research Phenotypic variability associated withWNT10Anonsense mutations
WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
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research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Trichothiodystrophy
Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
research Lymphoproliferative Disorders: Hot Topics in Dermatology 2019
The document updated knowledge on skin disorders, focusing on unusual moles in older adults, the progression from moles to melanoma, and evolving hair loss treatments.
research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India
Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research Dermatopathia pigmentosa reticularis: A report of a case with delayed onset alopecia and onychodystrophy
DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
research p63 in skin homeostasis and disease: molecular mechanisms and therapeutic potentials
Targeting the p63 gene could help treat skin diseases.
research Small molecules facilitate single factor-mediated sweat gland cell reprogramming
Small molecules can help turn skin cells into sweat gland-like cells for potential skin repair.
research Ectodysplasin A (EDA) Signaling: From Skin Appendage to Multiple Diseases
EDA signaling is linked to skin disorders, various cancers, and liver disease.
research Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson–Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
research Recombinant Thrombomodulin Used to Successfully Treat Cronkhite-Canada Syndrome with Disseminated Intravascular Coagulation due to Sepsis in a Compromised Patient
Recombinant thrombomodulin can effectively treat severe complications in Cronkhite-Canada syndrome.
research Squamous epithelial proliferation induced by walleye dermal sarcoma retrovirus cyclin in transgenic mice
The Walleye dermal sarcoma virus cyclin causes excessive skin cell growth in mice.
research Pathology in Practice
Three related Persian cats have a rare, likely hereditary skin condition causing hair loss and poor coat quality, with limited treatment options.
research Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review
TTD symptoms vary widely, requiring thorough evaluations.
research The Roles of EDA2R in Ageing and Disease
EDA2R is a key gene linked to ageing and diseases, and targeting it may help treat conditions like hair loss and chronic diseases.
research TNF superfamily in skin appendage development
TNF family proteins are crucial for the development of skin features like hair, teeth, and mammary glands.
research Commonly associated disorders with complete scalp alopecia in early childhood: A review
Six genetic conditions are often linked to complete scalp hair loss in children.
research The clinical spectrum of parathyroid disease
The document concludes that parathyroid diseases have a range of clinical features and outcomes, with some conditions being treatable and others having a high risk of mortality.
research Miscellaneous conditions
The document describes various skin conditions, their features, and treatments but lacks detailed study size information.
research SUMMARIES OF PAPERS
The document concludes that secondary syphilis cases are increasing and often misdiagnosed, pityriasis rubra pilaris can be distinguished from psoriasis by skin cell features, and different skin layers produce specific components during skin repair.
research Decay of Skin-Specific Gene Modules in Pangolins
Pangolins have lost some skin-related genes, but kept others, leading to their unique scales and skin features.
research Canine noninflammatory alopecia: a comprehensive evaluation of common and distinguishing histological characteristics
Different types of dog hair loss are linked to problems starting the hair growth phase and early hair cycle ending.
research The Spectrum of Cutaneous Manifestations in Lupus Erythematosus: A Comprehensive Review
Recognizing specific skin features helps diagnose and manage lupus erythematosus effectively.
research Skin of the Baikal Seal (Pusa sibirica, Phocidae): Norm and Pathology
Baikal seals' skin shows normal features for protection and some pathologies possibly linked to climate change or a virus.
research Dermoscopy of scalp tumours: a multi‐centre study conducted by the international dermoscopy society
The study concluded that scalp tumors show different patterns based on age, gender, and tumor thickness, and emphasized the importance of early detection and scalp examinations.
research Dermoscopy Update: Review of its Extradiagnostic and Expanding Indications and Future Prospects
Dermoscopy now helps diagnose various skin, hair, and nail issues, improving patient care and treatment understanding.
research Tissue engineering of skin and regenerative medicine for wound care
Current skin substitutes help heal severe burns but don't fully replicate natural skin features.