research Becker's Nevus Syndrome
Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
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480-510 / 1000+ resultsresearch A polarizing light microscopy can be an easy and reliable diagnostic tool of congenital keratinizing disorders including Netherton syndrome
Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
research PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
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 Congenital milia En plaque on scalp
A rare skin condition with cysts was found on a 5-year-old boy's scalp.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research Hair in the Wrong Place
A rare ear-area hair cyst was successfully removed from a 10-year-old boy.
research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research Genetically null mice reveal a central role for epidermal growth factor receptor in the differentiation of the hair follicle and normal hair development.
EGFR is essential for normal hair development and follicle differentiation.
research Neural crest cells and their potential therapeutic applications
Neural crest cells could be used in regenerative medicine due to their ability to become different cell types.
research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
Specific mutations in a receptor cause facial abnormalities and hair loss.
research A new type of pachyonychia congenita.
A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
research Effect of site of defect on completeness of regeneration of the rat's skin
The location of a skin injury affects how well a rat's skin can heal.
research Dermoscopy of an osteonevus of N anta
Dermoscopy helps diagnose unusual skin lesions like osteonevus of Nanta and can prevent misdiagnosis of serious conditions.
research FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments.
Early genetic testing and new therapies like secukinumab are crucial for managing Netherton syndrome effectively.
research 127 NDRG1 regulates proliferation of endothelial cells of infantile hemangioma
NDRG1 protein helps infantile hemangioma, a common infant tumor, to grow, and its mismanagement by FOXO1 protein plays a big role in causing the tumor.
research Necl2 regulates epidermal adhesion and wound repair
Necl2 affects skin cell behavior and slows wound healing.
research Edar Signaling in the Control of Hair Follicle Development
Edar signaling is crucial for proper hair follicle development and function.
research Identificación de la variación molecular y genética subyacente a las enfermedades de la piel
Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
research Netherton Syndrome With Trichorrhexis Invaginata “Bamboo Hair” Under Dermoscopy: Case Images
Netherton syndrome causes skin and hair issues, confirmed by "bamboo hair" under dermoscopy, with no cure but managed with topical treatments.
research Salivary gland function in persons with ectodermal dysplasias
People with ectodermal dysplasias often have reduced saliva production and should get saliva tests.
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 Epithelial loss of mitochondrial oxidative phosphorylation leads to disturbed enamel and impaired dentin matrix formation in postnatal developed mouse incisor
Mitochondrial problems in tooth cells lead to bad enamel and dentin development in mice.
research Aplasia cutis congenita on lumbosacral area
A newborn girl has a rare skin condition with two ulcers on her buttock that are healing on their own.
research Secondary Neoplasm Arising in Nevus Sebaceus of Jadassohn: A Case Report Emphasizing Early Recognition and Evaluation
Early recognition and evaluation of nevus sebaceus are crucial to detect and manage potential cancerous changes.
research Ankyloblepharon-ectodermal dysplasia-clefting syndrome: Surgical and medical management in an infant with bilateral corneal perforations
Early and aggressive treatment is crucial for preserving vision in infants with AEC syndrome.