research An endocrinopathy characterized by dysfunction of the pituitary-adrenal axis and alopecia universalis: supporting the entity of a triple H syndrome
Triple H syndrome exists and can vary in symptoms.
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210-240 / 1000+ resultsresearch IMMUNOLOGICAL AND GENETIC ASPECTS OF HEREDITARY ANTIBODY DEFICIENCIES
Children with frequent severe infections and low antibodies should be checked for immune deficiencies.
research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.
research Symptomatic zinc deficiency in a full-term breast-fed infant
Zinc supplements and weaning cured a breast-fed baby's zinc deficiency caused by a gene mutation.
research Inborn errors of biotin metabolism
Two genetic disorders affect biotin metabolism, causing severe skin, hair, and metabolic issues.
research 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
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 Diagnosis of Trichothiodystrophy in 2 Siblings
Two siblings were diagnosed with Trichothiodystrophy, identified by brittle hair and low sulfur content.
research Rickets with alopecia-remission following a course of 1-?-hydroxy vitamin D3 therapy
Child with rickets improved with a specific vitamin D therapy, but alopecia did not change.
research Autosomal recessive hereditary hypotrichosis simplex: A case report
A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research An HIV-Infected Man with Odynophagia and Rash
The man's symptoms improved after treating his scurvy with high-dose vitamin C.
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 Macrocytosis and pseudoalbinism: Manifestations of selenium deficiency
Selenium deficiency can cause skin and hair color loss, muscle weakness, and blood cell changes, but these improve with selenium supplements.
research NEW YORK ACADEMY OF MEDICINE, SECTION ON DERMATOLOGY AND SYPHILIS
An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
research Zinc deficiency or genetic mutations?—A case report of hair heterochromia in the context of MC1R genetic mutations
A boy's hair turned red because of genetic mutations, not lack of zinc.
research Inherited Acrodermatitis Enteropathica
Zinc supplements improved the girl's skin and hair condition.
research [The effect of 1, 25-dihydroxyvitamin D3 on cultured human hair follicle cells from a patients with vitamin D-dependent rickets type II with alopecia].
DDR-II hair follicle cells don't respond to 1, 25-dihydroxyvitamin D3, aiding diagnosis.
research A sharply marginated erythematous dermatitis in a toddler
A toddler with a rash and developmental delays improved after treatment for severe malnutrition caused by a diet lacking in protein.
research T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research Netherton Syndrome Associated with Growth Hormone Deficiency
Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
research Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy
Cinacalcet may help treat hereditary vitamin D resistant rickets safely.
research Vitamin C Deficiency-Induced Pulmonary Arterial Hypertension
Vitamin C supplementation can resolve pulmonary arterial hypertension caused by vitamin C deficiency.
research Trichothiodystrophy in a child with occult learning disorder
Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
research Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
research Bleeding tendency with corkscrew hair
Low vitamin C caused bleeding and corkscrew hair, resolved with vitamin C treatment.
research Phenotypic variation in biotinidase deficiency
Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.