research A case of trichogerminoma: a rare cutaneous follicular neoplasm
Trichogerminoma is a rare, benign skin tumor from hair cells, with a small risk of becoming cancerous.
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120-150 / 1000+ resultsresearch Genetics of Inherited Ichthyoses and Related Diseases
New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
research Monilethrix in three generations
Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research Trichostasis Spinulosa of the Heel: Unique Presentation with Characteristic Morphology
A rare skin condition usually on the face was found on a man's heel.
research [Genetic counseling in a case of neuro-ectodermosis: Vera Price trichothiodystrophy. Brittle hair with reduced sulfur content].
research Puberty induction with recombinant gonadotropin: What impact on future fertility?
Recombinant gonadotropins improve future fertility in CHH patients.
research Gene and tonic: Sonic hedgehog disruption and fetal alcohol syndrome
research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyria.
A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.
research Discreet monilethrix: De novo mutation on the example of polish families
A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
research 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
research Dermatophytosis caused by Trichophyton mentagrophytes in the Southern Chamois (Rupicapra pyrenaica) in the Eastern Pyrenees
Two southern chamois in the Eastern Pyrenees had skin infections caused by a fungus.
research A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research “Anisotrichosis”: A novel term to describe pattern alopecia
The document suggests "anisotrichosis" as a new term for hair thickness variation in common baldness.
research Electron microscopic observation of skin and hair on a case of Netherton syndrome
Netherton syndrome causes specific skin and hair changes that help in early diagnosis.
research Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
research Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report
A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
research Successful management of Netherton syndrome using IVIG and dupilumab: A case report
A young boy with Netherton syndrome improved significantly using IVIG, dupilumab, and dietary changes.
research Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
research Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
research A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
research BG01 Confirming small nuclear ribonucleoprotein polypeptide E as a cause of nonsyndromic hypotrichosis
The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.
research Trichoscopy in genetic hair shaft abnormalities
Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.
research Netherton Syndrome Associated with Growth Hormone Deficiency
Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
research 267 Deep phenotyping of patients with xeroderma pigmentosum and trichothiodystrophy
Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.