research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
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510-540 / 1000+ results research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
research Preparation and Characterization of Soluble Wool Keratin for Human Hair Care
CMADK reduces hair damage from bleaching and permanent waving.
research A Decade With Sheehan's Syndrome: A Case Report and Personal Experience.
Early diagnosis and management of Sheehan's syndrome are crucial for improving quality of life and fertility.
research Keratosis Follicularis Spinulosa Decalvans
KFSD is a rare condition causing scarring hair loss, with no effective treatment known at the time of the report.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research Ehlers-Danlos syndrome: From bedside to bench
Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
research Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research Chondrogenic differentiation of human scalp adipose‐derived stem cells in Polycaprolactone scaffold and using Freeze Thaw Freeze method
Human scalp fat stem cells showed improved cartilage-like development on a special scaffold with freeze-thaw treatment.
research A polygenic mouse model of psoriasiform skin disease in CD18-deficient mice.
CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
research Case Report: Disorder of Sexual Development in a Chinese Crested Dog With XX/XY Leukocyte Chimerism and Mixed Cell Testicular Tumors
A female dog with mixed male and female traits was treated successfully with surgery.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research Gsdma3 Mutation Causes Bulge Stem Cell Depletion and Alopecia Mediated by Skin Inflammation
A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.
research A Case Report of a Rare Subacute Cutaneous Lupus Erythematosus with Chin Prostration
A rare lupus case on the chin was successfully treated with steroids and immunomodulators after accurate diagnosis using advanced imaging techniques.
research Scarring Folliculitis in the Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
The patient with EEC syndrome had scarring alopecia due to deep folliculitis, possibly linked to abnormal hair structure.
research Comedonic discoid lupus erythematous
Doctors should consider comedonic discoid lupus erythematosus to avoid misdiagnosis.
research Cutaneous and Oral Mucosal Lesions in Cri-du-chat Syndrome
Cri-du-chat syndrome can cause skin and oral lesions affecting nutrition and quality of life.
research Using disease symptomatology to guide treatment in patients with central centrifugal cicatricial alopecia: introduction of C-CAT scoring tool
The C-CAT tool helps assess and improve treatment for central centrifugal cicatricial alopecia.
research Improvement of Recalcitrant Dissecting Cellulitis of the Scalp After a Trial of Upadacitinib
Upadacitinib significantly improved a man's severe scalp condition when other treatments failed.
research Lupus erythematosus-like lesions in a carrier of X-linked chronic granulomatous disease: A case report and personal considerations
A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
research Male androgenetic alopecia treated with microneedling alone or associated with injectable minoxidil by microinfusion of drugs into the skin
research Composto nutracêutico no tratamento do eflúvio telógeno associado à síndrome das unhas fracas
The document's conclusion cannot be provided because the text is not in a processable format.
research Androgenetic alopecia treatment: associating 1550nm erbium-glass laser with drug injections of active principles
Combining laser therapy with drug injections effectively treats androgenetic alopecia.
research The application of platelet-rich plasma in the treatment of androgenic alopecia
PRP injections effectively improve hair growth in androgenic alopecia.
research Congenital Zinc Deficiency from Mutations of theSLC39A4Gene as the Genetic Background of Acrodermatitis Enteropathica
A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
research Message from the 2017 Surgical Assistants Chair
The document's content couldn't be read or understood.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research Dominant dystrophic epidermolysis bullosa: Seven familial cases
The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.