research A newborn presenting with congenital blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
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research Clinical case of Vogt–Koyanagi–Harada syndrome
Early treatment with corticosteroids improved her eye condition significantly.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research PPAR-γ Agonists and Their Role in Primary Cicatricial Alopecia
PPAR-γ helps control skin oil glands and inflammation, and its disruption can cause hair loss diseases.
research Cronkhite-Canada Syndrome: A Case Report and Literature Review of Gastrointestinal Polyposis Syndrome
Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.
research Oral gabapentin for scalp pruritus in patients with lichen planopilaris: A case series
Gabapentin may help relieve itchy scalp in lichen planopilaris patients.
research Strange cutaneous abnormalities and polyposis in an Asiatic man
A Laotian man with unusual skin changes and multiple growths in his gut was diagnosed with Cronkhite-Canada Syndrome and improved with nutritional and immune-based treatments.
research HAIR BANDS IN FACIO‐GENITO‐POPLITEAL SYNDROME
Hair bands are a new symptom of facio-genito-popliteal syndrome.
research The effect of gonadoliberin analog treatment in precocious puberty on polycystic ovarian syndrome prevalence in adulthood
Treating early puberty with hormone therapy may increase the risk of polycystic ovary syndrome in adults.
research Use of platelet-rich plasma in lichen planopilaris and its variants: A retrospective case series demonstrating treatment tolerability without koebnerization
Platelet-rich plasma is tolerable for lichen planopilaris and doesn't worsen the condition, but its effectiveness is unclear.
research Loss of adipocyte phospholipase gene PLAAT3 causes lipodystrophy and insulin resistance due to inactivated arachidonic acid-mediated PPARγ signaling
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
research Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type
Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
research Spontaneous Quick Resolution of Uncombable Hair Syndrome-Like Disease
A boy's hair that was frizzy and hard to comb returned to normal after 9 months, possibly due to genetic factors.
research A Case of Familial Male-limited Precocious Puberty with a Novel Mutation
A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
research Granulomatous pigmented purpuric dermatosis containing Propionibacterium acnes
A medication may help with hair growth in psoriasis, and a skin condition might be linked to a specific bacteria.
research Barraquer–Simons syndrome with benign infundibulocystic proliferation
Pimozide treatment resolved cysts and partially restored cheek fat in a man with Barraquer–Simons syndrome.
research Differentiating pulmonary lymphangioleiomyomatosis from pulmonary langerhans cell histiocytosis and Birt-Hogg-Dube syndrome
Radiological findings help distinguish LAM, PLCH, and BHD to avoid invasive tests.
research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Whitaker syndrome: A case report of autoimmune polyendocrine syndrome type 1 with dilated cardiomyopathy
Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.
research Lichen planopilaris: retrospective study on the characteristics and treatment of 291 patients
Women are more likely to have Lichen planopilaris, and treatments with cyclosporine and methotrexate are most effective but less safe than mycophenolate mofetil.
research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research An Australian family with macular dystrophy linked to autosomal recessive alopecia universalis
An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.
research Lichen Planopilaris Responsive to a Novel Phytoactive Botanical Treatment: A Case Series
A new botanical treatment improved hair growth and symptoms in lichen planopilaris patients.
research Lichen planus – A refractory autoimmune disorder
Lichen planus is a chronic autoimmune disease that is hard to treat and more common in women.
research Association of lichen planopilaris with seborrheic dermatitis: A retrospective case-control study
People with lichen planopilaris often have seborrheic dermatitis, which can delay the diagnosis of lichen planopilaris.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research Semaglutide-Induced Atypical Pustular Drug Eruption: A Case Report
A rash from semaglutide may be due to propylene glycol, not the drug itself.
research Identificación de la variación molecular y genética subyacente a las enfermedades de la piel
Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
research Central nervous system involvement in autoimmune polyglandular syndrome
Autoimmune polyglandular syndrome can cause temporary brain issues that may improve on their own.
research The use of oral pioglitazone in the treatment of lichen planopilaris
Pioglitazone may help treat lichen planopilaris, but more research is needed.