research [Wooly hair syndrome. Clinical and microscopic study].
Woolly hair syndrome is a genetic condition causing frizzy, fragile hair.
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300-330 / 1000+ resultsresearch [The Netherton syndrome with alopecia and prolinuria].
Netherton syndrome in a boy caused skin and hair issues, and treatment didn't work.
research Graham-Little Piccardi Lassueur Syndrome and review of the literature
Graham-Little Piccardi Lassueur Syndrome is a rare skin condition with specific hair loss and skin symptoms.
research Clinical, Dermoscopic and In-Vivo Reflectance Confocal Microscopy Evaluation of a Case of Graham Little-Piccardi-Lassueur Syndrome Successfully Treated with Narrowband-UVB Phototherapy
Narrowband-UVB phototherapy successfully treated a rare case of Graham Little-Piccardi-Lassueur syndrome.
research Localized Epidermolysis Bullosa Simplex (Weber-Cockayne type)
A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.
research Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity
A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder
Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
research Localized syringolymphoid hyperplasia with alopecia and anhidrosis
SLHA can be hard to diagnose and needs teamwork between specialists.
research Clinical Case Notes. Lipoid proteinosis: a rare disorder with pathognomonic lid lesions
A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
research LUPUS ERYTHEMATOSUS AND THE SKIN
Lupus affects the skin in various ways, and proper skin examination is crucial for diagnosis and treatment.
research Hair Anomalies in a 6-Year-Old Girl
A 6-year-old girl was diagnosed with a rare hair disorder called monilethrix.
research Erythrocyte deformability and hereditary elliptocytosis
Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
A new gene mutation is linked to monilethrix in the studied family.
research Delleman syndrome or Haberland syndrome?
The symptoms described align more with Haberland syndrome, not Delleman-Oorthuys syndrome.
research Cutaneous Lupus Erythematosus
Cutaneous lupus erythematosus is a common skin condition in lupus, affecting mostly young adult females.
research Clinicopathologic Case 2: Multiple Intraoral White Lesions in a 55-year-old Female
The patient was diagnosed with oral lichen sclerosus and needs long-term monitoring.
research Do you know this syndrome? * Você conhece esta síndrome? *
The document concludes that Loose Anagen Hair Syndrome is a benign condition where hair is thin and easily pulled out, often improving with age.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research Loose anagen syndrome in one identical twin girl
One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.
research “Solitary fibrofolliculoma of the eyelid
A rare eyelid tumor was successfully diagnosed and removed, highlighting the need for careful examination.
research Ocular manifestations of Hutchinson-Gilford-Progeria syndrome: A rare presentation
The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.
research Isolated long white eyelash: An underrecognized trichologic finding
A single long white eyelash is a rare but benign condition.
research Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the <i>LIPH</i> gene: a case report
A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
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 A 61-year-old Filipino man with lichen planus concomitant with cicatricial alopecia, mimicking discoid lupus erythematosus
A 61-year-old Filipino man had a skin condition that looked like another disease, making diagnosis difficult.
research De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring
A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
research 474 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
research Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature
Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
research 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis
A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.