research P422 : Eruptive syringoma: an unusual presentation with androgenetic alopecia
A 25-year-old man had an unusual case of benign skin tumors and hair loss.
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research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
research An endocrinopathy characterized by dysfunction of the pituitary-adrenal axis and alopecia universalis: supporting the entity of a triple H syndrome
Triple H syndrome exists and can vary in symptoms.
research 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research Sunitinib
A woman got male pattern baldness from touching her husband's testosterone gel.
research 5116 Postmenopausal Hyperandrogenism due to Rare Ovarian Tumor
Rare ovarian tumors can cause hyperandrogenism, even if imaging appears normal.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1
The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
research Testosterone enantate
A man developed hair loss from testosterone treatment but improved with additional medication.
research The Relationship between Early-onset Androgenetic Alopecia and Metabolic Syndrome: Systematic Review and Meta-Analysis
Early-onset male baldness is significantly linked to metabolic syndrome, suggesting those with early baldness should consider preventive treatment to reduce risk.
research Acrodermatitis Dysmetabolica with Concomitant Acquired Acrodermatitis Enteropathica in a Patient with Maple Syrup Urine Disease
MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.
research GENOTYPE ? PHENOTYPE CORRELATIONS IN CUTANEOUS MELANOMA PATIENTS CARRIER OF THE MITF p.E318K PATHOGENIC VARIANT
MITF+ melanoma patients are more likely to have multiple melanomas and unique skin patterns.
research Cellular Senescence and Aging in Myotonic Dystrophy
Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
research Focal perifollicular mucinosis of the eyelid presenting as a benign nevus
A rare skin condition was misdiagnosed as a harmless mole on a woman's eyelid.
research Molecular basis of androgen insensitivity
Mutations in the androgen receptor gene cause androgen insensitivity, leading to female traits in genetically male individuals.
research Virilising ovarian tumour in a woman with an adrenal nodule
A woman with high testosterone and an adrenal nodule had an ovarian tumor causing her symptoms, which improved after the tumor was removed.
research Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report
A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
research Monilethrix in pattern distribution in siblings: Diagnosis by trichoscopy
Trichoscopy can diagnose monilethrix, a genetic hair defect causing hair thinning and loss.
research Clinical features of non‐classical 21‐hydroxylase deficiency after normal newborn mass screening
Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
research P-19 A case of Birt Hogg Dube syndrome presented with parathyroid carcinoma
This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research SAT-240 Type B Insulin Resistance Resulting in Hyperthecosis in a Postmenopausal Woman
A woman's severe insulin resistance improved with treatment, but she still had high testosterone levels due to ovarian issues.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research 7696 Ovarian Steroid Cell Tumor Presenting as Non-classical Adrenal Hyperplasia
Early detection of ovarian steroid cell tumors is crucial to prevent lasting symptoms.
research LBMON232 A Hairy Situation: Ovarian Sex Cord Stromal Tumor As A Rare Cause Of Hyperandrogenism
A rare ovarian tumor caused high testosterone and excess hair in a woman, which was resolved after tumor removal.
research Delayed Puberty
A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
research Becker's nevus associated with chromosomal mosaicism and congenital adrenal hyperplasia
High androgen levels and genetic factors likely cause Becker's nevus and related symptoms.
research The association of androgenetic alopecia with metabolic syndrome: a case control study on Iranian population.
Androgenetic alopecia is linked to a higher risk of metabolic syndrome.