research Myotonic Dystrophy—A Progeroid Disease?
Myotonic dystrophy may be classified as a segmental progeroid disorder.
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660-690 / 1000+ resultsresearch Abstract 1835: Development of mammary hyperplasia, dysplasia, and invasive ductal carcinoma in transgenic mice expressing the 8p11 amplicon oncogene NSD3 (WHSC1L1)
Overexpressing NSD3 in mice causes breast cancer-like tumors and gland abnormalities.
research Renal Carcinoma Presenting with Adrenocortical Insufficiency Due to a Pituitary Metastasis
A man's adrenal insufficiency was caused by a pituitary tumor linked to kidney cancer.
research Plasma Diaphanous Related Formin 1 Levels Are Associated with Altered Glucose Metabolism and Insulin Resistance in Patients with Polycystic Ovary Syndrome: A Case Control Study
Women with Polycystic Ovary Syndrome (PCOS) have lower levels of a substance called DIAPH1 in their blood, which is linked to changes in sugar metabolism and insulin resistance.
research Familial Uncombable Hair Syndrome: Ultrastructural Hair Study and Response to Biotin
Biotin improved hair appearance in uncombable hair syndrome but didn't change hair structure.
research Follicular dysplasia in two cows
Two cows had a rare hair disorder causing hair loss but were otherwise healthy.
research Clinical and molecular genetic studies in hereditary hair loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments.
Early genetic testing and new therapies like secukinumab are crucial for managing Netherton syndrome effectively.
research 062 A case of autoimmune facial swelling, weakness and sensorineuropathy with lower limb myositis
The woman's facial symptoms are best explained by primary Sjögren’s Syndrome.
research S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
research Satoyoshi Syndrome: Difficult to find or treat?
Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
research Alopecia in congenital hidrotic ectodermal dysplasia responding to treatment with a combination of topical minoxidil and tretinoin
Hair loss in Clouston's syndrome improved with minoxidil and tretinoin treatment.
research A 9-month-old infant with severe scalp dermatosis
The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
research Klinefelter syndrome and chronic leg ulcers
A man with Klinefelter syndrome had a leg ulcer that didn't heal well, even with treatment.
research A patient with combined polycystic ovary syndrome and autoimmune polyglandular syndrome type 2
A woman was the first known case to have both polycystic ovary syndrome and autoimmune polyglandular syndrome type 2, suggesting a need to check for both conditions in similar patients.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research A matter of excessive hair growth
A 72-year-old man with sudden taste issues and hair growth was diagnosed with a severe stomach cancer and died within 5 months.
research Hemoglobinopathy and Systemic Lupus: A Rare Association
Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.
research <p>Dupilumab side effect in a patient with atopic dermatitis: a case report study</p>
Dupilumab can cause rare side effects like a rash on the face and neck.
research Loose Anagen Hair Syndrome in an Indian Child with Trichoscopic Features
Loose anagen hair syndrome in children often resolves on its own.
research Dupilumab for alopecia areata treatment: A double‐edged sword?
Dupilumab can help hair regrowth but may also trigger alopecia areata.
research Hereditary mucoepithelial dysplasia: unique histopathological findings in skin lesions
The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
research 증례 : 모발의 황 농도 감소를 보인 모발유황이영양증
A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
research SUN-287 A Case of Ectopic Neurohypophysis
The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
research Practical Guidelines for Evaluation of Loose Anagen Hair Syndrome
Loose anagen hair syndrome, often affecting young girls, can be diagnosed with a hair-pull test and usually gets better on its own, but severe cases may need treatment.
research Dupilumab and Alopecia Areata: A Possible Combined or Disturbance Therapy? A Review of the Literature
Dupilumab may worsen Alopecia Areata in some males but improve it in some females, suggesting personalized treatment is needed.
research Rapunzel Syndrome as a Rare Presentation of Trichobezoar
A 16-year-old girl with a hair-eating disorder needed surgery to remove a hairball from her stomach and small bowel.
research Congenital Triangular Alopecia
Congenital triangular alopecia is a harmless, non-spreading hair loss condition often seen in young children.