research A rare case of Vitamin D dependent rickets type II: a case report
A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.
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810-840 / 1000+ results research Down Syndrome and Autoimmune Disease
People with Down syndrome have a higher risk of autoimmune diseases, so early detection and care are important.
research Janus kinase inhibition in Down syndrome: 2 cases of therapeutic benefit for alopecia areata
JAK inhibitors helped treat hair loss in two people with Down syndrome.
research Trichodysplasia spinulosa: A benign adnexal proliferation with follicular differentiation associated with polyomavirus
Trichodysplasia spinulosa is a rare skin condition caused by a virus, treatable with antiviral medication.
research Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin
A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.
research Unilateral heterochromia of scalp hair with adjacent hypomelanotic skin lesions
The boy's hair and skin color differences are due to a pigmentation disorder.
research FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
research Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability within a Pakistani Family
A specific gene mutation causes varying hair loss severity in a Pakistani family.
research Clinical Case Notes. Retinoblastoma, microphthalmia and the chromosome 13q deletion syndrome
The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
research 481 Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic changes in specific proteins contribute to hair loss in some women of African descent.
research PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
research Association Between Androgenic Alopecia and Schizophrenia: A Bidirectional Mendelian Randomization Study
Androgenetic alopecia may cause schizophrenia, but schizophrenia does not cause androgenetic alopecia.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research Molecular basis of androgen insensitivity
Mutations in the androgen receptor gene cause androgen insensitivity, leading to female traits in genetically male individuals.
research Cronkhite-Canada syndrome: An elusive gastrointestinal disorder with multisystem involvement-pathogenesis, diagnosis, and therapeutic strategies
Cronkhite-Canada syndrome is a rare disorder needing early recognition and treatment with immunosuppressive therapies and nutritional support to manage symptoms and prevent complications.
research Mucocutaneous Findings and Endocrinopathies in Children with Turner Syndrome: A Cross-Sectional Study
Children with Turner Syndrome often have skin, hair, and nail issues linked to hormonal problems, so regular skin checks are recommended.
research A case report of Graham-Little–Piccardi–Lassueur syndrome
A 46-year-old man showed symptoms of a rare condition usually seen in postmenopausal women, highlighting the need for dentist-dermatologist collaboration.
research Epilepsy and Neurodegeneration: Clues in the Hair and Blood Vessels!
The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
research Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies
Topical minoxidil may help treat a rare genetic hair condition with no fully effective treatments yet.
research Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome
Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
research Satoyoshi Syndrome: Difficult to find or treat?
Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
research Pseudopili Annulati in a Dark‐Haired Individual: A Light and Electron Microscopic Study
A dark-haired Chinese girl had hair that looked banded under certain light but was normal under a microscope.
research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
research Mice Expressing a Mutant Krt75 (K6hf) Allele Develop Hair and Nail Defects Resembling Pachyonychia Congenita
research Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
research Ipsilateral post-cast hypertrichosis and dyshidrotic dermatitis
A patient developed excess hair and skin issues on the same side after wearing a cast.
research Eruptive syringomas in Down’s syndrome
People with Down's syndrome are more likely to have syringomas.
research Clinical and trichoscopic characteristics of temporal triangular alopecia: A multicenter study
Temporal triangular alopecia is a non-scarring hair loss in children, often linked to other health conditions.
research Short anagen syndrome: Case series and literature review
Children with short anagen syndrome usually see their hair condition improve as they get older.
research Alopecia Triangular Temporal. Revisión de las manifestaciones clínicas y Dermatoscópicas.
Alopecia triangular temporal is a rare condition with unclear causes and treatment, but trichoscopy helps in diagnosis.