research Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility
Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
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research Suprabasal Desmoglein 3 Expression in the Epidermis of Transgenic Mice Results in Hyperproliferation and Abnormal Differentiation
Overexpressing Dsg3 in mice skin causes excessive cell growth and abnormal skin development.
research Notes from the Editor Emeritus: Coincidental Epigenetics or Post-Finasteride Syndrome (PFS)?
The conclusion is that more research is needed to understand if the drug finasteride causes Post-Finasteride Syndrome or if it's due to individual genetic makeup.
research An Australian family with macular dystrophy linked to autosomal recessive alopecia universalis
An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.
research 464 Phenotypic heterogeneity of epidermolysis bullosa associated with the recurrent pathogenic variant p.(Arg2000Trp) in plectin
The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
research Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings
Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
research Acquired Structural Defects of the Hair
External factors like certain shampoos, bacterial infections, and parasites might cause hair defects similar to genetic conditions.
research Scalp involvement in pemphigus: a prognostic marker
Scalp involvement in pemphigus means the disease is more severe and harder to treat.
research Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
Different gene mutations cause different types of ichthyosis, with some new mutations found.
research Index of Suspicion
Early diagnosis and treatment are crucial for complex medical conditions.
research Kerion Celsi caused by Microsporum gypseum in a Chinese child, a case report
A Chinese boy's scalp infection from a guinea pig was cured with medication.
research 921 Generation of a new rodent model of scleroderma
Researchers created a new mouse model for studying scleroderma.
research Plica polonica following use of homeopathic antidandruff shampoo containing canthalin
A homeopathic antidandruff shampoo caused severe hair matting in a girl.
research Sebaceous Gland, Hair Shaft, and Epidermal Barrier Abnormalities in Keratosis Pilaris with and without Filaggrin Deficiency
Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
research A Case Report of Cronkhite-Canada Syndrome Complicated by Membranous Nephropathy
Rituximab may be an effective treatment for Cronkhite-Canada syndrome with kidney disease.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research Lichen Spinulosus: Case Report and Review of Literatures
A 12-year-old boy's rare skin condition improved with topical treatments and may resolve by puberty.
research Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
research Morbihan disease and extrafacial lupus miliaris disseminatus faceie: a case report
A 30-year-old man with rare skin conditions improved with antibiotics and surgery, hinting at a link to rosacea.
research Circumscribed Alopecia: An Unusual Manifestation of Pediculosis Capitis
Head lice can cause unusual patchy hair loss.
research Plica Neuropathica (Polonica) Secondary to Diffuse Alopecia: A Case Report and Literature Review
Plica neuropathica can occur with diffuse alopecia and should be considered in diagnosis.
research Comprehensive treatment of Cronkhite-Canada syndrome: A case report and literature review
Traditional Chinese medicine may help relieve symptoms of Cronkhite-Canada syndrome.
research Shock: A possible presenting manifestation of autoimmune polyendocrine syndrome type II
Shock can be an early sign of Autoimmune Polyendocrine Syndrome Type II.
research Pendekatan Diagnosis Ensefalomielitis Diseminata Akut
ADEM is a sudden brain disorder often following infection or vaccination, diagnosed by ruling out other conditions.
research Trichothiodystrophy in a child with occult learning disorder
Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
research Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case
The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
research Alopecia areata incognita in Cronkhite-Canada syndrome
The report suggests that hair loss in Cronkhite-Canada syndrome may be caused by alopecia areata incognita, as shown by a patient's improvement with treatment.
research A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A specific gene mutation causes sparse, brittle hair in a family.
research Navigating diagnostic challenges in syphilitic alopecia: insights from dermoscopy
Syphilitic alopecia can look like alopecia areata, so careful diagnosis is important.
research Pinpoint white dots in the scalp: Dermoscopic and histopathologic correlation
Small white dots on the scalp seen with a dermoscope correspond to sweat ducts and vary with different hair disorders.