research Nonclassic 21-hydroxylase deficiency
Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.
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300-330 / 1000+ resultsresearch Atrichia with papular lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research Trichothiodystrophy: Current Concepts
TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
research Frontal fibrosing alopecia in a 46-year-old man
A 46-year-old man was diagnosed with frontal fibrosing alopecia, a condition usually seen in postmenopausal women.
research Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters
A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
research Effect of calcium supplementation on bone deformity and histopathological findings of skin papules in a pediatric patient with vitamin D–dependent rickets type 2A: a case report
Calcium supplements improved bone deformities but not skin papules or hair loss.
research Congenital erythropoietic porphyria five years observation with standard treatment: a case report
Standard treatment for congenital erythropoietic porphyria was ineffective over five years.
research Efficacy of a topical formulation of Henna (Lawsonia inermis) on the itch and wound healing in patients with epidermolysis bullosa: A pilot single-arm clinical trial
Henna ointment may help reduce itching and improve wound healing in patients with epidermolysis bullosa.
research Netherton Syndrome
Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
research ATRICHIA WITH PAPULAR LESIONS – A CASE REPORT
No effective treatment exists to stimulate hair growth in atrichia with papular lesions.
research Alopecia Universalis Associated with a Mutation in the Human hairless Gene
A mutation in the human hairless gene causes alopecia universalis.
research Frontal fibrosing alopecia developing after hair transplantation for androgenetic alopecia
Hair transplant destroyed by lichen planopilaris.
research FOXN1 deficient nude severe combined immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome
Trichoscopy is useful for diagnosing Netherton syndrome in children with skin issues.
research Vitamin D Dependent Rickets Type II with Alopecia
A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.
research Pinkie, the First Viable Germline Hypomorph Allele of Retinoid X Receptor Alpha, Reveals an Important Role for RXRa in Th2 Development.
RXRa is crucial for Th2 immune cell development and may link nutrition to immune health.
research Ichthyosis and Trichothiodystrophy: the Tay and PIBI(D)S Syndromes
Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
research LEKTI: Netherton Syndrome and Atopic Dermatitis
LEKTI is crucial for skin barrier and immune function, affecting conditions like Netherton syndrome and atopic dermatitis.
research Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency epidemiology, etiopathogenesis, clinical presentation, treatment – a systematic review
CAH requires a multidisciplinary approach, and while current treatments help, future therapies show promise.
research Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
research AN OVERVIEW OF MEDICINAL PLANTS USED FOR THE TREATMENT OF HAIR LOSS
Herbal treatments are gaining interest as alternatives for hair loss.
research Vitamin D dependent rickets type 2: a case-based review of patient with alopecia and rickets
A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.
research Trichothiodystrophy in a child with occult learning disorder
Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
research Congenital Adrenal Hyperplasia
The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
research Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding (bal) Locus
A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
research Yellow facial papules associated with frontal fibrosing alopecia: A distinct histologic pattern and response to isotretinoin
Oral isotretinoin effectively treats yellow facial papules in frontal fibrosing alopecia patients.
research Vitamin D‐dependent rickets Type II with alopecia: two case reports and review of the literature
Vitamin D-dependent rickets Type II causes bone problems and hair loss, and doesn't improve with Vitamin D treatment.
research Nonclassic congenital adrenal hyperplasia
Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
research Cutaneous Ultrastructural Features of the Flaky Skin (fsn) Mouse Mutation
The flaky skin mouse mutation is a natural model for studying human psoriasis.
research Aetiology and Pathophysiology of Hair Loss
Hair loss is common, influenced by genetics and androgens, and can affect mental health.