research Bilateral nevus comedonicus of the eyelids: An unusual cause of ptosis and ectropion
A rare skin condition caused droopy and outward-turning eyelids in a patient.
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540-570 / 1000+ results research Defining the complex epithelia that comprise the canine claw with molecular markers of differentiation
Canine claws have complex structures with different keratin types, similar to hair and nails.
research The organization of the keratin I and II gene clusters in placental mammals and marsupials show a striking similarity
Keratin gene clusters in humans and marsupials are similarly organized.
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research Choroidal Melanoma and Lid Fibrofoliculomas in Birt-Hogg-Dubé Syndrome
A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
research Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis
Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
research Index of Suspicion
The girl's symptoms suggest a complex condition that's hard to diagnose despite normal test results.
research Rippled‐pattern trichomatricoma
A unique hair tumor with a rippled pattern was identified, showing incomplete differentiation and unusual cell arrangements.
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 Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
research Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability within a Pakistani Family
A specific gene mutation causes varying hair loss severity in a Pakistani family.
research Prevalance, clinical features and evaluation of the risk factors for onychocriptosis in adult diabetic patients in outpatient clinic
Diabetic patients often have ingrown nails due to obesity, high blood pressure, past injuries, bad nail trimming, nail fungus, weak foot pulse, and weak knee reflex.
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 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 Trichorhinophalangeal Syndrome
Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.
research Cross-species amplification of human microsatellite markers in pig-tailed and stump-tailed macaques
Some human genetic markers work for genetic studies in pig-tailed and stump-tailed macaques, which can help in their conservation.
research Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase
A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
research THE OCCURRENCE OF DISCOID LUPUS ERYTHROMATOSUS PROGRESSING TO SYSTEMIC LUPUS ERYTHEMATOSUS, WITH OVERLAPPING ANCA-ASSOCIATED VASCULITIS, AND RHEUMATOID ARTHRITIS PRESENTING AS PAPULAR-PURPURIC GLOVE AND SOCK SYNDROME
A woman with skin and joint issues progressed from one type of lupus to another, highlighting the need to recognize complex conditions.
research Acquired uncombable hair
A 39-year-old woman developed uncombable hair syndrome after taking oral contraceptives.
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.
research Hair shaft structures in EDAR induced ectodermal dysplasia
The EDAR gene mutation leads to thinner and more deformed hair shafts.
research Polyglandular Autoimmune Syndrome Type 3D : A Case Report
Autoimmune Polyendocrine Syndromes involve specific combinations of endocrine and non-endocrine autoimmune diseases.
research Disorders of Sex Development
DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
research Is There an Association Between Male Alopecia Areata and the Ratio of Second to Fourth Finger Length?
A lower second to fourth finger length ratio may predict male alopecia areata.
research Hair Shaft Dysplasias
Hair shaft dysplasias are abnormal hair conditions that can be inherited or acquired and may signal other health issues, with limited treatment options available.
research Follicular dysplasia in two cows
Two cows had a rare hair disorder causing hair loss but were otherwise healthy.
research Case of Cronkhite Canada Syndrome - A Non-Inherited Gastrointestinal Polyposis Syndrome
A 56-year-old man was diagnosed with Cronkhite-Canada Syndrome after showing symptoms like diarrhea, weight loss, and skin changes.
research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
research Combined Alopecia Areata and Acquired Hypertrichosis Lanuginosa in Celiac Disease- A Rarest Phenomenon
A rare combination of hair loss and excessive fine hair growth was found in celiac disease patients.
research A unique presentation of trichofolliculoma in amniotic band syndrome
Trichofolliculoma was found in a person with amniotic band syndrome for the first time.