research Hereditary Mucoepithelial Dysplasia: Unique Histopathological Findings in Skin Lesions
The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
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30 / 1000+ resultsresearch Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome: A Clinical Spectrum Due to SREBF1 Variants
A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Ichthyosis Follicularis Alopecia and Photophobia Syndrome: Transient Improvement with Oral Isotretinoin
Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
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 Involvement of Wnt, Eda, and Shh at Defined Stages of Sweat Gland Development
Wnt, Eda, and Shh pathways are crucial for different stages of sweat gland development in mice.
research Benign Skin Tumors: Overview, Clinical Features, Histopathology, and Treatment Options
Benign skin tumors need accurate diagnosis to ensure proper treatment.
research Keratins in Health and Cancer: More Than Mere Epithelial Cell Markers
Keratins help protect cells, aid in cancer diagnosis, and influence cancer behavior and treatment.
research Anatomy and Function of the Skin
The skin is the largest organ, protecting the body, regulating temperature, and producing hormones.
research The Epithelial Stem Cell Niche in Skin
Skin's epithelial stem cells are crucial for repair and maintenance, and understanding them could improve treatments for skin problems.
research Structure and Development of the Skin and Cutaneous Appendages
Understanding skin structure and development helps diagnose and treat skin disorders.
research Tracing the Cellular Origin of Cancer
Understanding where cancer cells come from helps create better prevention and treatment methods.
research Cannabinoid Compounds as a Pharmacotherapeutic Option for the Treatment of Non-Cancer Skin Diseases
Cannabinoids like CBD and THC may help treat non-cancer skin diseases, but more research is needed.
research The Role of Nuclear Hormone Receptors in Cutaneous Wound Repair
Nuclear hormone receptors play a significant role in skin wound healing and could lead to better treatment methods.
research Phenotypic Plasticity: Driver of Cancer Initiation, Progression, and Therapy Resistance
Understanding phenotypic plasticity is crucial for developing effective cancer therapies.
research Harnessing Neuroendocrine Controls of Keratin Expression: A New Therapeutic Strategy for Skin Diseases?
Using neurohormones to control keratin can lead to new skin disease treatments.
research Molecular Pathology of Skin Adnexal Tumors
New markers and pathways have been found in skin tumors, helping better understand and diagnose them.
research Keratosis Follicularis Spinulosa Decalvans: Case Report
A rare genetic disease caused severe, worsening hair loss from early childhood with poor treatment results.
research APCDD1 Is a Novel Wnt Inhibitor Mutated in Hereditary Hypotrichosis Simplex
A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
research Mutations in the Vitamin D Receptor and Hereditary Vitamin D-Resistant Rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
research Loose Anagen Hair as a Cause of Hereditary Hair Loss in Children
Loose Anagen Hair Syndrome is a hereditary condition causing hair loss in children due to abnormal hair follicles.
research Topical Minoxidil Therapy in Hereditary Androgenetic Alopecia
Minoxidil applied twice daily can help regrow hair in some people with hereditary baldness, with no serious side effects.
research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor
A specific gene mutation causes vitamin D-resistant rickets and hair loss.
research Hereditary Vitamin D-Resistant Rickets (HVDRR) Owing to a Heterozygous Mutation in the Vitamin D Receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
research A Distinct Gene Close to the Hairless Locus on Chromosome 8p Underlies Hereditary Marie Unna Type Hypotrichosis in a German Family
A different gene near the hairless gene on chromosome 8p21 causes a rare hair loss condition in a German family.
research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
HVDRR is caused by VDR gene mutations, leading to vitamin D resistance, treatable with high calcium doses, but alopecia remains permanent.
research A Humanized Mouse Model of Hereditary 1,25-Dihydroxyvitamin D–Resistant Rickets Without Alopecia
Researchers created a mouse model of a type of rickets that does not cause hair loss.
research Expanding Phenotype of Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis Caused by FAM111B Mutations: Report of an Additional Family Raising the Question of Cancer Predisposition and a Short Review of Early-Onset Poikiloderma
The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research A Comparative Study of a New Food Supplement, Viviscal, with Fish Extract for the Treatment of Hereditary Androgenic Alopecia in Young Males
ViviScal®, a food supplement, was found to be highly effective in treating hereditary hair loss in young males, while fish extract showed no impact.