research Rothmund Thomson syndrome with late onset and good preventive control of non-melanoma cancer with acitretin: case report
Acitretin effectively prevented skin cancer in a patient with late-onset Rothmund-Thomson syndrome.
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research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research Linear alopecia in pediatrics: RCM and dermoscopy reveal diagnostic cues
RCM and dermoscopy help identify different types of hair loss in children.
research Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research Ocular involvement caused by the accumulation of porphyrins in a patient with congenital erythropoietic porphyria
A patient with congenital erythropoietic porphyria showed eye issues due to porphyrin buildup.
research Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma
A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
research Trichoscopy and LC-OCT findings in sonidegib-induced alopecia in patients with advanced basal cell carcinoma
Sonidegib often causes hair loss, and LC-OCT helps identify early signs.
research Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research LBODP010 A Case of Glucocorticoid Resistance Syndrome
The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research 575 Senescent atrophic epidermis retains Lrig1+ stem cells and loses Wnt signaling, a phenotype shared with CD44KO mice
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 A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
A rare gene variant causes hair and nail issues in a family.
research Role of Trichoscopy in diagnosing Genotrichosis—A Report of Two Cases
Trichoscopy is crucial for diagnosing rare genetic hair disorders.
research Bilateral nevus comedonicus of the eyelids: An unusual cause of ptosis and ectropion
A rare skin condition caused droopy and outward-turning eyelids in a patient.
research Rickets and Alopecia with Resistance to 1,25-Dihydroxyvitamin D: Two Different Clinical Courses with Two Different Cellular Defects*
Patients with this syndrome can have different responses and worsening resistance to treatment over time.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research Premature aging and cancer development in transgenic mice lacking functional CYLD
Lack of functional CYLD in mice leads to early aging and cancer.
research Optic Nerve Changes in Zinc-deficient Rats
Zinc is essential for healthy optic nerves, and its deficiency can damage them.
research 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa
Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
research Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.
research Cronkhite-Canada Syndrome (CCS)—A Rare Case Report
Cronkhite-Canada syndrome is a rare, non-inherited condition causing various symptoms like polyps, hair loss, and weight loss.
research Line‐field confocal optical coherence tomography: Characteristic hints for the diagnosis of scarring alopecia due to lupus erythematodes: A preliminary study
LC-OCT can help identify lupus-related scarring hair loss by spotting unique features.
research Faculty Opinions recommendation of Targeted skin overexpression of the mineralocorticoid receptor in mice causes epidermal atrophy, premature skin barrier formation, eye abnormalities, and alopecia.
Overexpression of a specific receptor in mice skin causes skin thinning, early skin barrier formation, eye issues, and hair loss.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research A Congenital Hair Defect: Trichoschisis With Alternating Birefringence and Low Sulfur Content
research A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.
Pachyonychia congenita is linked to a keratin gene on chromosome 17.
research A Forty-Two-Year-Old Male with Multiple Gastrointestinal Polyps, Cutaneous Manifestations, and Nail Dystrophy
The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.