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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research Androgen receptor (AR) gene (CAG)n and (GGN)n length polymorphisms and symptoms in young males with long-lasting adverse effects after finasteride use against androgenic alopecia
Gene differences affect finasteride side effects in men with hair loss.
research Quality of Life in Patients with Diffuse Lichen Planopilaris: A Cross-Sectional Study of 87 Moroccan Cases
Diffuse lichen planopilaris greatly reduces quality of life.
research SnapshotDx Quiz: December 2018
Lichen Planopilaris causes irreversible hair loss due to immune attacks on hair stem cells, but modulating PPAR-γ might help treat it.
research Primary vitreoretinal lymphoma masquerading as refractory uveitis—just go with the flow
Early and accurate diagnosis of primary vitreoretinal lymphoma is crucial to prevent serious complications.
research An Unusual Case of Diarrhea, Dysgeusia, and Grainy and Nodular Mucosa
A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.
research Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2
Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
research Mutation of a type II keratin gene (K6a) in pachyonychia congenita
research Vogt-Koyanagi-Harada Disease: A Narrative Review
Vogt-Koyanagi-Harada disease affects vision and skin, mainly in people with darker skin, and is treated with steroids and immunosuppressants.
research Pearly Pinna Papules in a Young Female
The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
research Polycystic ovary syndrome in patients with hair thinning
Women with hair loss should be checked for PCOS, as it's often related and early diagnosis can help with treatment.
research A case of simultaneous onset of highly active systemic lupus erythematosus and IgG4-related renal disease
Renal histology is crucial for diagnosing simultaneous SLE and IgG4RD.
research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research SUN-287 A Case of Ectopic Neurohypophysis
The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
research Two Cases of Linear Alopecia on the Occipital Scalp
Two rare bald spots on the back of the scalp were found to be lupus, not alopecia areata.
research 1368 Does mitochondrial dysfunction drive immune privilege collapse in lichen planopilaris pathogenesis?
Mitochondrial dysfunction may contribute to chronic inflammation and immune system issues in Lichen planopilaris.
research For early diagnosis of young patients with Werner syndrome: Indication for genetic testing
Genetic testing is recommended for young patients showing signs like cataracts and hair changes to diagnose Werner syndrome early.
research Comprehensive transcriptome profiling between balding and non-balding scalp of Female pattern hair loss in Asian
The research suggests that SFRP2 and PTGDS proteins might be indicators of female pattern hair loss and could contribute to hair loss.
research 1329 Transglutaminase 2 deficiency leads to lipid accumulation and reduced autophagy in SZ95 sebocytes
Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.
research No mucosal involvement in a patient with paraneoplastic pemphigus associated with thymoma and myasthenia gravis
The patient had paraneoplastic pemphigus without mucosal involvement.
research Induction of basal cell carcinomas and trichoepitheliomas in mice overexpressing GLI-1
Overexpressing GLI-1 in mice skin can cause tumors like human basal cell carcinomas.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research Cases Report the Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
research A Case Report of Werner’s Syndrome With a Novel Mutation From India
A new genetic mutation causing Werner's syndrome was found in an Indian man.
research Clinical case of a patient with progressive supranuclear palsy – from symptom to diagnosis
Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.
research Fibrosing alopecia in a pattern distribution
Fibrosing alopecia in a pattern distribution is a unique hair loss condition that may respond to antiandrogen therapy.
research A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions
A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
research Female pattern hair loss with acromegaly
Hair loss improved after removing pituitary tumor.
research Multiple, hereditary dome-shaped papules and acrochordons. Birt-Hogg-Dube syndrome
The boy likely has a fungal infection causing hair loss.