research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
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research Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research Color-transition sign: A useful trichoscopic finding for differentiating alopecia areata incognita from telogen effluvium
The "color-transition sign" helps tell apart alopecia areata incognita from telogen effluvium by looking at hair color changes.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case
The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix
A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
research GLOMERULAR MEMBRANOUS NEPHROPATHY AND WERNER SYNDROME: A CASE REPORT
A potential genetic link between Werner syndrome and kidney disease was suggested.
research Progeroide Syndrome
Genetic mutations affecting DNA repair cause early aging symptoms in progeroid syndromes.
research Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities
Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
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 Monilethrix – Case report of a rare disease
Monilethrix causes fragile, patchy hair loss.
research Congenital atrichia associated with nevus flammeus: A rare association
A person was born with both a rare hairless condition and a type of birthmark, which is an uncommon combination.
research Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood
A specific gene mutation in Japanese people can cause varying degrees of hair thinning in adulthood.
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.
research Diagnostic challenge: Loose anagen hair syndrome
The study concludes that Loose Anagen Hair Syndrome is a benign condition that usually improves with age but can be hard to diagnose and stressful for the family.
research Transient bullous dermolysis of the newborn
The newborn's skin blisters healed without scarring, leaving some light spots, and stopped forming after four months.
research Muir-torre syndrome in two families in Leicestershire, United Kingdom
Recognizing minor skin lesions can help identify serious cancer syndromes.
research Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research A New Clinical Variant of Hereditary Localized Alopecia: Report of a Chinese Family Mapped to Chromosome 2p25.1–2p23.2
A new type of hereditary hair loss in a Chinese family is linked to chromosome 2p25.1–2p23.2.
research Woodhouse-Sakati Syndrome with Unique Unreported Previous Findings
Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
research Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide
research Hair: more than just an appendage
A boy and his father with hereditary hypotrichosis simplex were treated for hair loss, but the treatment result is unknown.
research Cutaneous extramedullary haematopoiesis: Implications in human disease and treatment
Skin can produce blood cells, often due to disease, which might lead to new treatments for skin and blood conditions.
research Clinical Case Notes. Castleman's disease of the lacrimal gland
The document discusses various eye conditions and their treatments, including a rare eye cancer in a baby, vision loss from a cancer drug, cataracts from a baldness treatment, a rare skin disorder, and a specific type of eye disease diagnosed with a special imaging technique.
research NIPAL4 deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy
An American Bully with a genetic skin condition improved significantly with specific topical treatments.
research Value of dermoscopy for the diagnosis of monilethrix
Dermoscopy helped diagnose a rare hair disorder in a 2-year-old boy.
research KID Syndrome: Report of a Case and Support for Its Reclassification as an Ectodermal Dysplasia
KID syndrome should be reclassified as an ectodermal dysplasia.
research A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12∼12.3 in a Chinese family
A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
research Novel insights into cardiocutaneous syndromes
Understanding genetics is crucial for treating heart and skin diseases.