research 267 Deep phenotyping of patients with xeroderma pigmentosum and trichothiodystrophy
Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
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research Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia
The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
research Human gene correlation analysis (HGCA): A tool for the identification of transcriptionally co-expressed genes
The HGCA tool helps identify genes that work together by analyzing their co-expression patterns.
research INNOWACYJNE TECHNOLOGIE W LECZENIU NIEWYDOLNOŚCI SERCA
New devices may treat heart failure more effectively than drugs.
research Isolated Actinic Prurigo Cheilitis in an Elderly Thai Female: An Atypical Presentation
Actinic prurigo cheilitis can occur in elderly Asians and can be treated with hydrocortisone cream and sun protection.
research Decision letter: Plant Trans-Golgi Network/Early Endosome pH regulation requires Cation Chloride Cotransporter (CCC1)
CCC1 is essential for ion balance and proper plant cell function.
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 Skin diseases associated with hepatitis C virus: Facts and controversies
Hepatitis C virus can cause skin diseases and dermatologists play a crucial role in identifying these conditions.
research Increased PHGDH expression promotes aberrant melanin accumulation
Higher PHGDH levels cause unusual melanin buildup in hair follicles.
research HR Gene Variants Identified in Mexican Patients with Alopecia Areata
A specific gene variant may increase the risk of developing Alopecia Areata.
research Sterol Intermediates of Cholesterol Biosynthesis Inhibit Hair Growth and Trigger an Innate Immune Response in Cicatricial Alopecia
Cholesterol-related compounds can stop hair growth and cause inflammation in a type of scarring hair loss.
research Hague (Hag): A New Mouse Hair Mutation With an Unstable Semidominant Allele
A new mouse hair mutation, called hague, is semidominant and unstable, but the exact cause is unknown.
research High frequency of cutaneous manifestations including vitiligo and alopecia areata in a prospective cohort of patients with chronic graft-vs-host disease
Patients with chronic graft-versus-host disease often have skin problems like vitiligo and alopecia areata.
research Eruptive vellus hair cysts: report of a pediatric case with partial response to calcipotriene therapy.
A child with eruptive vellus hair cysts showed some improvement with calcipotriene cream.
research Tooth Development Associated with Mutations in Hereditary Vitamin D–Resistant Rickets
Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.
research 5α-Reductase and 11β-Hydroxysteroid Dehydrogenase Activity in Prepubertal Hispanic Girls with Premature Adrenarche
Enzyme activities do not cause early pubic hair in these girls.
research Complex X chromosome rearrangement associated with multiorgan autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research Identification of Trichohyalin-Like 1, an S100 Fused-Type Protein Selectively Expressed in Hair Follicles
TCHHL1 is a protein important for hair growth, found in hair follicles.
research Central Centrifugal Cicatricial Alopecia Associated With PDL1 Loss and Increased Expression of Caspase 3: A Case Series
CCCA may involve the PD1/PDL1 pathway and increased caspase 3, leading to permanent hair loss.
research Aberrant Activation of the Hedgehog Signaling Pathway in Malignant Hematological Neoplasms
Abnormal Hedgehog signaling in blood cancers may help tumors grow and resist chemotherapy, suggesting potential for targeted treatments.
research FINASTERIDE FOR CHRONIC CENTRAL SEROUS CHORIORETINOPATHY
Finasteride may help treat chronic CSC, improving vision.
research Granuloma annulare associated with Hodgkin's disease
Chemotherapy successfully treated both Hodgkin's disease and skin lesions.
research Clinical features of taste disorders in Cronkhite-Canada syndrome: A report of 10 cases
Taste disorders in Cronkhite-Canada syndrome are severe in the front of the tongue but improve with treatment.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research A case of encephalocraniocutaneous lipomatosis
The document reports a rare case of ECCL with a new association with optic disc colobomas.
research Central centrifugal cicatricial alopecia
CCCA causes progressive hair loss in Black women, starting from a central scalp patch.
research Risk Factors and Characterization of Vitiligo and Alopecia Areata in Patients With Chronic Graft-vs-Host Disease
Female donor to male recipient sex mismatch and positive ACA-IgG are key risk factors for vitiligo and alopecia areata in chronic GvHD patients.
research 127 Long-term remission of Hailey-Hailey disease by Er:YAG ablative laser therapy
Er:YAG laser therapy effectively treats Hailey-Hailey disease, leading to long-term remission and improved quality of life.