research Rippled‐pattern trichomatricoma
A unique hair tumor with a rippled pattern was identified, showing incomplete differentiation and unusual cell arrangements.
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240-270 / 1000+ resultsresearch Connexin 26 (GJB2) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma
Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
research CLINICAL PEARLS
The document discusses challenges in eye care, including treating melanoma before macular hole repair, bloody tears resolved by blood pressure control, eyelash regrowth in hair-pulling disorder with medication, a non-invasive method to detect eyelash mites, and the psychological factors affecting contact lens comfort.
research Value of dermoscopy for the diagnosis of monilethrix
Dermoscopy helped diagnose a rare hair disorder in a 2-year-old boy.
research Regeneration of the epidermis and mucosal epithelium on the basement membranes
The skin and mucous membranes can regenerate over the basement membrane after damage, using nearby surviving cells.
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 Gene detection in a family with monilethrix and treatment with 5% topical minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.
research Connexin mutations in human disease
Connexin mutations can cause various diseases like hearing loss and skin disorders.
research Horizontal and vertical sections of scalp biopsy specimens from dermatomyositis patients with scalp involvement
Scalp biopsies from dermatomyositis patients show chronic hair loss without scarring, with mucin and blood vessel changes being very common.
research Generalized multiple eruptive milia in an infant – An unusual presentation
A baby had a rare case of widespread milia, which was treated and is being monitored.
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 Madarosis from mitochondriopathy
Mitochondriopathy may cause eyelash loss.
research Dermatopathology and molecular genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research First symposium on natural gene therapy of the skin
Natural gene therapy shows promise for treating skin disorders like epidermolysis bullosa.
research Porokeratotic eccrine ostial and dermal duct nevus: A noteworthy presentation
PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
research Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa
research Porokeratotic Eccrine Duct and Hair Follicle Nevus (PEHFN) Associated with Keratitis-Ichthyosis-Deafness (KID) Syndrome
A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
research Erythromelanosis follicularis faciei et colli with reticulated hyperpigmentation of the extremities
A rare skin condition causes red and dark patches on the face and limbs.
research Formation of the cornified envelope
The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
research A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
The new model helps understand and develop treatments for genetic skin disorders like AEC.
research LAMELLAR ICHTHYOSIS: ONE CASE REPORT
Treatment with moisturizers improved the skin condition of a girl with a rare genetic skin disorder.
research Cystoid macular oedema in uveitis: An unsolved problem
Treating cystoid macular oedema in uveitis is difficult and risky.
research An Unusual Presentation of Mucous Membrane Pemphigoid
Treatment with prednisolone and dapsone stopped new blisters and partially healed previous ones.
research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
research Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion
The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
research Transglutaminase-mediated cross-linking in mammalian epidermis
research Upper Eyelid Nodule - An Unusual Presentation of Ocular Demodicosis
A 62-year-old woman got a lump on her eyelid from tiny mites, which is the first time this has happened.
research The role of cathepsin E in terminal differentiation of keratinocytes
Cathepsin E is crucial for normal skin cell differentiation and development.
research 178 Neutrophil elastase is critical in linear IgA bullous dermatosis in mice
CD8+ T cells attack hair follicle stem cells, causing scarring and hair loss.
research Newer approaches to dry eye therapy: Nanotechnology, regenerative medicine, and tissue engineering
New treatments using advanced technology aim to improve dry eye disease care.