research THE PATTERN OF SILVER-RUSSELL SYNDROME: OWN OBSERVATION
A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
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research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
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 Blue Light in Dermatology
Blue light can help treat skin conditions like eczema and acne without major side effects.
research Trichothiodystrophy
Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
research Generalized atrophic benign epidermolysis bullosa.
GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
research Supplementary Material for: A Silvery Hair Revolution: Case Report of Marie Antoinette syndrome in a child
Stress can cause sudden hair whitening in children, but it may reverse on its own.
research Supplementary Material for: A Silvery Hair Revolution: Case Report of Marie Antoinette syndrome in a child
Stress can cause sudden hair whitening in children, but it may reverse on its own.
research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
research ATP6AP1‐CDG: Follow‐up and female phenotype
ATP6AP1‐CDG can cause hearing loss, hair loss, and protein issues, even in female carriers.
research PLACK syndrome associated with alopecia areata and a novel homozygous base pair insertion in exon 18 of CAST gene
A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
research Epidermolysis Bullosa Acquisita Occuring In A Patient With Systemic Lupus Erythematosus
A woman with lupus also developed a severe skin condition linked to a genetic factor.
research Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research Escobar syndrome (multiple pterygium syndrome) associated with osteogenesis imperfecta: a case report
Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research A rare case of pigmented nodular alopecic lesion on the scalp
A man had a rare pigmented nodule on his scalp that developed from birthmarks.
research Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
Monilethrix severity varies and may be influenced by other genetic or environmental factors.
research S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
research Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research The long road traveled in hematopoietic stem cell gene therapy
The FDA approved the first gene therapy for a blood disorder after overcoming early challenges and demonstrating patient benefits.
research Adrenoleukodystrophy: A Rare Case Report
Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
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 Novel <b><i>ABCD1</i></b> Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
research Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research Bamboo Hair Syndrome or Netherton Syndrome - A Case Report
Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
research Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome
Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
research Erythrocyte deformability and hereditary elliptocytosis
Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.