research Novel association of trichothiodystrophy with autoimmune thyroiditis and autoimmune hemolytic anemia: A case report
A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
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510-540 / 1000+ results research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Trichofolliculoma With Mucinosis
A rare hair follicle tumor showed unusual high levels of mucin.
research Gilles de la Tourette syndrome – A treatable condition?
Gilles de la Tourette syndrome is treatable, with behavioral therapy as a recommended first option and other treatments available for more severe cases.
research Nevus lipomatosus cutaneous superficialis with folliculosebaceous cystic hamartoma
A rare skin growth was successfully removed without recurrence after one year.
research Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: A cross-sectional study
People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.
research Cutaneous Adverse Events of Tyrosine Kinase Inhibitors in Endocrine Tumors: Clinical Features, Mechanisms, and Management Strategies
Tyrosine kinase inhibitors for endocrine tumors often cause skin issues, requiring early management and treatment adjustments.
research Skin barrier, phenotypic and genotypic characterisation of autosomal recessive ichthyosis in TGM1 ‐deficient Jack Russell Terriers and response to topical ceramide
Topical ceramide treatment partially improves the skin condition in Jack Russell Terriers with a genetic skin disorder.
research Tinea Faciale and Lupus Erythematosus
Tinea faciale can be mistaken for lupus due to similar symptoms.
research Motoneuron-Specific PTEN Deletion in Mice Induces Neuronal Hypertrophy and Also Regeneration after Facial Nerve Injury
Deleting the PTEN gene in mice causes nerve cells to grow larger and heal better after injury, but may cause overgrowth and hair loss in older mice.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Hypertrichosis Cubiti Presenting in a Female Child: A Case Report
A six-year-old girl with extra hair on her elbows was treated with hair removal methods.
research Keratosis follicularis spinulosa decalvans in a family
KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
research A case of eruptive lichen spinulosus after toxic epidermal necrolysis
A boy developed a rare skin condition after recovering from a severe skin reaction, and it improved with lotion treatment.
research Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome
A KRT32 gene variant causes loose anagen hair syndrome.
research Two Clinically Unusual Cases of Folliculotropic Mycosis Fungoides: One with and the Other without Syringotropism
Some cases of folliculotropic mycosis fungoides may progress slowly and not need aggressive treatment.
research Mutation of a type II keratin gene (K6a) in pachyonychia congenita
research Trichotillomania treated with n-acetylcysteine
N-acetylcysteine may help treat trichotillomania.
research Eruptive syringomas in Down’s syndrome
People with Down's syndrome are more likely to have syringomas.
research Deficiency of kinase suppressor of Ras1 prevents oncogenic ras signaling in mice.
Lack of KSR1 stops certain skin tumors in mice.
research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research Juvenile systemic lupus erythematosus presenting only as nonscarring alopecia
A 13-year-old girl was diagnosed with juvenile lupus, showing only hair loss as a symptom.
research Clinical and Histologic Features of 64 Cases of Steatocystoma Multiplex
Steatocystoma multiplex is a skin condition starting around age 26, linked to hair follicles, and related to eruptive vellus hair cysts.
research Junctional Epidermolysis Bullosa, Generalized Intermediate Type
research New clinico‐genetic classification of trichothiodystrophy
A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
research Isolated eyebrow and eyelash trichotillomania mimicking alopecia areata
Some children and young adults with eyebrow and eyelash hair loss actually have a hair-pulling disorder, often with related psychological issues.
research Hair tourniquet syndrome of penis: A rare situation in boys with serious complications if not recognized
Hair wrapped tightly around a boy's penis can cause serious damage if not treated quickly.
research A Case of Trichoblastoma
A benign skin tumor was removed from a man's leg, and it didn't come back after 9 months.
research Case 5: A Very Tall 7-year-old Boy with Medulloblastoma
A 7-year-old boy with a brain tumor developed early puberty, which was successfully treated with medication.
research 880 Triptolide (TRP), a diterpenoid, shows a strong efficacy and a safe profile in the topical treatment of actinic keratosis lesions in a UV-B-induced mouse model
Triptolide effectively and safely reduces actinic keratosis lesions in mice.