research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
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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 Index of Suspicion
Early diagnosis and treatment are crucial for complex medical conditions.
research Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice
Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
research A RARE ENCOUNTER
Surgical removal of an adrenal tumor resolved hormonal issues in a young woman.
research Scarring Alopecia
research El sistema español de autonomías territoriales: apuntes para un diagnóstico
Generalized trichoepitheliomas with alopecia may indicate myasthenia gravis.
research Association of Acne Tarda with Endocrinological Disorders
Adult acne is often related to hormonal disorders, especially in women, and may need long-term treatment involving specialists.
research Œdème angioneurotique sans anomalie de l’inhibiteur de la C1 estérase : efficacité de l’acide tranexamique
Tranexamic acid effectively reduced swelling episodes in a girl with a rare form of hereditary angioneurotic edema.
research Dermoscopy findings of the axilla of women with frontal fibrosing alopecia
Brownish halos around axillary hair can help diagnose frontal fibrosing alopecia.
research Clouston’s Syndrome-A Case Report
Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.
research An innovative technique of hydrosurgery in the treatment of osmidrosis
Hydrosurgery is effective, safe, and causes fewer scars and complications than traditional methods.
research Osseous Metaplasia and Mature Bone Formation With Extramedullary Hematopoiesis in Trichilemmal Cyst
Ossification in trichilemmal cysts is more common than previously believed.
research Acrodermatitis continua resistant to etanercept: Therapeutic challenge and Unfortunate outcome
A man with Acrodermatitis continua did not get better with etanercept treatment, and his condition worsened, suggesting treatment effectiveness may vary by genetics and race.
research Trichorrhexis Invaginata and Netherton’s Syndrome
Recognizing bamboo hair helps diagnose Netherton’s syndrome.
research Pyoderma gangrenosum associated with rheumatoid arthritis mimicking vasculitis
Pyoderma gangrenosum can occur in rheumatoid arthritis patients and may be mistaken for vasculitis.
research Fox-Fordyce Disease
The patient had a severe itchy rash and hair loss in the armpits.
research A Combination Flap for Repair of Eclabium
research Monilethrix with Acitretin
Acitretin improved monilethrix symptoms temporarily, but they returned after stopping treatment.
research Successful treatment of alopecia universalis with abrocitinib: a case report
Abrocitinib may effectively treat stubborn alopecia universalis.
research A case of androgen-secreting adrenal carcinoma with non-classical congenital adrenal hyperplasia
A woman with a rare adrenal tumor and hormonal disorder had improved testosterone levels after surgery, but her menstrual irregularities continued.
research The “spade sign” as a pathognomonic histopathologic feature of acne keloidalis: Analysis of 33 cases of cicatricial alopecia
The "spade sign" is a highly specific indicator for diagnosing acne keloidalis.
research NEW YORK DERMATOLOGICAL SOCIETY
The meeting highlighted the complexity and variability of skin conditions and differing opinions on their diagnoses and treatments.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Hyperaldosteronism and Hyperprogesteronism in a Cat
Cats with adrenal tumors may have both hyperaldosteronism and hyperprogesteronism.
research Efficient scarless skin regeneration enabled by loading micronized amnion in a bioinspired adhesive wound dressing
A new hydrogel with micronized amnion helps achieve better, scar-free skin healing.
research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
research Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report
Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
research Equine antral follicle containing cartilage and bone: ovarian teratoma
A mare had a functional ovary with a tumor containing cartilage and bone.
research Large pericardial effusion in a woman in the second trimester of pregnancy
Early surgical intervention and a multidisciplinary approach are crucial for managing complex cardio-obstetric patients.