe rapidly progressive alopecia areata.
research An observational analysis of erythromelanosis follicularis faciei et colli
EFFC might be common but underreported.
research Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
research Differentiating pulmonary lymphangioleiomyomatosis from pulmonary langerhans cell histiocytosis and Birt-Hogg-Dube syndrome
Radiological findings help distinguish LAM, PLCH, and BHD to avoid invasive tests.