research Netherton's Syndrome.
A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
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research BG01 Confirming small nuclear ribonucleoprotein polypeptide E as a cause of nonsyndromic hypotrichosis
The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.
research A rare case of poorly-differentiated endometrial carcinoma in a female-to-male transgender man on testosterone therapy
Transgender men on testosterone therapy need ongoing gynecologic care due to potential cancer risks.
research Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review
The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
research Trichoscopy in Unveiling the Triad of Netherton Syndrome
Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.
research Follicular mucinosis in association with Sezary syndrome
A patient with Sézary syndrome showed improvement after treatment and the study suggested follicular mucinosis might indicate future lymphoma risk.
research MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants
research Hiperandrogenismo causado por tumor de células de Leydig de ovario
A woman's excess male hormone symptoms were caused by a rare benign tumor in her ovary.
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 Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion
The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
research Association between testicular microlithiasis and primary malignancy of the testis: our experience and review of the literature
Testicular microlithiasis may increase the risk of testicular cancer and patients with it should be closely monitored.
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research Rare virilizing tumor: ovarian steroid cell tumor, not otherwise specified: a case report
A 20-year-old woman was found to have a rare ovarian tumor causing symptoms like acne and a low-pitched voice, which disappeared after the tumor was removed.
research Varying Presentation of Type 1 Polyglandular Failure in India
In India, most patients with type 1 autoimmune polyglandular failure show symptoms in a specific order, starting with parathyroid gland issues, then yeast infections, and finally adrenal gland failure.
research PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS)
NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
research AN ATTEMPT TO ASSESS THE MAGNITUDE OF ENDOGENOUS ANDROGEN PRODUCTION IN A CASE OF THE ADRENOGENITAL SYNDROME*
A 17-year-old female with adrenogenital syndrome produces very high levels of androgens, which prevent complete feminization despite high estrogen doses.
research Meis1 Regulates Epidermal Stem Cells and Is Required for Skin Tumorigenesis
Meis1 is crucial for skin health and tumor development.
research Nonclassic adrenal hyperplasia
Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.
research A Case of Hemi‐Isaac's Syndrome
A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
research Electron microscopic observation of skin and hair on a case of Netherton syndrome
Netherton syndrome causes specific skin and hair changes that help in early diagnosis.
research Metabolic syndrome in androgenetic alopecia patients; Is serum regulated on activation, normal T‐cell expressed and secreted the missing link?
Possible link between hair loss and metabolic syndrome, with RANTES as a potential clue.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
research Adult-onset Satoyoshi syndrome in a young male
A rare autoimmune condition, Satoyoshi syndrome, can start in adults and improve with immunosuppressive treatment.
research Unraveling a Rare Case: Diarrhea, Alopecia, and Polyposis
Corticosteroids improved symptoms in a man with Cronkhite-Canada Syndrome.
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research Rabson-Mendenhall syndrome: two case reports and a brief review of the literature
The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
research Is there male androgenetic alopecia the sign of male equivalent of polycystic ovary syndrome or metabolic syndrome
Men with early hair loss and hormonal changes like PCOS could be the male equivalent of PCOS, not linked to metabolic syndrome.
research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.