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.
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420-450 / 1000+ resultsresearch Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
Different gene mutations cause different types of ichthyosis, with some new mutations found.
research No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia
THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
research Low Free Thyroxine (FT4) in critically ill juvenile systemic lupus erythematosus: a diagnostic approach
Low free thyroxine (FT4) is common in young lupus patients and needs quick diagnosis and treatment.
research Hutchinson-Gilford progeria syndrome - A brief introduction
Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
research Polyglandular Syndrome Type 1 Complicated with Dilated Cardiomyopathy: A Case Report
A 27-year-old with APS-1 showed improvement in symptoms after treatment.
research Le point de vue du pathologiste concernant l’étude PCPT
research Diagnostic dilemma: Multiple Autoimmune Syndrome versus incomplete Graham-Little-Piccardi-Lassueur Syndrome overlap mixed connective tissue disease
The case shows how hard it is to tell apart Multiple Autoimmune Syndrome from other similar autoimmune conditions, but correct diagnosis is key for treatment to work.
research Combination of Netherton Syndrome and Hypopituitarism with Isolated Somatotropin Deficiency: Case Study
Treating Netherton syndrome with growth hormone and dupilumab improves growth safely.
research [Methotrexate to treat SAPHO syndrome with keloidal scars].
Methotrexate effectively managed SAPHO syndrome symptoms when other treatments failed.
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 Gloriosa superba poisoning mimicking an acute infection- a case report
Gloriosa superba poisoning can mimic severe tropical infections and cause rapid hair loss.
research 8800 A Case of Hypopituitarism Due to Sheehan Syndrome
Sheehan syndrome can cause hormone deficiencies after childbirth, but treatment can improve symptoms.
research Bilateral ovarian steroid cell tumor in a postmenopausal woman with progressive hyperandrogenism
Surgery removed ovarian tumors, normalizing testosterone and improving symptoms.
research The Use of Ovarian Vein Sampling to Lateralize a Virilizing Leydig Cell Ovarian Tumor
Ovarian vein sampling can effectively locate ovarian tumors when imaging is unclear.
research Timed exposure 10,600 nm CO2 laser drilling in various benign dermal tumours
CO₂ laser treatment is fast and effective for some benign skin tumors with minimal side effects.
research Symposium Proceedings of the 4th Intercontinental Meeting of Hair Research Societies: “The World of Hair 2004”
The 2004 hair research meeting presented new findings on hair cell differentiation, genetic factors in hair loss, hair pigmentation, and potential targeted therapies.
research Unraveling a Rare Case: Diarrhea, Alopecia, and Polyposis
Corticosteroids improved symptoms in a man with Cronkhite-Canada Syndrome.
research Granulocyte Colony-Stimulating Factor Treatment of Cyclic Neutropenia With Recurrent Oral Aphthae
G-CSF effectively treated a teenager's cyclic neutropenia and reduced her symptoms without adverse effects.
research 20th Annual Symposium of the British Society of Paediatric Dermatology, 11-12 November 2005, Newcastle upon Tyne, U.K.
The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
research Hair tourniquet syndrome: revisited
Hair tourniquet syndrome can cause serious harm if not treated quickly, especially in infants.
research Sertoliform endometrioid carcinoma of the right ovary
Sertoliform endometrioid carcinoma of the ovary, though rare, has a good prognosis when treated early.
research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
research Clinical and Trichoscopy Features in Trichorhinophalangeal Syndrome: A Multicenter Retrospective Study
Hair changes and a high occipital hairline may help diagnose Trichorhinophalangeal Syndrome.
research Ovarian vein sampling, and serum and urine testosterone monitoring in ovarian Leydig cell tumors: A report of two cases
Ovarian vein sampling helped diagnose rare ovarian tumors causing high testosterone, and surgery to remove the tumors lowered the testosterone levels.
research Solitary fibrofolliculoma: a retrospective case series review over 18 years
The conclusion is that surgical removal of solitary fibrofolliculoma is effective with no relapses, and diagnosis requires a biopsy due to varied symptoms.
research Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1
The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
research Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism
PAON shows skin patterns due to genetic mosaicism.
research LBMON231 Virilization Secondary To Androgen Producing Ovarian Serous Cystadenoma
A woman's masculine features were caused by a rare ovarian tumor that produced male hormones.
research FRI334 A Case Of Delayed Onset Sheehan's Syndrome With Diabetes Insipidus
A woman was diagnosed with Sheehan's syndrome and a rare complication of diabetes insipidus 33 years after symptoms began, improving with hormone therapy.