research Encephalocraniocutaneous Lipomatosis, A Rare Neurocutaneous Disorder: Report Of Additional Three Cases
ECCL should be considered in patients with specific skin and eye lesions.
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research Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research Analysis of the Relationship Between the Mutation Site of the SLC39A4 Gene and Acrodermatitis Enteropathica: A Case Report and Literature Review
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
research Partial Penile Amputation Due to Penile Tourniquet Syndrome in a Child With Primary Nocturnal Enuresis: A Rare Emergency
An 8-year-old boy with bed-wetting issues suffered a severe penile injury from tying a thread around his penis, requiring urgent medical treatment to avoid worse outcomes.
research Diffuse Idiopathic Skeletal Hyperostosis in a 33-Year-Old Woman with PCOS and Metabolic Syndrome: A Rare Scenario
A 33-year-old woman with PCOS and metabolic syndrome was unusually diagnosed with a bone condition called DISH, suggesting a possible link between these conditions.
research High-Dose Vitamin D3 and Tonsillectomy as Therapeutic Management in Henoch-Schönlein Purpura Following Hepatitis B Vaccination: A Rare Case Report
Hepatitis B vaccination can trigger HSP, and vitamin D correction and tonsillectomy can effectively manage it.
research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Androgenic Alopecia and Hirsutism in a 73-Year-Old Woman: Careful Re-Evaluation of Normal Imaging Findings May Lead to a Rare Diagnosis
A 73-year-old woman's unusual hair loss and growth led to the discovery of a rare condition causing too much testosterone, which improved after her ovaries were removed.
research Physiological and Retinoid-Induced Proliferations of Epidermis Basal Keratinocytes Are Differently Controlled
Normal skin cell renewal doesn't need RAR signaling, but vitamin A-related skin thickening does.
research Androgen- and Estrogen-Secreting Adrenal Cancers
Rare adrenal cancers that secrete androgens or estrogens have a poor prognosis and are treated primarily with surgery.
research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Mixing the Old with the New: Drug Repurposing for Immune Deficiency in the Era of Precision Medicine and Pediatric Genomics
Using old drugs for new uses can help treat rare immune deficiencies.
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 Incidence of Liver Toxicity Associated with the Use of Flutamide in Prostate Cancer Patients
Flutamide rarely causes liver toxicity in prostate cancer patients.
research Viral-Associated Trichodysplasia Spinulosa: A Case with Electron Microscopic and Molecular Detection of the Trichodysplasia Spinulosa-Associated Human Polyomavirus
A rare skin condition was confirmed to be associated with a specific virus in a young girl.
research Two Cases of Linear Alopecia on the Occipital Scalp
Two rare bald spots on the back of the scalp were found to be lupus, not alopecia areata.
research Alopecia Neoplastica Caused by Desmoplastic Melanoma
A rare skin cancer caused hair loss and spread, needing multiple treatments.
research Unilateral Erythromelanosis Follicularis Faciei et Colli in a Young Girl
A rare skin condition was found in a young white girl for the first time.
research Expansion of the Spectrum of ITGB6-Related Disorders to Adolescent Alopecia, Dentogingival Abnormalities, and Intellectual Disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
research Cutaneous Focal Mucinosis: A Case Report
A rare skin condition in children can look like other diseases.
research FOXN1 Italian Founder Mutation in Indian Family: Implications in Prenatal Diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
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 The First Case Report of Kerion-Type Scalp Mycosis Caused by Aspergillus Protuberus
A rare fungal infection on a child's scalp was successfully treated with antifungal medication.
research Erosive Pustular Dermatosis of the Scalp: Causes and Treatments
A rare scalp condition mainly in older women can be treated with various alternatives to steroids, which may have fewer side effects.
research Alopecia-Associated Pseudocyst of the Scalp
A rare scalp condition causing hair loss and cysts in young men can be treated effectively with a specific steroid injection.
research Trichoblastoma with Sebaceous and Sweat Gland Differentiation
A rare benign skin tumor showed unusual features of sebaceous and sweat glands, important for correct diagnosis.
research Circumscribed Alopecia Areata Incognita
A rare form of alopecia causes hair thinning without bald spots and may be more common than thought, responding well to steroid treatment.
research Adult-Onset Satoyoshi Syndrome in a Young Male
A rare autoimmune condition, Satoyoshi syndrome, can start in adults and improve with immunosuppressive treatment.
research Bilateral Nevus Comedonicus of the Eyelids
A 79-year-old man was diagnosed with a rare skin condition called nevus comedonicus on his eyelids.
research Ichthyosis Hystrix: A Rare Case in a Three-Day-Old Male Infant
A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.