research TRICHOSCOPY AS A NON-INVASIVE TOOL FOR THE DIAGNOSIS OF DEFICIENCIES OF VITAMIN B12, VITAMIN D3 AND SERUM FERRITIN
Trichoscopy can help diagnose Vitamin B12, Vitamin D3, and ferritin deficiencies without blood tests.
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research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research Cystathionine β‐synthase‐deficient mice thrive on a low‐methionine diet
Mice with CBS deficiency are healthier on a low-methionine diet.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
research Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report
Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
research Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review
TTD symptoms vary widely, requiring thorough evaluations.
research Abnormalities in the hair morphology of patients with some but not all types of mucopolysaccharidoses
Certain types of mucopolysaccharidoses cause significant hair abnormalities.
research CENTRAL STATES DERMATOLOGICAL SOCIETY
A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
research DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA
Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.
research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
research Dyschromatosis Universalis Hereditaria: Report of a case and Review of the Literature
A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
research Gomez?Lopez?Hernandez syndrome: another consideration in focal congenital alopecia
Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
research High-sulfur protein deficient human hair: clinical aspects and biochemical study of two unreported cases of a variant type of trichothiodystrophy
Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
research Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
research The effect of dietary modulation of sulfur amino acids on cystathionine β synthase–deficient mice
Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.
research Dermatological aspects of the S2k guidelines on Down syndrome in childhood and adolescence
Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
research New Insights into Testosterone Biosynthesis: Novel Observations from HSD17B3 Deficient Mice
Mice without the enzyme HSD17B3 still produce normal testosterone, suggesting they have different ways to make it compared to humans.
research Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
research Biotinidase deficiency characterized by skin and hair findings
Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
research Structural and Molecular Hair Abnormalities in Trichothiodystrophy
TTD hair brittleness is caused by multiple structural abnormalities.
research Woodhouse-Sakati Syndrome with Unique Unreported Previous Findings
Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
research Nutritional Dermatoses in Rats
Nutritional deficiencies in rats cause skin problems that can be treated with the right vitamins.
research Multiple and Recurrent Ocular Manifestations in a Patient of Vogt-Koyanagi-Harada Syndrome
Young patients with Vogt-Koyanagi-Harada syndrome may have poor vision outcomes despite treatment due to frequent recurrences.
research A clinical case of CNOT3 syndrome in a 10-year-old girl
Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
research Cyclic Alopecia and Abnormal Epidermal Cornification in Zdhhc13 -Deficient Mice Reveal the Importance of Palmitoylation in Hair and Skin Differentiation
The enzyme DHHC13 is essential for healthy hair and skin, and its deficiency leads to hair loss and skin problems.