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.
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research Association of insulin-like growth factor 2 Apa1 A820G gene (rs680) polymorphism with polycystic ovarian syndrome
A certain gene variation is linked to a higher risk of polycystic ovarian syndrome in South Indian women.
research Post-partum pituitary insufficiency and livedo reticularis presenting a diagnostic challenge in a resource limited setting in Tanzania: a case report, clinical discussion and brief review of existing literature
Early diagnosis and hormone therapy can significantly improve outcomes for post-partum pituitary insufficiency in resource-limited settings.
research A Case of Sheehan Syndrome Presenting with Pancytopenia and Dilated Cardiomyopathy: A Rare Combination
A woman with Sheehan syndrome improved with hormone treatment.
research A Rare Case of Adolescent Girl with Beard-PCOS with a Difference: “HAIR-AN Syndrome”
A 16-year-old girl with HAIR-AN syndrome was treated with lifestyle changes and medications to manage her condition.
research Dual improvement of alopecia areata and immune thrombocytopenia with baricitinib: a case report
Baricitinib may effectively treat both alopecia areata and immune thrombocytopenia.
research 91. Association of Pilonidal Disease with Polycystic Ovarian Syndrome in Adolescent Females
Girls with Pilonidal Disease are more likely to have Polycystic Ovarian Syndrome, and treating PCOS may reduce the need for PD intervention.
research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
research Lentiginosis within plaques of linear atrophoderma of Moulin: a twin-spotting phenomenon?
The document suggests a rare skin condition might be caused by a genetic phenomenon.
research Multiple Autoimmune Syndrome With Alopecia Universalis and Immune Thrombocytopenic Purpura
A man with four autoimmune diseases suggests a new category for multiple autoimmune syndrome.
research The Pilocutaneous Syndrome of Menopause
Menopause can cause skin and hair changes like dryness, thinning, and hair loss.
research A Forty-Two-Year-Old Male with Multiple Gastrointestinal Polyps, Cutaneous Manifestations, and Nail Dystrophy
The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.
research Central nervous system involvement in autoimmune polyglandular syndrome
Autoimmune polyglandular syndrome can cause temporary brain issues that may improve on their own.
research Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
research Monilethrix: Beaded hair and hypotrichosis in a child
A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
research Exome analysis for Cronkhite-Canada syndrome: A case report
Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
research Identification of novel mutation in theHRgene responsible for atrichia with papular lesions in a Pakistani family
Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
research Association of insulin resistance with polycystic ovary syndrome phenotypes and patients’ characteristics: a cross-sectional study in Iran
Most women with PCOS have insulin resistance, especially those with phenotype B.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research 034 Characterization of novel TMEM173 mutation causing a lupus- and SAVI-like phenotype, modified by polymorphisms in TMEM173 and IFIH1
A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
research Phenobarbital
A woman experienced unusual hair loss and skin reactions after taking phenobarbital, but her hair grew back after treatment.
research Hair casts or pseudonits
Hair casts, also called pseudonits, are often mistaken for other conditions.
research CYSTIC ENDOMETRIAL HYPERPLASIA AND BACTERIAL ENDOMETRITIS ASSOCIATED WITH AN INTRAUTERINE FOREIGN BODY IN A GUINEA PIG WITH OVARIAN CYSTIC DISEASE
A guinea pig with ovarian cysts had a uterine infection and abnormal uterus lining due to a piece of hay inside it.
research Ocular manifestation in progeria: A case report
A boy with progeria had eye problems and signs of aging like hair loss and skin wrinkling.
research A case of antilaminin 332 mucous membrane pemphigoid showing a blister on the bulbar conjunctiva and a unique epitope on the α3 subunit
A woman with a rare autoimmune disorder had a blister on her eye and unique immune reaction, which was effectively treated with medication.
research A Case of Satoyoshi Syndrome: A Multisystem Disorder
Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.
research Atrichia with papular lesions in Syrian siblings exposing global diagnostic challenges in genetic alopecia: A rare case report
Atrichia with papular lesions causes irreversible hair loss from infancy and is often misdiagnosed.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research 42761 The elusive BAP1 mutation in pediatric melanocytic tumors
BAP1 mutations are rare in pediatric melanocytic tumors and may develop later in life.
research Immunological Skin Diseases
Immunological skin diseases in pigs are rare and can be caused by immune system issues or external factors.