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.
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570-600 / 1000+ results research Animal models of human skin disease
Mutations in certain skin proteins cause severe skin issues, while others have limited effects, highlighting the need to understand these proteins for better treatments.
research A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome?
The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
research Fungal Zoonoses
Fungal infections like ringworm affect skin, hair, and nails in humans and animals, requiring culture for diagnosis and specific treatments.
research Growth of the Mouse Coat VII. Hair Cycles and Sebaceous Glands in Homozygous and Heterozygous Naked Mice
The Naked gene in mice causes abnormal sebaceous glands and disrupts hair follicle organization.
research MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.
research Spiny Keratoderma
Spiny keratoderma is a rare skin condition with small spines on palms and soles, possibly linked to abnormal hair formation.
research Dermal Adnexal Neoplasms: Exploring Rare Variants and Their Clinical Behavior
Histopathology is crucial for accurately diagnosing and predicting outcomes of skin adnexal tumors.
research Novel missense mutation in the EDA gene in a family affected by oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
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 921 Generation of a new rodent model of scleroderma
Researchers created a new mouse model for studying scleroderma.
research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
research Neuregulin3 alters cell fate in the epidermis and mammary gland
Neuregulin3 affects cell development in the skin and mammary glands.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2
Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
research Cutaneous Adnexal Cysts Revisited: What We Know and What We Think We Know
A new classification system for skin cysts was proposed to improve diagnosis.
research Sebaceous gland diseases: clinical picture risk factors and treatment
Different sebaceous gland diseases can be treated with medications, hormone therapy, or surgical methods.
research Progenitor cells expressing nestin, a neural crest stem cell marker, differentiate into outer root sheath keratinocytes
Nestin-expressing progenitor cells become outer root sheath keratinocytes.
research Subepidermal Calcified Nodule
A calcified nodule on a boy's face came from hair follicles and expelled calcium through the skin.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research LB1031 Immune Cell-Mediated Amplification of Stem Cell Activation in Hairy Melanocytic Nevus via Osteopontin-CD44 Axis
Immune cells boost stem cell activity in hairy moles, causing more hair growth.
research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research Expanding the Phenotypic Spectrum of Olmsted Syndrome
TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
research High proliferation and delamination during skin epidermal stratification
High proliferation and cell delamination drive early skin development, while later stages may not rely on cell division orientation.
research Miscellaneous Disorders
Trichorrhexis nodosa causes hair to break easily, often affecting young to middle-aged black women.
research A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
A gene mutation in mice causes skin defects and early death.
research Keratin 71 Mutations: From Water Dogs to Woolly Hair
A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
research Panfolliculoma: report of two cases
Panfolliculoma is a rare, non-cancerous growth related to hair follicles.
research Sarcoidosis in Polo Ponies: Case Study of Argentine-Cross Breeds
Argentine-cross polo ponies commonly develop sarcoid tumors with distinct types and histopathological features.
research Hoxc13 mutant mice lack external hair
Hoxc13 gene is essential for hair, nail, and papilla development.