research Congenital Adrenal Hyperplasia: A Detailed Review of 21-Hydroxylase Deficiency
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
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research Menkes Syndrome Presenting as Myoclonic Seizures: Neuroimaging and EEG Observations
An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
research Gender Surgery Beyond Chest and Genitals: Current Insurance Landscape
Most insurance companies do not cover extra gender-affirming surgeries, with coverage being low and inconsistent.
research Marie Unna Hereditary Hypotrichosis Caused by a Novel Mutation in the Human Hairless Transcript
A new mutation in the HR gene causes hair loss in a specific family.
research Androgenic Alopecia in Females: Diagnosis and Treatment
The document concludes that treating female hair loss should target reducing excess androgen and blocking its effects on hair follicles, with the best treatments being hormonal therapy, adrenal suppression, and topical minoxidil.
research Cantú Syndrome with Coexisting Familial Pituitary Adenoma
Cantú syndrome may be linked to pituitary adenomas.
research Naevus Comedonicus Syndrome Complicated by Hidradenitis Suppurativa-like Lesions Responding to Acitretin Treatment
Acitretin significantly reduced inflammatory attacks in a woman with Naevus Comedonicus Syndrome but caused side effects.
research Clinical Case Notes: Lipoid Proteinosis - A Rare Disorder with Pathognomonic Lid Lesions
A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
research Androgenetic Alopecia: The Role of Inflammation and Demodex
Inflammation and Demodex mites might contribute to hair loss, and targeting them could help treat it.
research Clinical Case Notes: Propecia-Associated Bilateral Cataract
Taking Propecia might lead to the development of cataracts.
research Pathological Studies of Cross-Related Congenital Hypotrichosis in Cattle
Crossbreeding certain European cattle breeds may cause hair and physical issues in cattle.
research Severe, Disfiguring, Pityriasis Rubra Pilaris in a Woman in the Dominican Republic
A woman with HIV had a severe skin condition that improved with antiretroviral therapy.
research Clinical Case Notes: Castleman's Disease of the Lacrimal Gland
The document discusses various eye conditions and their treatments, including a rare eye cancer in a baby, vision loss from a cancer drug, cataracts from a baldness treatment, a rare skin disorder, and a specific type of eye disease diagnosed with a special imaging technique.
research The Expanded Flying-Wings Scalp Flap for Aesthetic Hemiscalp Alopecia Reconstruction in Children
The "flying-wings" scalp flap technique is a simple, safe, and effective way to reconstruct large areas of scalp loss in children.
research Identification and Characterization of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2
A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
research Clinical Case Notes: Malignant Melanoma in Eviscerated Eyeball
Finasteride, often used for hair loss, can potentially cause cataracts.
research Steroid-Resistant Nephrotic Syndrome Associated with Steroid Sulfatase Deficiency—X-Linked Recessive Ichthyosis: A Case Report and Review of Literature
A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
research Hereditary Vitamin D Rickets: A Case Series in a Family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
research Clinical Case Notes: Retinoblastoma, Microphthalmia, and Chromosome 13q Deletion Syndrome
The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
research A Study on the Efficacy of Oral Zinc Therapy for the Treatment of Acrodermatitis Enteropathica
Oral zinc therapy is effective for treating acrodermatitis enteropathica.
research Clinical Case Notes: Optical Coherence Tomography of Adult-Onset Foveomacular Vitelliform Dystrophy
Multiple eye conditions were studied, highlighting the importance of various imaging methods for diagnosis, the vision side effects of drugs tamoxifen and Propecia, and the usefulness of optical coherence tomography for diagnosing and monitoring macular and retinal diseases.
research Rare Clinical Features of the Ellis Van Creveld Syndrome: A Case Report and Literature Review
Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
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 Diseases of Hair and Nails
The document says that there are treatments for hair and nail diseases.
research Risk Factors, Prevalence, and Diagnosis of Hutchinson-Gilford Syndrome with Special Reference to Case Reports
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Alopecia in a 19-Month-Old Boy
A 19-month-old boy with a rare hair disorder showed mild improvement with treatment, but his family chose gentle hair care due to limited success.
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 Alopecia Areata of Eyelashes: Regrowth After Injecting Triamcinolone Into the Eyebrow Area
Injecting triamcinolone into the eyebrow area may help eyelash regrowth in alopecia areata patients.
research Structure and Development of the Skin and Cutaneous Appendages
Understanding skin structure and development helps diagnose and treat skin disorders.