research An Atypical Initial Manifestation of Systemic Lupus Erythematosus: Lupus Enteritis Accompanied by Intestinal Pseudo-Obstruction and Bilateral Hydronephroureter
A woman with lupus had rare severe symptoms but improved with treatment.
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690-720 / 1000+ results research Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin
Progerin affects cell shape but not hair or skin in mice.
research Marie Unna hereditary hypotrichosis: Identification of a U2HR mutation in the family from the original 1925 report
Researchers found a gene mutation responsible for a rare hair loss condition.
research ROBERTSONIAN TRANSLOCATION PATIENT WITH RECURRENT MISCARRIAGE
Robertsonian translocation can cause recurrent miscarriages.
research CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
research Le mélanome malin bilatéral de l'uvée
Apoptosis in hair follicles spreads through cell death signals, with stem cells slowing the process.
research Congenital triangular alopecia
Congenital triangular alopecia is more common than thought and some treatments can be beneficial for appearance concerns.
research Association of single nucleotide polymorphisms in the RAB5B gene 3′UTR region with polycystic ovary syndrome in Chinese Han women
Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
research Castleman’s Disease Combined with the Development of Systemic Lupus Erythematosus
A 16-year-old boy with Castleman's disease and lupus was successfully treated and showed no recurrence.
research Cronkhite–Canada Syndrome With Multiple Mesenteric Lymphadenopathy: A Case Report
Early diagnosis and treatment with corticosteroids can improve outcomes in Cronkhite–Canada syndrome.
research For early diagnosis of young patients with Werner syndrome: Indication for genetic testing
Genetic testing is recommended for young patients showing signs like cataracts and hair changes to diagnose Werner syndrome early.
research THE PATTERN OF SILVER-RUSSELL SYNDROME: OWN OBSERVATION
A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
research Cronkhite-Canada Syndrome Associated With Superficial Esophageal Carcinoma: A Case Report and Literature Review
Regular endoscopic checks are crucial for Cronkhite-Canada syndrome patients to catch potential cancers early.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
research Alopecia areata and Down syndrome: A true association and the importance of dermoscopic diagnosis
People with Down syndrome are more likely to experience hair loss, and using dermoscopy can help diagnose it.
research Early onset of alopecia areata after dupilumab introduction in a patient with atopic dermatitis
research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
research Successful treatment of fungal ball‐associated tinea capitis in a healthy infant: An unusual presentation
Tinea capitis should be considered for scalp infections in infants.
research TRICHOSTASIS SPINULOSA OR PINSELHAAR
Trichostasis spinulosa is a rare skin condition with hair-filled plugs in hair follicles.
research Abstracts
Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
research Alopecia areata. How not to miss S atoyoshi syndrome?
Patients with alopecia areata should be checked for muscle spasms, diarrhea, and ANA to avoid missing Satoyoshi syndrome.
research BULLOUS LUPUS, AN UNCOMMON CAUSE OF ATYPICAL ESOPHAGITIS: A CASE REPORT
Bullous lupus can cause severe esophageal issues but responds well to corticosteroids and azathioprine.
research Frontal fibrosing alopecia and lichen planus pigmentosus: is there a link?
There may be a connection between Frontal Fibrosing Alopecia and Lichen Planus Pigmentosus, and more research is needed to confirm this.
research 1748 IS ANDROGENETIC ALOPECIA ASSOCIATED WITH BENIGN PROSTATIC HYPERPLASIA? ANALYSIS OF 907 PATIENTS
Hair loss is linked to higher prostate-specific antigen levels and urinary symptoms, likely due to age.
research GP85 The irish experience in paediatric parry romberg syndrome- a case series highlighting management and surgical outcomes
Children with Parry Romberg Syndrome had successful facial fat-grafting surgeries after disease stabilization with no complications.
research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research Evaluation of body dysmorphic disorder in hair loss patients and benefit after hair restoration
Hair transplant improved self-perception in hair loss patients, but some still remained overly focused on their hair appearance.
research Navigating Rhupus Complexity
Rhupus is a complex syndrome that is hard to diagnose due to unclear clinical criteria.
research Trusting your gut: a hairy situation—gastric trichobezoar case report
Consider trichobezoars in young girls with vague symptoms for accurate diagnosis.
research Abstract 2469: Increased cathepsin B expression in cultured tuberous sclerosis skin tumor cells and patient tumor tissues
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.