research Abstracts
Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
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360-390 / 1000+ results research Polycystic ovary syndrome (PCOS) is associated with NASH severity and advanced fibrosis
Women with PCOS have more severe liver disease.
research Alopecia Universalis with Frequently Relapsing Nephrotic Syndrome of Infantile Onset: A Rare Presentation
A rare case links early-onset alopecia universalis and nephrotic syndrome, suggesting genetic immune issues.
research Serious Delayed Hair Toe Tourniquet Syndrome with Bone Erosion and Flexor Tendon Lesion
A baby's toe was severely damaged by a hair tourniquet, leading to bone and tendon damage, but improved after surgery and treatment.
research Ptosis in childhood
Childhood ptosis can vary from a minor cosmetic issue to a serious condition and may signal other health problems.
research Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia
Two cases showed skin abnormalities without bone or neural defects.
research Phenotypic variability associated withWNT10Anonsense mutations
WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
research Chronic Lupus Erythematosus and Systemic Scleroderma Coexistent at the Same Patient
A patient had both chronic lupus and systemic scleroderma, requiring careful treatment to manage symptoms.
research Msx2 Prevents Stratified Squamous Epithelium Formation in the Enamel Organ
Msx2 is essential for proper enamel formation by preventing abnormal cell transformation.
research Cronkhite–Canada Syndrome With Multiple Mesenteric Lymphadenopathy: A Case Report
Early diagnosis and treatment with corticosteroids can improve outcomes in Cronkhite–Canada syndrome.
research Familial Nonmembranous Aplasia Cutis of the Scalp
Some families have a genetic condition where they are born with irregular scalp defects.
research Necrobiosis Lipoidica
Necrobiosis lipoidica may need new criteria for accurate diagnosis due to similarities with another condition.
research Pseudo-Cushing Syndrome
Pseudo-Cushing's symptoms disappear once the underlying issue is resolved.
research Pediatric Sjögren’s Syndrome: Focus on Ocular Involvement and Diagnostic Challenges
Early diagnosis using eye tests and lab markers can improve treatment for pediatric Sjögren's syndrome.
research [Nevoid bundle hairs].
Naevoid bundle hair is an unusual hair growth pattern where multiple hairs fuse together.
research Trichothiodystrophy
Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
research Hypotrichosis in a child with olmsted syndrome
A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
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 A Filipino with Systemic Lupus Erythematosus-Scleroderma Overlap Syndrome
Recognizing and treating overlap syndrome in connective tissue diseases is crucial.
research Autoimmune Polyglandular Syndrome Type 3-D
Autoimmune Polyendocrine Syndromes involve specific combinations of autoimmune diseases.
research Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
research Modern trends in the variability of the mechanisms of formation and principles of diagnosis – Ganser syndrome
Ganser syndrome may result from both organic and psychogenic factors.
research NovelPAX9mutation associated with syndromic tooth agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
research Clinical Case Notes. Tamoxifen optic neuropathy
A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.
research Immunologic and Autoimmune-Related Sequelae of Severe Acute Respiratory Syndrome Coronavirus 2 Infection
research Cutaneous Keratocyst and Steatocystoma Unified as Sebaceous Duct Cyst, a Hamartoma Resembling the Sebaceous Duct
Cutaneous keratocyst and steatocystoma should be called "sebaceous duct cyst" due to their similarities.
research Alopecia associated with strontium ranelate use in a 62-year-old woman
A woman experienced hair loss after taking strontium ranelate for osteoporosis.
research The Significance of NOTCH Pathway in the Development of Fibrosis in Systemic Sclerosis
Blocking the NOTCH pathway can prevent fibrosis in systemic sclerosis.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research Cronkhite-Canada Syndrome Associated With Superficial Esophageal Carcinoma: A Case Report and Literature Review
Regular endoscopic checks are crucial for Cronkhite-Canada syndrome patients to catch potential cancers early.