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.
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research Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
research Reticulocyte hemoglobin content as a best indicator of iron deficiency in female patients with diffuse non-scarring hair loss
Reticulocyte hemoglobin content is the best indicator of iron deficiency causing hair loss in women.
research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
A specific mutation in PA-PLA1α causes abnormal hair growth.
research Vitamins and Alopecia
Vitamin deficiencies, especially biotin and vitamin D, can cause hair loss.
research Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics
Pegvaliase effectively reduces blood phenylalanine levels in most PKU patients, but requires personalized plans and good communication to manage side effects.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research Ritlecitinib (Litfulo)
Litfulo is recommended for treating severe alopecia areata in people 12 and older, as it helps hair regrowth.
research PSAT217 Estrogen Deficiency as a Cause of Decreased 1- alpha - hydroxylase Activity
Estrogen deficiency can reduce the enzyme activity needed to activate vitamin D.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Substrate specific sulfatase activity from hair follicles in recessive X-linked ichthyosis
Recessive X-linked ichthyosis involves a less efficient enzyme in hair follicles, suggesting two distinct enzymes.
research Hair shaft disorders in a child with loose anagen syndrome and uncombable hair: Clues to an underlying genetic disorder
research 1465 Optimization/characterization of a Focal Dermal Hypoplasia mouse model to test potential treatments
Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.
research Non-nutritional rickets: Approach, precision medicine, and outcomes
Early diagnosis and tailored treatment improve outcomes for non-nutritional rickets.
research [The Netherton syndrome with alopecia and prolinuria].
Netherton syndrome in a boy caused skin and hair issues, and treatment didn't work.
research Mutation in human hair keratin hHb6 in monilethrix: clinical variation is not due to genetic variation.
research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
Mutations in the DSG4 gene cause specific hair and scalp issues.
research Protein-losing Enteropathy Exacerbated with the Appearance of Symptoms of Systemic Lupus Erythematosus.
Protein-losing enteropathy worsened with lupus symptoms but improved with prednisolone.
research Evaluation of hair structural abnormalities in children with different neurological diseases
Hair examination helps diagnose rare neurological diseases in children.
research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research Clinical Quiz
The toddler's health issues were caused by too much vitamin A from supplements.
research Evaluation of Zinc, Vitamin B12, Folic Acid and Iron Levels and Thyroid Functions in Patients with Chronic Telogen Effluvium
People with Chronic Telogen Effluvium mainly have lower iron levels compared to healthy individuals.
research Telogen effluvium. New possibilities of correction
Combining iron supplements with Qilib lotion is more effective for treating hair loss from iron deficiency.
research [An infant with short stature and red cheeks (Rothmund-Thomson syndrome)].
The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
research Nonscarring scalp alopecia: Which laboratory analysis should we perform on whom?
Women with telogen effluvium should be tested first for vitamin and mineral deficiencies.
research Ocular involvement caused by the accumulation of porphyrins in a patient with congenital erythropoietic porphyria
A patient with congenital erythropoietic porphyria showed eye issues due to porphyrin buildup.
research Epstein-Barr virus associated with high-grade B-cell lymphoma in nude severe combined immunodeficiency
A boy with severe immune deficiency and Epstein-Barr virus died from high-grade B-cell lymphoma.
research Characterization of Bsk mice: I. The Bsk mutation does not involve a recombination of cornea-specific keratin 12 and skin-specific hair keratin genes.
The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
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 Editorial: Vitamin D 1α-Hydroxylase Knockout Mice as a Hereditary Rickets Animal Model
Vitamin D 1α-hydroxylase is crucial for bone health and vitamin D metabolism.