research Hereditary Chorea Associated With and Aggravated by Systemic Lupus Erythematosus
A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.
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research AIRE Deficiency Leads to the Development of Alopecia Areata‒Like Lesions in Mice
AIRE deficiency causes hair loss similar to alopecia areata in mice.
research A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22)
Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
research Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
LIPH mutations cause woolly hair in some Chinese people.
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 Androgenetic alopecia as a cardiovascular risk factor
Hair loss may increase heart disease risk.
research 43303 Cardiovascular Risk in Patients with Scarring and Non-Scarring Alopecias: Assessing the Current State of Evidence
Alopecia, especially androgenic, may increase cardiovascular risk, but more research is needed.
research Predominance of CD27-PD-1- Effector Memory T Cells Re-Expressing CD45RA Characterizes Treatment-Resistant Severe Alopecia Areata
CD8+ T cells re-expressing CD45RA may predict treatment resistance in severe alopecia areata.
research Acrodermatitis dysmetabolica in an infant with maple syrup urine disease
Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
research Genetic Susceptibility to Alopecia
Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.
research Major Histocompatibility Complex Class I Chain-Related Gene A Polymorphisms and Extended Haplotypes Are Associated with Familial Alopecia Areata
Certain genetic markers, especially the MICA gene, are linked to alopecia areata.
research Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report
A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
research Type 1 interferon signature and cytotoxic T lymphocyte activation targeted against sweat ducts in inflammatory acquired idiopathic generalized anhidrosis
Inflammation damages sweat ducts, causing sweat gland injury.
research Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2
MCHR2 gene duplications may be linked to alopecia areata.
research Increased CRHR1 expression on monocytes from patients with AA enables a pro‐inflammatory response to corticotrophin‐releasing hormone
Higher CRHR1 levels in AA patients lead to increased inflammation.
research Alopecia androgénica masculina y factores de riesgo cardiovascular: estudio de casos y controles
Men with early-onset baldness have a higher chance of heart disease and clogged arteries.
research Fibrosing Alopecia in a Pattern Distribution
FAPD and possibly CCCA may be AGA subtypes, and treatments combining antiandrogens, hair growth agents, hair transplants, and anti-inflammatories could be effective.
research Adult Kawasaki Disease: Report of Two Cases and Literature Review
Kawasaki Disease is rare and often missed in adults, who show different symptoms than children, and may benefit from early treatment.
research Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
Mutations in the LIPH gene cause woolly hair in a child.
research Atrichia with papular lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families
Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.
research Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation
A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
research Central centrifugal cicatricial alopecia: a subtype of lichen planopilaris in African descent?
CCCA and LPP may be related hair loss conditions influenced by genetics and environment, needing early treatment.
research Correlating Cicatricial Alopecia and Cardiovascular Risk: Emerging Insights
People with Primary Cicatricial Alopecia have a higher risk of heart disease.
research Alterations in Corneal Sensitivity, Staining and Biomechanics of Alopecia Areata Patients: Novel Findings in a Case-Control Study
Alopecia areata patients have eye issues and need regular eye exams.
research Systemic lupus erythematosus presenting with homonymous hemianopia
Lupus can cause unusual vision problems, so it's important to consider it in such cases.
research New familial association between ocular coloboma and loose anagen syndrome
Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
research Fibroproliferative genes are preferentially expressed in central centrifugal cicatricial alopecia
Genes linked to fibrosis are more active in people with central centrifugal cicatricial alopecia.
research Systemic Lupus Erythematosus—Vasculopathy/Vasculitis, Susac Syndrome, and Myasthenia Gravis
Systemic lupus erythematosus is an autoimmune disease causing diverse symptoms and major organ involvement.