research Commonly associated disorders with complete scalp alopecia in early childhood: A review
Six genetic conditions are often linked to complete scalp hair loss in children.
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research Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome
Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
research Poikiloderma, hyperpigmentation, alopecia, hypohidrosis, malformed bones, lymphedema of the legs and decreased cortisol level: A new entity?
A new medical syndrome may include skin changes, hair loss, sweating issues, bone malformations, leg swelling, and low cortisol.
research Transforming growth factor-β in stem cells and tissue homeostasis
TGF-β is crucial for tissue repair and can cause diseases if not properly regulated.
research Coordinating the Sculptors: Ectodysplasin-A (EDA) Signaling Cross-Talk with Skeletogenic Pathways
EDA is vital for bone and cartilage formation and could help treat skeletal disorders.
research Myeloma, Paraproteinemias, and the Skin
Skin conditions in multiple myeloma patients vary with the timing of bone marrow transplants.
research Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
New mutations in the hairless gene may cause hair loss and affect bone development.
research A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report
A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
research Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research Wnt10a Is a Candidate as a Non-Cellular Agent for Induction of Dental Pulp Regeneration with Dentine-Inducing Capacity.
Wnt10a may help regenerate dental pulp and form dentine.
research Minoxidil Cannot Be Used To Target Lysyl Hydroxylases during Postnatal Mouse Lung Development: A Cautionary Note
Minoxidil does not work to inhibit lysyl hydroxylases in newborn mouse lungs.
research Mechanism of action of bolandiol (19-nortestosterone-3β,17β-diol), a unique anabolic steroid with androgenic, estrogenic, and progestational activities
Bolandiol, a synthetic steroid, builds muscle and bone without greatly affecting sex glands, and works differently from other hormones.
research Side effects of vitamins, amino acids, nutrition, and complementary and alternative medicine
Some vitamins, amino acids, and alternative medicines can cause serious side effects, including bone, muscle, and skin issues, and healthcare professionals should be aware of these risks.
research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
research iRhom2 Mutation Leads to Aberrant Hair Follicle Differentiation in Mice
A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
research Polyglandular Syndrome Type 1 Complicated with Dilated Cardiomyopathy: A Case Report
A 27-year-old with APS-1 showed improvement in symptoms after treatment.
research SAT-510 Association of Myotonic Dystrophy with Autoimmune Endocrinopathies and Thyroid Carcinoma
A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.
research LB1601 Dermatomyositis-related panniculitis of the neck
A woman with dermatomyositis improved after treatment for neck panniculitis, suggesting similar treatment for related conditions.
research Oligosecretory multiple myeloma: Unusual presentation of a rare clinical disease
A woman with a rare form of multiple myeloma had a headache and a skull mass, which led to her diagnosis after tests and a biopsy.
research Targeting the Wnt pathways for therapies
Blocking the Wnt pathway could lead to new treatments for cancer and tissue repair but requires careful development to avoid side effects.
research WNT Signaling in Disease
The WNT signaling pathway is important in many diseases and targeting it could offer new treatments.
research Acne as a chronic systemic disease
Acne is a chronic disease linked to various systemic conditions and has significant psychological and social effects.
research Footprints of the EADV: a meeting report from the 17th Congress of the European Academy of Dermatology and Venereology
The conference highlighted new dermatological treatments and emphasized early intervention and addressing conditions lacking evidence-based treatments.
research THE PEDIATRICIAN AND THE SEXUALLY ACTIVE ADOLESCENT
Pediatricians should advise sexually active teens on safe sex and STD prevention, and discuss contraceptive options and their side effects.
research Excellent Short- and Medium-term Result of Bariatric Surgery in Adolescence. A Single Center Study
Bariatric surgery is safe and effective for treating adolescent obesity.
research An Intensive Study on Curcuma longa and Dalbergia sissoo as Possible Promising Combination for the Treatment of Various Ailments
Curcuma longa and Dalbergia sissoo may work well together to treat inflammation, stress, and cancer.
research Dormant tumor cells in ret transgenic mouse melanoma model and their interaction with memory T cells
Dormant melanoma cells in mice interact minimally with memory T cells due to a suppressive tumor environment.
research Congenital Adrenal Hyperplasia
The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
research The Skin and Subcutaneous Tissues
The document concludes that skin and nail changes can indicate various underlying health conditions.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.