research Analysis of skin graft survival using green fluorescent protein transgenic mice
GFP transgenic mice help study cell origins in skin grafts.
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research Clinical presentations of alopecia areata
Alopecia areata causes varying hair loss patterns, affecting hair, nails, and possibly glands, with treatment outcomes depending on disease duration and extent.
research Hair Evaluation in Orthodontic Patients with Oligodontia
Most orthodontic patients with missing teeth also have hair disorders.
research Assessment of the Embryological Origin, Anatomical and Histological Structure of the Skin
The skin is vital for protection, temperature control, fluid balance, immunity, and sensing, with damage affecting daily life and mental health.
research Hypotrichosis congenita of Marie Unna
A 54-year-old woman experienced progressive hair loss starting in adolescence, leading to sparse scalp hair and almost no eyebrows or eyelashes.
research Adult Stem Cells as an Alternative Source of Multipotential (Pluripotential) Cells in Regenerative Medicine
Adult stem cells can become many different cell types, offering wide possibilities for repairing damaged tissues.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
research Ulerythema ophryogenes with multiple congenital anomalies
The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
research Trichothiodystrophy Associated with Urologic Malformation and Primary Hypercalduria
Trichothiodystrophy can be linked to urologic issues and high calcium in urine.
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.
research Trichothiodystrophy -A Case Report-
Trichothiodystrophy causes unusual hair and developmental issues.
research Disorders of Keratinization
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
research Common Dermatologic Disorders in Down Syndrome: Systematic Review
People with Down syndrome often have skin issues and need regular check-ups for early treatment.
research The keratins and their disorders
Mutations in keratin genes cause cell fragility and various skin disorders.
research Common Dermatologic Disorders in Down Syndrome: Systematic Review (Preprint)
People with Down syndrome have a higher risk of skin disorders and need better screening and treatment.
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research Inherited ichthyosis: Syndromic forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Characterization ofCDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy
CDH3-related disease causes worsening eye and hair issues.
research Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
Specific mutations in a receptor cause facial abnormalities and hair loss.
research Dermatological aspects of the S2k guidelines on Down syndrome in childhood and adolescence
Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
research Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
research Defects in Androgen Biosynthesis Causing 46,XY Disorders of Sexual Development
Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.
research Hair dysplasias
Hair dysplasias involve various hair disorders causing fragility, breakage, and poor hair adhesion.
research Inherited ichthyoses/generalized Mendelian disorders of cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Olmsted syndrome
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
research Dyschromatosis Universalis Hereditaria: Report of a case and Review of the Literature
A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.