research Hair‐thread tourniquet syndrome
A hair strand caused a rare case of limb strangulation in a teenage girl with autism, and the condition is not always linked to child abuse.
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research Clinical analysis of 78 patients with non-classical 21-hydroxylase deficiency
Low-dose glucocorticoid treatment improves pregnancy and birth rates in women with nonclassical 21-hydroxylase deficiency.
research Biotinidase deficiency – clinching the diagnosis rapidly can make all the difference!
Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.
research Virilizing adrenocortical oncocytoma in a toddler
A toddler with a rare adrenal gland tumor causing male-like physical changes was successfully treated with surgery.
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 GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
research ODP423 Postmenopausal Virilization Secondary to A Rare Left Ovarian Androgen-Secreting Leydig Cell Tumor Localized Using Ovarian Vein Sampling
A woman's masculine symptoms were caused by a rare tumor in her left ovary, which was found using a special blood test.
research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research Acne keloidalis nuchae: risk factors and associated disorders – a retrospective study
The study suggests that acne keloidalis nuchae is linked to conditions like pseudofolliculitis barbae, scalp infections, metabolic syndrome, and is more common in males with an average onset age of 25.4 years.
research Ocular aspects in biotinidase deficiency Clinical and genetic original studies
Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.
research Successful Management of Netherton Syndrome Using IVIG and Dupilumab: A Case Report
IVIG and dupilumab effectively improved symptoms in a child with Netherton syndrome.
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research Ovarian hyperthecosis coexisting with an incidental adrenal lesion: challenges in the diagnostic approach
Using GnRHa agonists helps diagnose and treat ovarian hyperthecosis when surgery isn't possible.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Delayed Puberty
Delayed puberty often runs in families, can affect growth, and may need hormone treatment.
research Poikiloderma, hyperpigmentation, alopecia, hypohidrosis, malformed bones, lymphedema of the legs and decreased cortisol level: A new entity?
A new medical syndrome may include skin changes, hair loss, sweating issues, bone malformations, leg swelling, and low cortisol.
research An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves
A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.
research Clinical Case Notes. Intraorbital ophthalmic artery aneurysms
Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
research Das Cushing-Syndrom im Spiegel der Haut
Skin symptoms like fragile skin and easy bruising can indicate Cushing's syndrome, which requires early diagnosis and treatment to prevent serious health issues.
research Bilateral osteonecrosis of the femoral head associated with corticosteroid therapy for alopecia areata: a case report and review of the literature
Corticosteroid therapy for alopecia areata can cause severe hip bone damage.
research Hair Loss and Polyposis in Cronkhite-Canada Syndrome
Prednisone treatment helped a woman with Cronkhite-Canada syndrome recover from hair loss and digestive issues.
research Thrombophilia and Polycythemia in a Woman With Budd-Chiari Syndrome
A woman with Budd-Chiari syndrome improved after treatment and needs a liver transplant, highlighting the importance of considering non-criteria antiphospholipid syndrome in similar cases.
research Central Diabetes Insipidus and Hypothalamic Type of Hypopituitarism Associated with Atypical Location of Rathke's Cleft Cyst
A Rathke's cleft cyst caused hormonal imbalances and symptoms in a 68-year-old woman.
research Papular atrichia
An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
research Post-finasteride syndrome - a true clinical entity?
research Virilization beyond menopause: an uncommon ovarian tumor in an elderly patient with multimodality imaging and pathologic correlation
Surgery resolved hormone imbalance and symptoms in a rare ovarian tumor case in an elderly woman.
research Ectopic Adrenal Rests in Congenital Adrenal Hyperplasia as a Cause of Androgen Excess after Adrenalectomy Detected by Pelvic Venous Sampling
Ectopic adrenal rests can cause androgen excess after adrenalectomy and may need targeted surgery.
research Postmenopausal hyperandrogenism of ovarian origin
Postmenopausal women with excess male hormones may have ovarian tumors, and surgery usually cures them.
research Dramatic Clinical Improvement With Biotin Mega‐Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency
Biotin mega-dose therapy led to dramatic improvement in a newborn with a rare metabolic disorder.
research Cutaneous polyarteritis nodosa presenting with digital gangrene and breast ulcer
A young woman with severe symptoms of CPAN improved with intensive treatment but needed a leg amputation.