research THE PATTERN OF SILVER-RUSSELL SYNDROME: OWN OBSERVATION
A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
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540-570 / 1000+ results research Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin
Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
research Marie-unna hereditary hypotrichosis
A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
research Grahams Little Piccardi Lausseur Syndrome - A Rare Case Report with Review of Literature
Early diagnosis of GLPLS is crucial to prevent complications, but scarring alopecia is irreversible.
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 A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Viral-Associated Trichodysplasia of Immunosuppression
A 5-year-old boy's skin condition improved with systemic valganciclovir after a cardiac transplant and immunosuppressive therapy.
research CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
research Hypotrichosis in a child with olmsted syndrome
A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
research Papillon-Lefévre Syndrome: A Rare Case Report and a Brief Review of Literature
Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
research A newborn presenting with congenital blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
research Protein kinase C is a key target for attenuation of Leigh syndrome by rapamycin
Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
research Ulerythema Ophryogenes
Treatment with vitamin A did not improve the child's skin condition.
research METHOTREXATE FOR GENERALIZED PUSTULAR PSORIASIS IN A 2-YEAR-OLD CHILD
Methotrexate effectively treated a 2-year-old's generalized pustular psoriasis without side effects.
research SAT-214 Satoyoshi Syndrome: A Rare Cause of Premature Ovarian Failure
Satoyoshi syndrome can occur without causing premature ovarian failure.
research Metabolic disease with autoimmune phenomena: 2 cases of SLE-like disease in young children diagnosed with lysinuric protein intolerance
Two children with lysinuric protein intolerance showed symptoms similar to lupus.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research Monilethrix: Beaded hair and hypotrichosis in a child
A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
research Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism
PAON shows skin patterns due to genetic mosaicism.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Index of Suspicion
A boy with long QT syndrome was treated successfully, highlighting the need for careful evaluation of chest pain in children for heart conditions like LQTS.
research Bamboo Hair Syndrome or Netherton Syndrome - A Case Report
Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
research Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
research Hair Burning Syncope
Using hot curling irons and hair gels can cause seizures in young black girls during hair grooming.
research Epigenetic Regulation of Medulloblastoma Proliferation by Finasteride-Induced Modulation of BTG2 and CD244 Gene Methylation
Finasteride may help treat childhood brain tumors by activating certain genes.
research 34 A patient with insulin-dependent diabetes mellitus 1 year after being diagnosed with membranous glomerulonephritis
A 9-year-old girl developed type 1 diabetes and alopecia after being treated for a rare kidney disease.
research Unusual Cause of Chronic Diarrhea: Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome causes chronic diarrhea and has a poor prognosis despite treatment.
research Trichothiodystrophy in a child with occult learning disorder
Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.