research Cutaneous Tumours of Pilar Origin with Associated Syndromes
Some skin tumors from hair follicles and glands can be linked to genetic syndromes and may be benign or malignant.
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research Endocrinopathies and Other Disorders Inducing a Polycystic Ovary Syndrome Phenotype
Some conditions mimic PCOS symptoms and need careful diagnosis to treat potentially serious health issues.
research Definitions, prevalence and symptoms of polycystic ovaries and polycystic ovary syndrome
Polycystic ovaries are defined by having 12 or more small follicles in each ovary and are found in up to 33% of women, while Polycystic Ovary Syndrome (PCOS) is the most common hormone disorder in women of reproductive age, potentially increasing risk of obesity, diabetes, and heart diseases.
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 Common variants in the sex hormone-binding globulin gene (SHBG) and polycystic ovary syndrome (PCOS) in Mediterranean women
Certain genetic variations in the SHBG gene are linked to an increased or decreased risk of PCOS in Mediterranean women.
research An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Cronkhite-Canada syndrome associated withmyelodysplastic syndrome
A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case
The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
research Tumour development in Lynch syndrome : genes load the gun, lifestyle pulls the trigger?
Lifestyle factors like BMI at young adulthood can increase cancer risk in women with Lynch Syndrome, but diet and height don't seem to affect this risk.
research Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review
DPR can show different hair characteristics, as seen in two brothers with normal hair.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma
A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research Research progress of gut microbiota and its metabolites in polycystic ovary syndrome
Gut microbiota may significantly influence polycystic ovary syndrome.
research S3886 Concurrent Management of Crohn's Ileitis and Alopecia Universalis With Upadacitinib
Upadacitinib improved both Crohn's ileitis and alopecia universalis in a patient.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
research Genetic basis of polycystic ovary syndrome
The document concludes that PCOS has a strong genetic component, but more research is needed to fully understand the specific genes involved.
research [Association of a pediatric bullous eruption, cutaneous and muscular atrophy, hyperpigmentation and dysmorphism. A new entity?].
The boy's symptoms suggest a possible new medical condition.
research Dietary and Genetic Aspects of Polycystic Ovary Syndrome (PCOS) in Polish Women-Part II: Association of
Genetic factors in PCOS are complex, with potential influences from the MC4R gene.
research Acquired Hypertrichosis Lanuginosa: A Rare Cutaneous Paraneoplastic Syndrome
research Multiomics-empowered Deep Phenotyping of Ulcerative Colitis Identifies Biomarker Signatures Reporting Functional Remission States
Microvascular damage and platelet issues persist in ulcerative colitis remission, helping assess disease states.
research 464 Phenotypic heterogeneity of epidermolysis bullosa associated with the recurrent pathogenic variant p.(Arg2000Trp) in plectin
The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
research Coexistence of psoriasis, and alopecia areata with trachyonychia in a pediatric patient with Turner Syndrome
A 6-year-old girl with Turner syndrome also had psoriasis, alopecia areata, and trachyonychia.
research Disrupted Pancreatic Exocrine Differentiation and Malabsorption in Response to Chronic Elevated Systemic Glucocorticoid
High glucocorticoids cause pancreatic malfunction and malabsorption, reversible with enzyme supplements.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Mouse Intestinal Krt15+ Crypt Cells Are Radio-Resistant and Tumor Initiating
Krt15+ cells in the mouse intestine resist radiation and can start tumors.
research Prevalence of CYP21 mutations and IRS1 variant among women with polycystic ovary syndrome and adrenal androgen excess
Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
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.