research Epidermal cyst of temporal bone as a delayed complication of myringoplasty
An epidermal cyst in the temporal bone can occur as a rare delayed complication after ear surgery.
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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 Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Nevus comedonicus
Nevus comedonicus is a rare skin condition with grouped open pores, sometimes linked to other body issues.
research Eyebrow reconstruction in dormant keratosis pilaris atrophicans
Eyebrow reconstruction using hair follicle grafts was successful in a man with a benign hereditary disorder affecting his eyebrows.
research Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research [Association of a pediatric bullous eruption, cutaneous and muscular atrophy, hyperpigmentation and dysmorphism. A new entity?].
The boy's symptoms suggest a possible new medical condition.
research Successful treatment of eyebrow intradermal nevi by shearing combined with electrocautery and curettage: Two case reports
Eyebrow intradermal nevi were effectively removed with shearing, electrocautery, and curettage, leaving no scars or recurrence.
research Inherited Disorders of Corneocyte Proteins
Ichthyoses are genetic skin disorders that affect the skin's barrier function.
research Sjogren-Larsson Syndrome
If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
research Ultraviolet-Enhanced Trichoscopy—A New Tool to Assess Pili Annulati
UV-enhanced trichoscopy helps diagnose hair shaft disorders like pili annulati.
research Two Cases of Linear Alopecia on the Occipital Scalp
Two rare bald spots on the back of the scalp were found to be lupus, not alopecia areata.
research Coronal approach for rehabilitative orbital decompression in Graves' ophthalmopathy
The coronal approach is effective and safe for reducing eye bulging in Graves' eye disease.
research Overlap Between Ulerythema Ophryogenes and Keratosis Follicularis Spinulosa Decalvans: a Case Report
A 19-year-old male had two rare skin conditions causing scarring and permanent hair loss.
research Eruptive vellus hair cysts of the labia majora: detection of openings of the cysts to the epidermis by dermoscopy
Dermoscopy can non-invasively detect eruptive vellus hair cysts on the labia majora.
research Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
research Bilateral Eyelash Poliosis with Raccoon Erythema and Hypopigmentation-Contact Follicular Leukoderma
Topical eyedrops may cause eyelash whitening and skin lightening around the eyes.
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 Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
research Overexpression of HE4/WFDC2 gene in mice leads to keratitis and corneal opacity
Overexpression of the HE4 gene in mice causes eye inflammation and cloudiness.
research Linear morphea alopecia: New trichoscopy findings
Trichoscopy can reveal specific hair and scalp changes in linear morphea.
research PA11 A rare case of a severe papulopustular dermatosis secondary to a germline EGFR mutation
A rare genetic mutation in the EGFR gene caused severe skin issues and other health problems in a Slovakian girl, who is now 4 years old and receiving care.
research Nail Matrix Pathology in Cronkhite–Canada Syndrome: The First Case Report
Inflammation may cause nail issues in Cronkhite–Canada Syndrome.
research Congenital dyserythropoietic anaemia and dyskeratosis in Australian Poll Hereford calves
Two Australian Poll Hereford calves had severe anaemia, abnormal red blood cells, and skin issues.
research E031 Retinal vasculitis with Libman-Sacks endocarditis as presenting features of a systemic lupus erythematosus with antiphospholipid antibody syndrome patient
A young woman with visual issues and other symptoms was diagnosed with lupus and antiphospholipid syndrome, and improved with treatment.
research The features of onychomatrimas on in vivo reflectance confocal microscopy
Reflectance confocal microscopy can noninvasively diagnose onychomatricoma by showing unique features different from healthy nails or nail fungus.
research Systemic lupus Erythematous as an Unusual Cause of Intussusception in Sudanese Woman: Case report
Systemic lupus erythematosus caused severe abdominal issues in a Sudanese woman.
research Necrobiosis Lipoidica
Necrobiosis lipoidica may need new criteria for accurate diagnosis due to similarities with another condition.
research Use of chemotherapy during human pregnancy
Chemotherapy in the first trimester of pregnancy is risky, but in the second and third trimesters, it's generally safe with careful drug selection and timing.