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.
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780-810 / 1000+ resultsresearch Patients with Compound Heterozygous Mutations in Forkhead Box N1 have a Severe Immunodeficiency while Maintaining Normal Skin and Hair Development
Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.
research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
Mutations in the DSG4 gene cause specific hair and scalp issues.
research Pathogenesis and clinical features of alopecia in epidermolysis bullosa: A systematic review
Alopecia in patients with epidermolysis bullosa varies in severity and is often caused by skin blistering or trauma.
research Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
research [Trichothiodystrophy: a morphological and biochemical study].
Trichothiodystrophy involves brittle hair due to low sulfur amino acids, not a transport defect.
research SAT-213 Late Diagnosis of Complete Androgen Insensitivity
A 31-year-old woman was diagnosed with Complete Androgen Insensitivity Syndrome much later than usual, leading to a call for earlier detection and treatment guidelines.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research [Changes in trace elements (zinc, copper and manganese) in the hair before and after severe fractures by proton-induced X-ray emission spectrometry (PIXE)].
research Rabson-Mendenhall syndrome: two case reports and a brief review of the literature
The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
research 684 TGF-β signaling during the early phase of regeneration is required for wound-induced hair follicle neogenesis
TGF-β signaling is essential for new hair growth after a wound.
research Epithelial–mesenchymal transition in keloid tissues and TGF‐β1 –induced hair follicle outer root sheath keratinocytes
Keloid scars may form due to changes in skin cell characteristics and specific protein signaling.
research Alopecia totalis in an infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
research Uncombable-hair Syndrome
Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
research Woodhouse-Sakati Syndrome with Unique Unreported Previous Findings
Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
research Inborn errors of biotin metabolism
Two genetic disorders affect biotin metabolism, causing severe skin, hair, and metabolic issues.
research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
research Halo Scalp Ring: An Annular Alopecia Associated with Birth Injury
research ALOPECIA TEMPORÁRIA APÓS TRATAMENTO ENDOVASCULAR RELACIONADA A UMA MALFORMAÇÃO ARTERIOVENOSA EM FACE: RELATO DE CASO
Onyx® embolization effectively treats facial arteriovenous malformations with minimal complications.
research Bone mineral density in patients with alopecia areata treated with long-term intralesional corticosteroids.
Patients treated with long-term intralesional corticosteroids for alopecia areata should be monitored for bone density changes and advised on osteoporosis prevention.
research A Window into Mammalian Basement Membrane Development: Insights from themTurq2-Col4a1Mouse Model
The mTurq2-Col4a1 mouse model shows that cells can divide while attached to stable basement membranes during development.
research Erythrocyte deformability and hereditary elliptocytosis
Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
research Distinct mutations in human basic hair keratins 1 and 6 cause monilethrix: Implications for protein structure and clinical phenotype
research Experimental Production of Cutaneous Calcinosis and Sclerosis with Dihydrotachysterol (AT-10) 1
Giving dihydrotachysterol to mother rats caused skin hardening and bone issues in their babies through milk.
research Strontium ranelate promotes chondrogenesis through inhibition of the Wnt/β-catenin pathway
Strontium ranelate helps cartilage growth by blocking a specific cell pathway.
research Alopecia in a 19-Month-Old Boy
A 19-month-old boy with a rare hair disorder showed mild improvement with treatment, but his family chose gentle hair care due to limited success.
research Clinical cases of Darier-White follicular dyskeratosis
Darier-White disease causes skin and nail issues, starts around age 20, worsens until 40-50, and has poor treatment options.
research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
research Ulerythema ophryogenes (keratosis pilaris atrophicans faciei).
Ulerythema ophryogenes causes hair thinning and inflammation, with limited treatment options.
research 1322 A non-cell autonomous dermal hedgehog signaling mechanism for follicular neoplasia and induction
Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.