research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
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510-540 / 1000+ results research Trichostasis spinulosa: An overlooked entity
Trichostasis spinulosa is a common but often unnoticed skin condition involving bundled vellus hairs, especially in people with darker skin or UV exposure.
research Trichorrhexis nodosa. Clinical and investigative studies
Trichorrhexis nodosa is mainly caused by hair trauma, not a metabolic defect.
research Coexisting trichorrhexis nodosa and pili annulati: a case report of hair shaft abnormalities in a syrian family
A 23-year-old Syrian woman has two rare hair disorders, and avoiding hair treatments plus using vitamins and minoxidil may help.
research Exome analysis for Cronkhite-Canada syndrome: A case report
Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
research Folliculitis decalvans and orofacial granulomatosis
Treatment with dapsone, topical corticosteroids, and antibiotics improved the man's skin conditions.
research Hyperandrogenism-Insulin Resistance-Acanthosis Nigricans Syndrome
The document concludes that HAIR-AN syndrome should be considered when a patient shows severe hyperandrogenism and insulin resistance after excluding tumors.
research An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery
Early diagnosis and multidisciplinary care, including orthopedic surgery, can prevent long-term disability in IFAP syndrome.
research Severe onycholysis in a card illusionist with alopecia areata universalis
Systemic steroids effectively treated severe nail issues in a card illusionist with alopecia areata.
research Clinical management of patients withASXL1mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance
Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
research Advances in genetic and molecular understanding of Omenn syndrome - implications for the future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
research Double-Lined Frontoparietal Scleroderma en coup de sabre
The condition might be caused by genetic changes after birth.
research Impaired Notch‐MKP ‐1 signalling in hidradenitis suppurativa: an approach to pathogenesis by evidence from translational biology
Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.
research Nevoid Basal Cell Carcinoma Syndrome
Nevoid basal cell carcinomas start in the skin and hair follicles.
research GLOMERULAR MEMBRANOUS NEPHROPATHY AND WERNER SYNDROME: A CASE REPORT
A potential genetic link between Werner syndrome and kidney disease was suggested.
research Bilateral facial nerve palsy associated with p-ANCA positive vasculitis in a patient with rheumatoid arthritis
Rheumatoid arthritis can rarely cause bilateral facial nerve palsy linked to p-ANCA positive vasculitis.
research Alopecia universalis and Kallman’s Syndrome
A woman with Kallman's syndrome also developed alopecia universalis, a condition not previously linked to Kallman's.
research Steroid sulfatase inhibitors
Steroid sulfatase inhibitors could potentially treat hormone-related disorders like certain cancers, hair loss, acne, and improve cognitive dysfunction.
research Pilomatricoma with Florid Osseous Metaplasia: A Cytologist’s Perspective
A rare skin tumor with bone formation was successfully removed without recurrence.
research A Forty-Two-Year-Old Male with Multiple Gastrointestinal Polyps, Cutaneous Manifestations, and Nail Dystrophy
The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.
research Pathologic Quiz Case: An Anterior Neck Mass in a 5-Month-Old Female Infant
The neck mass was a rare benign "wattle," surgically removed for diagnosis and appearance.
research LOOSE ANAGEN SYNDROME AND LOOSE ANAGEN HAIR
Loose Anagen Syndrome causes easy-to-pull, thin hair, mainly in young girls, and improves with age.
research Severe Physical Complications among Survivors of Stevens–Johnson Syndrome and Toxic Epidermal Necrolysis
SJS/TEN survivors often have severe, overlooked long-term physical problems that are not properly treated after leaving the hospital.
research Uveodermatological syndrome in dogs: A review of diagnosis, management, and ophthalmic patient needs
Uveodermatological syndrome in dogs is hard to manage and can lead to blindness despite treatment.
research Metabolic syndrome
Metabolic syndrome can cause serious health issues and should be considered when treating women with severe acne.
research Cisd2 deficiency impairs neutrophil function by regulating calcium homeostasis via Calnexin and SERCA
Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
research Pyoderma Gangrenosum with Neurofibromatosis: Understanding a Possible Relationship and Identifying Risk with Immunosuppressants
The document suggests doctors should watch for bone marrow suppression and severe hair loss in patients treated with Azathioprine.
research Alopecic and aseptic nodules of the scalp: A new case with a systematic review of the literature
Alopecic and aseptic nodules of the scalp are rare, treatable, and often resolve with doxycycline or on their own.
research ORAL CHRONIC ULCER: A DIAGNOSIS CHALLENGE
Diagnosing oral ulcers can be complex and requires careful examination and follow-up.
research The sternum reconstruction: Present and future perspectives
New techniques and materials improve sternum reconstruction and patient quality of life.