research A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
The new model helps understand and develop treatments for genetic skin disorders like AEC.
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870-900 / 1000+ resultsresearch Atypical pediatric presentation of alopecic and aseptic nodules of the scalp with features of dissecting cellulitis
A 9-year-old boy had a rare scalp condition usually seen in young men.
research Disfigurement: A visibly different approach to equality?
Redefining disfigurement could improve the current law's effectiveness.
research WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
research Dimorphic regulation of the MafB gene by sex steroids in hamsters (Mesocricetus auratus)
Sex steroids affect the MafB gene differently in male and female hamsters.
research Near-total penile amputation secondary to hair Torniquet syndrome – Case of a staged repair with a satisfactory outcome
Timely surgery successfully repaired a boy's penis after a hair caused severe damage.
research L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy
research A Case of Acrodermatitis Enteropathica
Acrodermatitis Enteropathica is a rare skin condition treated effectively with zinc supplements, and early diagnosis is key.
research Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide
research Genetic variants in AR and SHBG and resistance to hormonal castration in prostate cancer
Certain genetic variants increase the risk of resistance to hormone therapy in prostate cancer patients.
research Update on detection, morphology and fragility in pili annulati in three kindreds
Careful light microscopy is crucial for detecting mild cases of pili annulati, which weakens hair and varies widely in expression.
research Preoperative hormonal stimulation in hypospadias: a systematic review
Hormone treatment before hypospadias surgery can increase penis size and reduce surgery complications.
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 Skin regional specification and higher-order HoxC regulation
A specific DNA duplication in Polish chickens affects feather shape by altering gene expression.
research Androgenetic alopecia in children: report of 20 cases
AGA can occur in children with family history; early diagnosis and treatment important.
research Androgenetic alopecia as an early marker of benign prostatic hyperplasia
Early hair loss may indicate prostate issues.
research Molecular basis of congenital atrichia in humans and mice.
Understanding genes and mutations can lead to new treatments for hair loss disorders.
research Trichilemmal cysts of the scrotal wall
Ultrasound is effective for diagnosing scrotal cysts, and prompt treatment is crucial to prevent severe complications.
research ‘Atrichosis’, a new hairless gene with cyst formation in rats
A new gene causes hairlessness and skin cysts in rats.
research Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez–López-Hernández syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
research NEW YORK ACADEMY OF MEDICINE, SECTION ON DERMATOLOGY AND SYPHILIS
An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
research Gender Reassignment
The conclusion is that certain surgeries can help people with gender dysphoria look more like their true gender and feel better.
research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Dermatologic care of sexual and gender minority/LGBTQIA youth, Part 2: Recognition and management of the unique dermatologic needs of SGM adolescents
Pediatric dermatologists need to understand the unique skin health needs of LGBTQIA youth to provide better care.
research Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding (bal) Locus
A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
research Heterozygous 21‐hydroxylasedeficiency as a cause of hyperandrogenism
A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
research A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
research Spontaneous Lesions of Endangered Geriatric Julia Creek Dunnarts (Sminthopsis douglasi, Archer 1979) with Emphasis in Reproductive Pathology
Geriatric Julia Creek dunnarts often suffer from reproductive and skin diseases, impacting conservation efforts.
research Evaluating Participation in Gender-Affirming Care: Cross-Sectional Analysis of Dermatology Program Websites in the United States
Few dermatology programs mention gender-affirming care, highlighting a need for better training and visibility.