research Evaluation of E- cadherin and Hydrogen Peroxide in Skin of Patients with Vitiligo
Vitiligo patients have higher hydrogen peroxide levels and lower E-cadherin, affecting skin cell adhesion and pigmentation.
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960-990 / 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 Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
New genetic variants linked to albinism were found in Pakistani families.
research KNUCKLE HYPERPIGMENTATION AS A PRELIMINARY MARKER OF VITAMIN B 12 DEFICIENCY: A CASE SERIES
Knuckle darkening can be an early sign of vitamin B12 deficiency.
research Trichothiodystrophy: Current Concepts
TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
research Late presentation of biotinidase deficiency with acute visual loss and gait disturbance
Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.
research Biotinidase Deficiency Accompanying Hair Changes and Periorificial Lesions: A Case Report
Biotin treatment improved hair and skin issues in a child with biotinidase deficiency.
research Oxidative DNA Damage Accelerates Skin Inflammation in Pristane-Induced Lupus Model
Loss of OGG1 increases skin inflammation and auto-antibodies in lupus.
research Spontaneous hair hyperpigmentation in response to vitamin intake in pregnancy—A clue for homocystinuria
Taking vitamin B6 corrected a pregnant woman's metabolic disorder, which changed her hair color.
research Zone 1 Hepatocellular Necrosis: A Manifestation of Selenium Toxicity?
Excessive selenium intake can cause liver damage.
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 Acrodermatitis enteropathica – a diagnostic challenge: case report of late-onset, genetically proven disease with normal zinc serum levels
Accurate diagnosis and zinc supplements can improve life quality in acrodermatitis enteropathica, even with normal zinc levels.
research Transglutaminase-mediated cross-linking in mammalian epidermis
research Case of thallium intoxication
Thallium poisoning can be treated successfully with the right antidote.
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 Dermoscopy of Graham–Little–Piccardi–Lassueur Syndrome
Dermoscopy helps diagnose rare GLPLS in males.
research Grahams Little Piccardi Lausseur Syndrome - A Rare Case Report with Review of Literature
Early diagnosis of GLPLS is crucial to prevent complications, but scarring alopecia is irreversible.
research Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency
The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
research Inborn errors of biotin metabolism
Two genetic disorders affect biotin metabolism, causing severe skin, hair, and metabolic issues.
research Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review
DPR can show different hair characteristics, as seen in two brothers with normal hair.
research Folliculocentric papules and alopecia
A 70-year-old woman with a rare skin condition improved after treatment with topical steroids and acitretin.
research Inborn Errors of Biotin Metabolism
Two enzyme defects in biotin metabolism cause severe skin, hair, and metabolic issues.
research Tyrosinase Depletion Prevents the Maturation of Melanosomes in the Mouse Hair Follicle
Reducing Tyrosinase prevents mature color pigment cells from forming in mouse hair.
research Dietary management reverses grooving and abnormal polarization of hair shafts in argininosuccinase deficiency
A special diet can fix hair problems in argininosuccinase deficiency.
research Partial biotinidase deficiency: Clinical and biochemical features
Children with partial biotinidase deficiency are healthy at birth but may develop symptoms that improve with biotin therapy.
research Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities
Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
research Biotinidase deficiency – clinching the diagnosis rapidly can make all the difference!
Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research Severe hypersensitivity reaction to gold. Positive lymphocyte transformation test.
The patient had a severe allergic reaction to gold treatment.
research Dermatopathia Pigmentosa Reticularis with Salzmann’s nodular degeneration of cornea: A rare association
An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.