research Papillon–Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature
Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.
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research Metabolomic biomarkers in women with polycystic ovary syndrome: a pilot study
Certain metabolites are lower in women with PCOS and could be potential markers for the condition.
research Telogen hair loss and androgenetic‐like alopecia in GAPO syndrome
A boy with GAPO syndrome had hair loss similar to male pattern baldness without hormone issues, possibly due to skin or blood vessel problems.
research Comparison of prevalence of periodontal disease in women with polycystic ovary syndrome and healthy controls
Women with PCOS may be more likely to have gum disease than healthy women.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research The Effects of FemmeBalance Supplement on Symptoms of Premenstrual Syndrome: A Four-Cycle Single-Arm Observational Study of a Novel Nutritional Supplement
FemmeBalance supplement significantly improved PMS symptoms in women.
research Somatization in the dermatology patient: Some sociocultural perspectives
Skin symptoms without a medical cause often reflect psychological stress and are influenced by culture, requiring a team approach for treatment.
research Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice
Reduced matriptase activity causes skin and hair issues in both humans and mice.
research [Regression analysis of serum bone metabolic markers and traditional Chinese medicine syndromes in patients with CKD-MBD].
Mild changes in bone markers relate to TCM syndromes in CKD-MBD patients.
research Association between PITX2 polymorphism and androgenetic alopecia in the Indian population
Certain gene variations in PITX2 are linked to a higher risk of male pattern baldness in Indians.
research Hair Evaluation in Orthodontic Patients with Oligodontia
Most orthodontic patients with missing teeth also have hair disorders.
research Cushing's syndrome in the elderly: data from the European Registry on Cushing's syndrome
Older patients with Cushing's syndrome often have different symptoms and treatment outcomes compared to younger patients.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Can UK undergraduate dental programmes provide training in non-surgical facial aesthetics?
Most UK dental schools don't teach non-surgical facial aesthetics, but dentists have a good knowledge base to provide these services.
research Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research How to diagnose a lipodystrophy syndrome
The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.
research Non-apoptotic role for caspase-7 in hair follicles and the surrounding tissue
Caspase-7 has functions in skin and hair that are not related to cell death.
research GP85 The irish experience in paediatric parry romberg syndrome- a case series highlighting management and surgical outcomes
Children with Parry Romberg Syndrome had successful facial fat-grafting surgeries after disease stabilization with no complications.
research Syndromes of Severe Insulin Resistance (SSIRs)
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research Uncombable hair syndrome and beyond
Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
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 Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research Immune response involving the bulge region in addition to telogen conversion contributes to hair loss in a case of atypical drug-induced hypersensitivity syndrome
Hair loss in a drug reaction case involved both a common shedding phase and an immune attack on hair follicle stem cells.
research Effect gingivitis on anti-mullierian hormone in females with polycystic ovary syndrome
Gingivitis may increase a hormone linked to ovarian function in women with a certain ovary condition, and treating gum disease could help manage it.
research Cutaneous manifestations of polycystic ovary syndrome
Skin problems in PCOS, like excess hair, acne, and hair loss, may not always indicate high male hormone levels and need careful diagnosis for proper treatment.
research Generalised Gingival Fibromatosis and Hypertrichosis: A Rare Case of Syndromic Presentation
A 16-year-old girl with gum overgrowth and excessive hair growth had successful gum surgery and healed well.
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 Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Complex Regional Pain Syndrome Type I : measurements and treatment
CRPS I is complex, linked to immune and nerve issues, and needs comprehensive treatment.