research Dermatopathia Pigmentosa Reticularis with Salzmann’s nodular degeneration of cornea: A rare association
An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
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930-960 / 1000+ results research Uncombable hair (pili trianguli et Canaliculi): Evidence for dominant inheritance with complete penetrance based on scanning electron microscopy
Uncombable hair is inherited dominantly with complete penetrance.
research Diffuse Gastrointestinal Polyposis With Skin, Hair, and Nail Changes
A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.
research SAT367 A Rare Case of Ovarian Cellular Fibroma Producing Testosterone
A woman's ovarian fibroma caused high testosterone levels, which normalized after surgery.
research Androgenic alopecia and hirsutism in a 73-year-old woman: careful re-evaluation of 'normal' imaging findings may lead to a rare diagnosis
A 73-year-old woman's unusual hair loss and growth led to the discovery of a rare condition causing too much testosterone, which improved after her ovaries were removed.
research Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity
Patients with RASopathies are at risk for autoimmune disorders and should be routinely screened.
research Syndromes of Severe Insulin Resistance (SSIRs)
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research A patient with combined polycystic ovary syndrome and autoimmune polyglandular syndrome type 2
A woman was the first known case to have both polycystic ovary syndrome and autoimmune polyglandular syndrome type 2, suggesting a need to check for both conditions in similar patients.
research TRICHOSTASIS SPINULOSA
Trichostasis spinulosa mainly affects the nose, with many tiny hairs in one follicle, possibly influenced by hormones and sunlight.
research Rapidly progressing mycosis fungoides presenting as follicular mucinosis
Follicular mucinosis can be an early sign of aggressive mycosis fungoides.
research Ovarian Hilus Cell Hyperplasia and Sertoli-Leydig Cell Tumor in a Patient with Postmenopausal Virilization: a Rare Case Report
A woman's male-like physical changes were caused by two rare ovarian conditions.
research A Very Unusual Cause of Diarrhea in a 60-Year-Old Man
The man's diarrhea was caused by a rare disorder called Cronkhite-Canada syndrome, which improved with specific medications.
research Poster Presentations
Hair disorders are complex and varied, with diverse treatments available.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research Micturitional disturbance in a patient with adrenomyeloneuropathy (AMN)
Adrenomyeloneuropathy (AMN) can cause bladder problems due to nerve damage.
research Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
research Novel KRT 83 and KRT 86 mutations associated with monilethrix
New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
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 Wanita dengan Sindrom Rupus : Lupus Eritematosus Sistemik dan Artritis Reumatoid
A 29-year-old woman with symptoms of both lupus and rheumatoid arthritis improved with specific medications.
research Is dehydroepiandrosterone a hormone?
Dehydroepiandrosterone (DHEA) is a prohormone important for producing sex steroids and has potential health benefits.
research Recent Understandings of Biology, Prophylaxis and Treatment Strategies for Hypertrophic Scars and Keloids
The document concludes that the understanding of scar formation is incomplete and current prevention and treatment for hypertrophic scars and keloids are not fully effective.
research Penetration of drugs through skin, a complex rate-controlling membrane
The skin is a complex barrier for drug penetration, but understanding its structure and interactions can improve drug delivery methods.
research Gender-linked differences in human skin
Male and female skin differ in many ways, which could lead to gender-specific skin treatments.
research Cutaneous adverse effects of targeted therapies
Targeted cancer therapies often cause serious skin problems that need careful management.
research Gender differences in skin: A review of the literature
Male and female skin differ due to hormones, affecting conditions like hair loss, acne, and skin cancer, and suggesting a need for gender-specific treatments.
research Increased copy number of the TERT and TERC telomerase subunit genes in cancer cells
Cancer cells often have more copies of TERT and TERC genes, which helps them grow and could affect patient outcomes.
research Oxidative Stress–Associated Senescence in Dermal Papilla Cells of Men with Androgenetic Alopecia
Oxidative stress affects hair loss in men with androgenetic alopecia.
research Diversification and Specialization of Touch Receptors in Skin
Skin has specialized touch receptors that can tell different sensations apart.
research Short-Chain Fatty Acids from Cutibacterium acnes Activate Both a Canonical and Epigenetic Inflammatory Response in Human Sebocytes
Short-chain fatty acids from *Cutibacterium acnes* cause skin inflammation, contributing to acne.