research Two siblings with uncombable hair syndrome: A new pathogenic variant
Two siblings have a rare hair condition caused by a new genetic variant.
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540-570 / 1000+ resultsresearch Acquired Generalized Hypertrichosis Due to Diazoxide
A 6-year-old boy developed excessive hair growth after taking diazoxide for low blood sugar.
research Tear film impairment and meibomian gland loss in patients with polycystic ovary syndrome
research Onychomadesis: A rare adverse effect in early-period valproic acid therapy
Valproic acid can very rarely cause nail separation, which usually gets better on its own after stopping the drug.
research Table 2_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica in infants.
research Familial Dyskeratotic Comedones: A Case Report and Literature Review
Familial dyskeratotic comedones are a rare, benign skin disorder that is hard to treat.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research Characterization of tiger tail banding and hair shaft abnormalities in trichothiodystrophy
Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
research Eruptive syringomas in Down’s syndrome
People with Down's syndrome are more likely to have syringomas.
research An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery
Early diagnosis and multidisciplinary care, including orthopedic surgery, can prevent long-term disability in IFAP syndrome.
research Ultraviolet-Enhanced Trichoscopy—A New Tool to Assess Pili Annulati
UV-enhanced trichoscopy helps diagnose hair shaft disorders like pili annulati.
research Extensive scleredema adultorum with loss of eccrine glands
A rare case of scleredema in a diabetic woman showed loss of sweat glands, causing heat strokes, with treatment only slightly improving symptoms.
research Ultraviolet-Induced Fluorescence and Sub-Ultraviolet Reflectance Dermatoscopy of Grover’s Disease (Transient Acantholytic Dermatosis): a Retrospective Single-Center Cohort Study
Ultraviolet techniques help identify Grover’s Disease, which may be underdiagnosed in young people and females.
research Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
research Facial Follicular Spicules: A Rare Cutaneous Presentation of Trichodysplasia Spinulosa
Trichodysplasia spinulosa can occur after a heart transplant due to immunosuppressive drugs.
research T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
research Alopecia Areata Ophiasic with Ciliary Madarosis in A Pediatric Patient: Case Report
A 10-year-old girl with hair and eyelash loss showed significant regrowth after treatment.
research Hair Coil Penile Tourniquet Syndrome in an Unusual Age
An 8-year-old boy recovered from a rare case of penile tourniquet syndrome after hair removal surgery.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research Trichomegaly in a 3-Year-Old Girl with Alopecia Areata
A young girl developed unusually long eyelashes with a hair loss condition without other health issues or medication causes.
research FOXN 1 Duplication and Congenital Hypertrichosis
FOXN1 duplication can cause excessive hair growth.
research Ichthyosis vulgaris involving the scalp area affected by androgenetic alopecia.
research CPC14 Blaschko-linear trichoepitheliomas: unveiling type 1 segmental mosaicism
A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
research [Netherton's syndrome in two sisters].
Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
research 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24
A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
research Toe-tourniquet syndrome: a diagnostic dilemma!
Hair or fiber wrapped tightly around a toe can lead to serious injury if not treated quickly.
research Histopathology of Hypotrichosis with Juvenile Macular Dystrophy
The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
research Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene
research Bilateral Nevus Comedonicus of the Eyelids
A 79-year-old man was diagnosed with a rare skin condition called nevus comedonicus on his eyelids.