research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
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600-630 / 1000+ resultsresearch Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
research X-linked Recessive Ectodysplasin A Mutations Induced Hypohidrotic Ectodermal Dysplasia and Severe Atopic Dermatitis Successfully Treated with Dupilumab
Dupilumab effectively treats severe skin issues in a rare genetic disorder.
research Hair-thread tourniquet syndrome of labia: A case report
Removing hair wrapped around the labia quickly prevents serious tissue damage.
research Schimmelpenning Syndrome: A Neuro-Oculo-Cutaneous Disorder
Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
research Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
research Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.
Advancements in understanding, diagnosing, and managing congenital adrenal hyperplasia have improved treatment and long-term outcomes.
research Swiss Practice Recommendations for the Management of Hidradenitis Suppurativa/Acne Inversa
Swiss experts recommend specific guidelines for diagnosing and treating hidradenitis suppurativa to improve patient care.
research Coexistence of psoriasis, and alopecia areata with trachyonychia in a pediatric patient with Turner Syndrome
A 6-year-old girl with Turner syndrome also had psoriasis, alopecia areata, and trachyonychia.
research Cutaneous Keratocyst and Steatocystoma Unified as Sebaceous Duct Cyst, a Hamartoma Resembling the Sebaceous Duct
Cutaneous keratocyst and steatocystoma should be called "sebaceous duct cyst" due to their similarities.
research Delayed Puberty
Delayed puberty affects some teens, and early treatment with hormones can help improve their growth and social well-being.
research SAT-210 When Acne, Hirsutism and Menstrual Irregularities Are More Than PCOS
Non-classic congenital adrenal hyperplasia (NCCAH) can mimic PCOS and requires genetic testing for proper diagnosis and treatment.
research Ectodermal Dysplasia: Otolaryngologic Manifestations and Management
Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
research Hidradenitis suppurativa
Hidradenitis suppurativa treatment should be tailored to the individual, with quitting smoking being important.
research Trichostasis Spinulosa: A Clinical Simulant of Acne Open Comedones
Trichostasis spinulosa can look like acne but usually affects adults, not children.
research Hair Tourniquet Syndrome of the Toe: Report of 2 New Cases
Two babies needed surgery to remove hair tightly wrapped around their toes to prevent serious injury.
research Skin manifestations in adults with gender dysphoria on hormone treatment in the outpatient clinic of Hospital de San José, Bogotá—Colombia
Adults with gender dysphoria on hormone treatment often have skin problems like acne, which are common but not always recognized.
research Hidradenitis suppurativa secondary to treatment with a gamma secretase inhibitor
A man developed skin lesions as a side effect of a gamma secretase inhibitor used for treating a tumor.
research Management of hidradenitis suppurativa:
Treating hidradenitis suppurativa needs long-term care and teamwork among doctors, but there's a lack of strong guidance on how to do it.
research ADRENOCORTICAL ADENOMA AS A CAUSE OF HYPERANDROGENISM SYNDROME IN A GIRL: THE PATH TO DIAGNOSIS
A young girl's hyperandrogenism was caused by an adrenocortical adenoma, diagnosed and treated through detailed evaluations.
research Large Nasal Tip Defects—Utilization of Interdomal Sutures Before Burowʼs Graft for Optimization of Nasal Contour
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research Common Dermatologic Disorders in Down Syndrome: Systematic Review (Preprint)
People with Down syndrome have a higher risk of skin disorders and need better screening and treatment.
research Floppy Iris Syndrome
Tamsulosin increases the risk of floppy iris syndrome during cataract surgery.
research Steatocystoma
research Ichthyosis linearis circumflexa in a child. Response to narrowband UVB therapy.
Narrowband UVB therapy significantly improved a child's rare skin condition.
research Preparing the hair follicle canal for hair shaft emergence
A specific type of skin cell creates an opening for hair to grow out, and problems with this process can lead to skin conditions.
research Skin Diseases and Sexually Transmitted Infections among Patients with HIV infection/AIDS referred at the City Institute for Skin and Venereal Diseases in Belgrade: a Case Series of 38 Patients
HIV-positive patients, especially men who have sex with men, had a high rate of skin diseases and sexually transmitted infections.
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research Finasteride as a therapy for hidradenitis suppurativa
Finasteride improves hidradenitis suppurativa but not for child-bearing women.