research Dermatoscopy case of the month: Trichodysplasia spinulosa
A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
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90-120 / 1000+ resultsresearch TRICHOSTASIS SPINULOSA OR PINSELHAAR
Trichostasis spinulosa is a rare skin condition with hair-filled plugs in hair follicles.
research Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments.
Early genetic testing and new therapies like secukinumab are crucial for managing Netherton syndrome effectively.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
research Polarized microscopy in genetic hair disorders: case series
Polarized microscopy helps identify hair irregularities in genetic disorders.
research Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report
A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research Hair Shaft Abnormalities. Pili Bifurcati: A Scanning Electron Microscopy Analysis
The study found that pili bifurcati causes hair to intermittently split into two branches, each with its own outer layer.
research Pallister-Killian Syndrome
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
research Banded Scalp Hair with an Unusual Glistening Appearance in a Teenager: A Quiz
A teenager's hair with alternating white and dark bands, known as Pili annulati, is a genetic condition that is usually harmless and often considered attractive.
research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
research Canestick Lesion of Vellus Hair in Netherton's Syndrome
Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.
research When Rare Meets Risky: Clouston Syndrome with Cutaneous Squamous Cell Carcinoma
Clouston syndrome can lead to skin cancer, so monitoring is crucial.
research Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families
Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
research Becker's Nevus Syndrome
Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
research NETHERTON'S SYNDROME AND ICHTHYOSIS LINEARIS CIRCUMFLEXA
Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.
research An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Leptomeningeal angiomatosis accompanied by hair follicle nevus
A baby had a rare condition with abnormal blood vessels in the brain and unusual skin and hair growth, possibly a new syndrome.
research Two siblings with uncombable hair syndrome: A new pathogenic variant
Two siblings have a rare hair condition caused by a new genetic variant.
research Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research Lipedematous scalp with heterochromia of scalp hair in a boy
A boy had a rare scalp condition with thickened skin and different-colored hair.
research CENTRAL STATES DERMATOLOGICAL SOCIETY
A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
research NEW YORK ACADEMY OF MEDICINE, SECTION ON DERMATOLOGY AND SYPHILIS
An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
research Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome
Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
research A case of congenital pili multigemini
A rare, harmless hair condition was found in an infant's eyebrow, needing no treatment.
research Pseudopili Annulati in a Dark‐Haired Individual: A Light and Electron Microscopic Study
A dark-haired Chinese girl had hair that looked banded under certain light but was normal under a microscope.
research Papillon–Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature
Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.