research Focal Scalp Hair Heterochromia in an Infant
An infant had two different natural hair colors on the scalp with no health issues.
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30-60 / 1000+ resultsresearch A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
research Co-occurrence of Progressive Hemifacial atrophy due to Morphea with homolateral segmental Vitiligo: a case report
A 20-year-old woman had stable Progressive Hemifacial Atrophy and Vitiligo after treatment, suggesting a possible link between the conditions.
research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
research Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
research DP18 A mimicker of melanoma on sun-exposed sites
Melanocytic matricoma can look like skin cancer but is usually harmless; surgery and follow-up are advised.
research BIPHENOTYPIC LEUKAEMIA
Acute leukemias with the Philadelphia chromosome may be biphenotypic, and identifying this is important for proper treatment.
research Multiple pigmentierte Basaliome im Capillitium bei Myotonia dystrophia Curschmann-Steinert
A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
research ERYTHROMELANOSIS FOLLICULARIS FACIEI ET COLLI
Three Iranian men had reddish-brown facial pigmentation with no effective treatment.
research An in vivo method for the detection of somatic mutations at the cellular level in mice
A new method can detect mutations in mice by observing changes in hair follicle cells.
research The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
research Repigmentation of leukoderma in a piebald patient associated with a novel c-KIT gene mutation, G592E, of the tyrosine kinase domain
A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
research Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome
A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
research Genomewide analysis of copy number variants in alopecia areata in a C entral E uropean cohort reveals association with MCHR 2
MCHR2 gene duplications may be linked to alopecia areata.
research Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene
Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
research Functionally distinct melanocyte populations revealed by reconstitution of hair follicles in mice
Only skin melanocytes, not other types, can color hair in mice.
research Pigmentary Puzzle: A Rare Case of Hyperpigmented Cutaneous Sarcoidosis
Early biopsy is crucial for diagnosing rare skin sarcoidosis, improving treatment.
research Atypical bilateral hyperpigmented macules on the lower legs possibly due to cyclophosphamide.
Cyclophosphamide likely causes skin darkening by affecting hair follicles.
research Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity
A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
A new gene mutation is linked to monilethrix in the studied family.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
research Ichthyosis Follicularis With Alopecia and Photophobia
Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research Follicular vitiligo: A rare clinical variant of a common entity
Follicular vitiligo causes hair to gray without skin color loss.