research Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
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840-870 / 1000+ resultsresearch Cronkhite-Canada Syndrome: A Case Report and Literature Review of Gastrointestinal Polyposis Syndrome
Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.
research Congenital Hypotrichosis in Japanese White Strain (JW-NIBS) Rabbits.
A single recessive gene causes sparse hair in certain Japanese White rabbits.
research Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome
A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
research IMMUNOLOGICAL AND GENETIC ASPECTS OF HEREDITARY ANTIBODY DEFICIENCIES
Children with frequent severe infections and low antibodies should be checked for immune deficiencies.
research Ischemic Vaso-occlusive Retinopathy as Initial Presentation in Pediatric Systemic Lupus Erythematosus: A Case Report
Early treatment of pediatric lupus-related eye issues is crucial to prevent vision loss.
research Inflammatory Vegetative Lesions of the Perineum: A Rare and Severe Clinical Presentation of Netherton Syndrome
Netherton Syndrome can cause severe skin lesions in rare cases.
research Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research Central centrifugal cicatricial alopecia: a subtype of lichen planopilaris in African descent?
CCCA and LPP may be related hair loss conditions influenced by genetics and environment, needing early treatment.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Challenges in diagnosis and treatment of Cushing disease in a 12-year-old boy
The boy's Cushing's Disease was treated successfully, but he developed growth hormone deficiency.
research A case of encephalocraniocutaneous lipomatosis
The document reports a rare case of ECCL with a new association with optic disc colobomas.
research Phenotypic variability associated withWNT10Anonsense mutations
WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
research Trichilemmal cyst of the neck: case report and review of the literature
A young girl had a rare neck cyst removed and needs careful monitoring for related health issues.
research Lipedematous alopecia of the scalp
Lipedematous scalp may be underdiagnosed and doesn't improve with finasteride.
research Bullous Lichen Planus treated with Oral Minipulse Therapy: A Rare Case Report
Oral minipulse therapy effectively treated bullous lichen planus in a 35-year-old woman.
research Elevated body mass index, statin use, and cholecystectomy are associated with vulvar lichen sclerosus: A retrospective, case-control study
Being overweight, having gallbladder removal surgery, and taking cholesterol-lowering drugs are linked to a higher chance of getting vulvar lichen sclerosus.
research Keratosis follicularis spinulosa decalvans in a female
A rare genetic skin condition usually affecting males was found in a 9-year-old girl.
research Multiple Myeloma–Associated Amyloidosis Presenting With Acrolocalized Acquired Cutis Laxa
A man with rare skin changes on his fingers was diagnosed with multiple myeloma-linked amyloidosis.
research Lichen planopilaris in a Latin American (Chilean) population: demographics, clinical profile and treatment experience
Men with lichen planopilaris had earlier onset than women, and treatment usually improved the condition.
research Human T‐lymphotropic virus 1 (HTLV‐1)‐associated lichenoid dermatitis induced by CD8+ T cells in HTLV‐1 carrier, HTLV‐1‐associated myelopathy/tropical spastic paraparesis and adult T‐cell leukemia/lymphoma
HTLV-1-associated lichenoid dermatitis (HALD) is linked to an immune response against HTLV-1-infected cells.
research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
research Editor's evaluation: Lhx2 is a progenitor-intrinsic modulator of Sonic Hedgehog signaling during early retinal neurogenesis
Lhx2 is essential for effective Sonic Hedgehog signaling in early retinal development.
research Linear alopecia in pediatrics: RCM and dermoscopy reveal diagnostic cues
RCM and dermoscopy help identify different types of hair loss in children.
research Linear and Annular Lupus Panniculitis of the Scalp: Case Report with Emphasis on Trichoscopic Findings and Review of the Literature
LALPS causes non-scarring hair loss along the Blaschko line, with unique trichoscopic findings.
research A 40-Year-Old Woman With Facial Papules and Flank Pain
Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
research GAPO syndrome – Report of a rare case and review
GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
research Muir-torre syndrome in two families in Leicestershire, United Kingdom
Recognizing minor skin lesions can help identify serious cancer syndromes.
research BG01 Confirming small nuclear ribonucleoprotein polypeptide E as a cause of nonsyndromic hypotrichosis
The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.
research Study of the Association of Some Blood and Urine Markers in Diagnosing in Pediatric Systemic Lupus Erythematous.
Blood and urine markers are important for diagnosing lupus in children.