research ALX4-related frontonasal dysplasia sequence presenting with alopecia in a 12 year old girl
A 12-year-old girl's hair loss was linked to a rare genetic condition called ALX4-related frontonasal dysplasia.
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research A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler
Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.
research Spatial transcriptomics reveals asymmetric cellular responses to injury in the regenerating spiny mouse (Acomys) ear
The spiny mouse regenerates ear tissue asymmetrically, with gene expression differences possibly explaining its unique healing abilities.
research Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
research Delayed Diagnosis of Congenital Imperforate Hymen Resulting in Obstructing Hematometrocolpos
Early diagnosis of imperforate hymen is crucial to prevent complications.
research Orai1 expression pattern in tooth and craniofacial ectodermal tissues and potential functions during ameloblast differentiation
Orai1 protein is crucial for tooth development and affects enamel thickness and mineralization.
research Ocular aspects in biotinidase deficiency Clinical and genetic original studies
Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.
research KASUS RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA-MITIS YANG TERDIAGNOSIS PADA SAAT LANJUT USIA
Accurate diagnosis of RDEB-mitis in older adults is crucial for proper management without immunosuppressants.
research Neural Wiskott-Aldrich syndrome protein modulates Wnt signaling and is required for hair follicle cycling in mice
N-WASP is essential for normal hair growth in mice.
research ISIDLB1777 - A novel ex vivo model of human hair follicle immune privilege collapse reveals the potential of farudodstat, a DHODH inhibitor, as a therapeutic for alopecia areata treatment
Farudodstat may effectively treat alopecia areata by protecting hair follicles without harmful effects.
research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
research FDA approval of Deuruxolitinib: A New Treatment Option for Severe Alopecia Areata
Deuruxolitinib is FDA-approved for treating severe alopecia areata.
research 저출력 레이저 요법 및 침 치료를 이용한 반흔성 탈모 및 원형탈모증에 대한 치험 1례
Laser therapy and acupuncture helped regrow hair in a patient.
research MCAS, POTS, Dysautonomia, and “Genetic Disorders” — Long COVID Observations
Long COVID and vaccines have led to more chronic health issues.
research Vibration assisted analgesia during intralesional corticosteroid therapy for alopecia
Vibration assisted analgesia reduces pain during corticosteroid therapy for alopecia.
research Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
research PIEZO1-mediated calcium signaling reinforces mechanical properties of hair follicle stem cells to promote quiescence
PIEZO1 helps keep hair follicle stem cells inactive, affecting hair growth.
research Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report
A child with a rare vitamin D-resistant condition improved with treatment.
research Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research A case of twenty nail dystrophy affecting a 12 year old boy
A 12-year-old boy with twenty nail dystrophy, a condition affecting all nails, was treated conservatively due to its self-limiting nature and good prognosis.
research Surgical Pearl: Mechanoanesthesia to reduce the pain of local injections
Using a vibrating device during injections can help reduce pain.
research Selective Elimination of NG2-Expressing Hair Follicle Stem Cells Exacerbates the Sensitization Phase of Contact Dermatitis in a Transgenic Rat Model
Removing certain hair follicle stem cells worsens skin reactions to allergens.
research Dermatopathy in juvenile Angus cattle due to vitamin A deficiency
Some young Angus cattle had skin problems due to not enough vitamin A, which got better after they were given more vitamin A.
research CD8 T cells require IFNg to induce disease in a murine model of Alopecia Areata 2310132
CD8 T cells need interferon gamma to cause Alopecia Areata.
research Treatment of Canine Otitis Externa Using Video Otoscopy
Using a video otoscope effectively treated ear infections in dogs.
research Novel insights into cardiocutaneous syndromes
Understanding genetics is crucial for treating heart and skin diseases.
research Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
New mutations in the hairless gene may cause hair loss and affect bone development.
research Lack of the Vitamin D Receptor is Associated with Reduced Epidermal Differentiation and Hair Follicle Growth
Vitamin D Receptor is crucial for normal skin and hair growth.
research The fretful child with swollen appendage: Mitten the Insidious
A child's toe was saved from a rare condition where hair tightly wrapped around it by performing surgery.