research Identification of a Novel PNPLA1 Mutation in a Spanish Family with Autosomal Recessive Congenital Ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
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330-360 / 1000+ results research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Endocrinology and Auxology of Siblings with Non-Classical Congenital Adrenal Hyperplasia
Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.
research A Case of Androgen-Secreting Adrenal Carcinoma with Non-Classical Congenital Adrenal Hyperplasia
A woman with a rare adrenal tumor and hormonal disorder had improved testosterone levels after surgery, but her menstrual irregularities continued.
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
research NIPAL4 Deletion Identified in an American Bully with Autosomal Recessive Congenital Ichthyosis and Response to Topical Therapy
An American Bully with a genetic skin condition improved significantly with specific topical treatments.
research The Effect of Simvastatin on Plasma Steroid Hormone Levels in Metformin-Treated Women with Non-Classic Congenital Adrenal Hyperplasia
Simvastatin may help manage symptoms in women with non-classic congenital adrenal hyperplasia by lowering cholesterol and certain hormone levels.
research Plasma Levels of C19 Steroid Glucuronides in Pre-Menopausal Women with Non-Classical Congenital Adrenal Hyperplasia
Women with non-classical congenital adrenal hyperplasia have higher levels of certain steroids, which can be reduced by treatment.
research Topical Polyhydroxy Acid Treatment for Autosomal Recessive Congenital Ichthyosis in the Golden Retriever: A Prospective Pilot Study
Gluconolactone products can significantly reduce skin scaling in golden retrievers with ARCI.
research Roux-En-Y Gastric Bypass in the Treatment of Non-Classic Congenital Adrenal Hyperplasia Due to 11-Hydroxylase Deficiency
Gastric bypass surgery improved a woman's hormonal disorder without the need for medication.
research Challenges in Treatment of Patients With Non-Classic Congenital Adrenal Hyperplasia
Treating non-classic congenital adrenal hyperplasia is complex because the benefits of hormone treatment must be weighed against potential health risks.
research Urinary 5-Ene-Steroid Excretion in Non-Classical Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Deficiency
Some women with excess hair growth have a hormone condition that can't be diagnosed by blood or urine tests alone.
research Cardiometabolic Risk Factors in Women with Non-Classic Congenital Adrenal Hyperplasia
Women with non-classic congenital adrenal hyperplasia have higher risk for heart and metabolic problems.
research Genetic Analysis Does Not Confirm Non-Classical Congenital Adrenal Hyperplasia in More Than a Third of Women Followed with This Diagnosis
Over a third of women thought to have non-classical congenital adrenal hyperplasia didn't have it confirmed by genetic tests.
research Advances in the Treatment of Autosomal Recessive Congenital Ichthyosis: A Look Towards the Repositioning of Drugs
Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
research Severe Hirsutism in Non-Classic Congenital Adrenal Hyperplasia: A Case Report and Literature Review
The patient with severe hirsutism improved after being diagnosed with non-classic congenital adrenal hyperplasia and treated with corticosteroids.
research Iatrogenic Cushing's Syndrome in a Patient With Salt-Wasting Congenital Adrenal Hyperplasia
A patient with congenital adrenal hyperplasia improved after adjusting her medication to prevent Cushing's syndrome symptoms.
research Topical Fluocinolone Acetonide Acetate Ointment in Autosomal Dominant Congenital Hypotrichosis
A hair growth ointment improved hair length in a family with a genetic hair growth condition.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research Morphological Study in a Mechanism of Congenital Pili Torti Formation: Björnstad Syndrome
Björnstad syndrome causes twisted hair from birth.
research Chronic Ulceration of the Scalp Associated with Genetically Different Types of Congenital Ichthyosis: A Series of Four Cases
Some scalp sores are linked to different inherited skin conditions.
research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
research Deletion of Hypoxia-Inducible Factor Prolyl 4-Hydroxylase 2 in FoxD1-Lineage Mesenchymal Cells Leads to Congenital Truncal Alopecia
Removing a specific gene in certain skin cells causes hair loss in mice by disrupting hair follicle development.
research Deletion of Hypoxia-Inducible Factor Prolyl 4-Hydroxylase 2 in FoxD1-Lineage Mesenchymal Cells Leads to Congenital Truncal Alopecia
Removing HIF-P4H-2 from certain skin cells in mice causes hair loss on the body but not the head.
research Deletion of Hypoxia-Inducible Factor Prolyl 4-Hydroxylase 2 in FoxD1-Lineage Mesenchymal Cells Leads to Congenital Truncal Alopecia
Removing a specific gene in certain skin cells causes hair loss on the body by disrupting normal hair development.
research Management of Congenital Adrenal Hyperplasia During Pregnancy
With careful management, people with congenital adrenal hyperplasia can have successful pregnancies and become parents.
research An Extraordinary Stroke
Untreated congenital adrenal hyperplasia can lead to complications like stroke and needs glucocorticoid treatment.
research Micro-Morphometric Study of Skin in Developing Human Fetuses and Its Clinical Relevance
Understanding fetal skin development helps diagnose congenital skin diseases.
research Alopecia Areata: Probing the Deforestation
The document concludes that doctors should recognize congenital triangular alopecia to avoid unnecessary treatments, as it does not respond to steroids like alopecia areata does.
research Polycystic Ovary Syndrome and NC-CAH: Distinct Characteristics and Common Findings. A Systematic Review
Polycystic Ovary Syndrome (PCOS) is common in women with conditions like anovulation, hirsutism, hair loss, and type 2 diabetes, and it can lead to health risks like heart disease, obesity, insulin resistance, and depression. Non-Classic Congenital Adrenal Hyperplasia (NC-CAH) is also discussed.