research Nevoid basal carcinoma syndrome (Gorlin syndrome) and pronounced androgenic alopecia in a woman with a novel mutation p.Leu1159fsx32 in the PTCH gene
A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
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330-360 / 1000+ results research Gomez?Lopez?Hernandez syndrome: another consideration in focal congenital alopecia
Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
research Iatrogenic Cushing's Syndrome in a Patient With Salt-Wasting Congenital Adrenal Hyperplasia (SWCAH)
A patient with congenital adrenal hyperplasia improved after adjusting her medication to prevent Cushing's syndrome symptoms.
research At the Root: Cutaneous Langerhans Cell Histiocytosis
A woman's long-term scalp issues were diagnosed as a rare skin disorder called cutaneous Langerhans cell histiocytosis.
research Clinical and Trichoscopy Features in Trichorhinophalangeal Syndrome: A Multicenter Retrospective Study
Hair changes and a high occipital hairline may help diagnose Trichorhinophalangeal Syndrome.
research Prolonged Drug-Induced Hypersensitivity Syndrome/DRESS With Alopecia Areata and Autoimmune Thyroiditis
A severe medication reaction required long treatment and led to hair loss and thyroid issues.
research Transient heart failure in an adult with kawasaki disease
An adult with Kawasaki disease experienced temporary heart failure but recovered without lasting heart damage.
research P44 The presentation of systemic erythematous lupus with Kikuchi-Fujimoto disease
A woman with lupus and Kikuchi-Fujimoto disease improved with treatment.
research A Rare Case Report of Congenital Adrenal Hyperplasia: 46XX at Tertiary Care Centre, Visnagar, North Gujarat.
A 22-year-old woman with a rare genetic condition was successfully treated to develop normal female characteristics and regular menstruation.
research FRI220 Primary Bilateral Macronodular Adrenal Hyperplasia: A Rare Cause Of Cushing Syndrome
A rare case of Cushing syndrome was successfully treated with one-sided adrenal gland removal, suggesting personalized treatment is important.
research Chinese SLE Treatment and Research group (CSTAR) registry 2009–2019: Major clinical characteristics of Chinese patients with systemic lupus erythematosus
Chinese patients with systemic lupus erythematosus commonly experience oral ulcers, arthritis, alopecia, skin rash, and nephritis.
research Endocrinology and auxology of sibships with non-classical congenital adrenal hyperplasia.
Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.
research Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research Clinical case of Vogt–Koyanagi–Harada syndrome
Early treatment with corticosteroids improved her eye condition significantly.
research PLACK syndrome associated with alopecia areata and a novel homozygous base pair insertion in exon 18 of CAST gene
A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
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 Primary and Secondary Disturbances in Trace Element Metabolism Connected with Genetic Metabolic Disorders
Genetic disorders can disrupt mineral and trace element metabolism, affecting health.
research Ichthyosis and Trichothiodystrophy: the Tay and PIBI(D)S Syndromes
Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
research Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
research A Rare Case of Severe Acrodermatitis Enteropathica During Covid-19 Lockdown.
A boy with a rare skin condition improved quickly after starting zinc supplements.
research Renal tubular dysfunction presenting as recurrent hypokalemic periodic quadriparesis in systemic lupus erythematosus
A woman with lupus had muscle weakness due to kidney issues and was successfully treated with medication.
research O19 CYLD cutaneous syndrome tumours demonstrate increased NF-κB signalling and diminished collagen organisation.
Skin tumors with CYLD cutaneous syndrome show more NF-κB activity and less organized collagen.
research Birt–Hogg–Dubé syndrome
Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
research Peculiarities of long-COVID-19 and treatment strategy: a clinical case
Long-COVID can cause lasting symptoms, but treatment with Erbisol drugs may help.
research Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
research Index of Suspicion
Early diagnosis and treatment are crucial for complex medical conditions.
research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
research Early Onset of Central Centrifugal Cicatricial Alopecia (CCCA) in Pediatric Patients: An Underrecognized Diagnosis
CCCA can occur in children and needs early diagnosis to prevent permanent hair loss.