research An Update of Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
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570-600 / 1000+ results research Alopecia areata after mogamulizumab treatment
Mogamulizumab can cause hair loss and skin rashes.
research Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin
Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research The comparison of metabolic syndrome parameters, trichoscopic and trichoscan characteristics in androgenetic alopecia (AGA) and early-onset androgenetic alopecia (early-onset AGA)
Androgenetic alopecia may be linked to metabolic syndrome.
research Comparative Gene Expression Profiling of Senescent and Androgenetic Alopecia Using Microarray Analysis
SA linked to mitochondrial issues and oxidative stress, while AGA involves disrupted hair growth genes.
research An endocrinopathy characterized by dysfunction of the pituitary-adrenal axis and alopecia universalis: supporting the entity of a triple H syndrome
Triple H syndrome exists and can vary in symptoms.
research Myocyte Androgen Receptor Modulates Body Composition and Metabolic Parameters
Activating androgen receptors in muscle can increase muscle mass and reduce fat.
research Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature
AE can have varied symptoms and genetic causes, but zinc therapy helps.
research Loose anagen hair syndrome in children of Upper Egypt
Loose Anagen Hair syndrome occurs in dark-skinned children and often improves on its own.
research Genome-wide association study of atopic and autoimmune comorbidities in alopecia areata
Certain genes may be linked to autoimmune conditions in people with alopecia areata.
research Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
research Satoyoshi syndrome: A rare multisystemic disorder requiring systemic and symptomatic treatment
A patient with Satoyoshi syndrome improved with a treatment combining several medications, including carbamazepine and methotrexate.
research An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery
Early diagnosis and multidisciplinary care, including orthopedic surgery, can prevent long-term disability in IFAP syndrome.
research Androgenetic alopecia and polymorphism of the androgen receptor gene (SNP rs6152) in patients with benign prostate hyperplasia or prostate cancer
Hair loss gene linked to prostate issues.
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 Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research Screening Guidelines for Thyroid Function in Children With Alopecia Areata
Children with alopecia areata should only have thyroid screening if they have Down syndrome, a history of atopy, family history of thyroid disease, or signs of thyroid problems.
research Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color
Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
research Pathological Feature and Expression of Androgen Receptor in Affected Area of Androgenetic Alopecia in Various Syndromes of Traditional Chinese Medicine
Androgen receptor abnormalities may contribute to hair loss in androgenetic alopecia.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Combination of metformin with liraglutide in treating HAIR-AN syndrome in children: A case report and literature review.
Metformin and liraglutide improved symptoms of HAIR-AN syndrome in a child.
research Eruptive syringomas in Down’s syndrome
People with Down's syndrome are more likely to have syringomas.
research The Association of Gene Expression and Single Nucleotide Polymorphism (rs 6152 SNP) in Androgen Receptor Gene with Recurrent Spontaneous Abortion (RSA) in Iraqi Women
The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.
research The role of AUTS2 in neurodevelopment and human evolution
The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
research Regrowth of alopecia areata simulating the pattern of androgenetic alopecia
Hair loss from alopecia areata can sometimes regrow in a pattern similar to androgenetic alopecia.
research Alopecia areata multiplex following autologous dermal micrograft injection for treatment of androgenetic alopecia
Hair loss treatment caused more hair loss in a man.
research Characteristics and Management of Patients with Alopecia Areata and Selected Comorbid Conditions: Results from a Survey in Five European Countries
AA patients with comorbid conditions face more severe hair loss and need specific treatments.
research A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
The new model helps understand and develop treatments for genetic skin disorders like AEC.
research Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.