research P326: Cardiovascular features in adult individuals affected with Tatton-Brown-Rahman syndrome
Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
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30-60 / 1000+ results research A 40-Year-Old Woman With Facial Papules and Flank Pain
Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
research Pulmonary manifestations of Birt-Hogg-Dubé syndrome
People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
research Multiple, hereditary dome-shaped papules and acrochordons. Birt-Hogg-Dube syndrome
The boy likely has a fungal infection causing hair loss.
research A case of localized uncombable hair syndrome
A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
research Unilateral heterochromia of scalp hair with adjacent hypomelanotic skin lesions
The boy's hair and skin color differences are due to a pigmentation disorder.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
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 Multiple perifollicular fibromas: report of a case and analysis of the literature
Multiple perifollicular fibromas may actually be unrecognized cases of Birt-Hogg-Dubé syndrome.
research Schimmelpenning Syndrome: A Neuro-Oculo-Cutaneous Disorder
Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
research Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
research Barraquer–Simons syndrome with benign infundibulocystic proliferation
Pimozide treatment resolved cysts and partially restored cheek fat in a man with Barraquer–Simons syndrome.
research Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”
"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
research Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure
Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.
research BG02 A case of Werner syndrome: undiagnosed progeroid syndrome presenting as female pattern hair loss
A person with Werner syndrome was initially thought to just have female pattern hair loss.
research Becker's Melanosis and Hypertrichosis*
Becker's Melanosis and Hypertrichosis mainly affects young males, causing brown skin patches and extra hair on one side of the upper body.
research Síndrome do nevo de Becker
The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.
research Corneal Limbal Microenvironment Can Induce Transdifferentiation of Hair Follicle Stem Cells into Corneal Epithelial-like Cells
Hair follicle stem cells can become corneal-like cells, potentially helping restore vision.
research An important role of cutaneous lymphatic vessels in coordinating and promoting anagen hair follicle growth
Skin lymphatic vessels are essential for hair growth.
research Body image and mental health in women with polycystic ovary syndrome–a cross-sectional study
Obesity and negative body image harm mental health and quality of life in women with PCOS.
research Sleep disorders and psychological comorbidities in women with polycystic ovary syndrome – a cross-sectional study
Women with PCOS often have sleep and mental health issues, especially if overweight or insulin resistant.
research Health-related quality of life and mental state in women with polycystic ovary syndrome and migration or minority background – A cross-sectional study
Women with PCOS from minority backgrounds have worse mental health and quality of life.
research 845 Dermal lymphatic vessels promote hair follicle growth via the BMP inhibitor Sostdc1
Dermal lymphatic vessels help hair growth by affecting hair cycle phases.
research Female sexual dysfunction
Many women experience sexual dysfunction, but few seek help, and better treatment and medical training are needed.
research Common Hair Problems: Dandruff and Androgenetic Alopecia
research Uncombable-hair Syndrome
Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
research Multiple pigmentierte Basaliome im Capillitium bei Myotonia dystrophia Curschmann-Steinert
A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
research Ugreelig hår
A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
research Folate receptor β performs an immune checkpoint function in activated macrophages
Folate receptor β helps suppress the immune system in macrophages and affects cancer growth and hair health.
research Clinical Applications of Extracellular Vesicles: Promises and Pitfalls
Extracellular vesicles show promise for medical use but face challenges in standardization and safety.