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.
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690-720 / 1000+ resultsresearch Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
New mutations in the hairless gene may cause hair loss and affect bone development.
research Expression of retinoic acid receptors and dermal-epidermal interactions during mouse skin morphogenesis
Retinoic acid can change skin development, like turning scales into feathers or forming glands.
research Cronkhite-Canada syndrome: A rare disease presenting with dermatological and gastrointestinal manifestations
A patient with Cronkhite-Canada syndrome improved with nutritional support and steroids, but early diagnosis is key due to high mortality.
research Cronkhite-Canada syndrome: case description
An 80-year-old woman with Cronkhite-Canada syndrome had multiple polyps and symptoms like diarrhea, hair loss, nail issues, and dark skin.
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 KERATIN PHENOTYPES IN BASAL-CELL CARCINOMAS OF THE SKIN
Basal cell carcinoma shows keratin patterns similar to hair follicle structures.
research Unusual dermoscopic features in a patient with alopecia areata
Alopecia areata can show unusual red-dotted vessels and dithranol treatment may mask typical patterns.
research Repigmentation of leukoderma in a piebald patient associated with a novel c-KIT gene mutation, G592E, of the tyrosine kinase domain
A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
research Trichodysplasia spinulosa associated with chemotherapy for acute lymphocytic leukaemia
Two boys developed a viral skin infection during chemotherapy, which resolved with improved immune function.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research Trichorhinophalangeal Syndrome
Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.
research Lack of classic histology should not prevent diagnosis of necrolytic acral erythema
Consider necrolytic acral erythema in similar cases and treat with oral zinc sulfate.
research Nevus psiloliparus: Newly described histopathological features from transverse sections
Nevus psiloliparus lacks mature hair follicles but keeps other skin structures intact.
research Acrodermatitis Enteropathica: A Case Report Involving a Delayed Diagnosis
Early diagnosis and lifelong zinc supplementation are crucial for treating acrodermatitis enteropathica effectively.
research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research A Rare Case of Orthokeratotic Hyperkeratosis in a Kid Induced by Malassezial Dermatitis
A young goat with skin issues improved with medication and supplements.
research Gastrointestinal polyposis with protein-losing enteropathy, abnormal skin pigmentation and loss of hair and nails (Cronkhite-Canada syndrome)
Cronkhite-Canada Syndrome often leads to death within 6-18 months.
research Familial hypotrichosis of the scalp. Autosomal dominant inheritance in four generations.
A family had a genetic condition causing hair loss on the scalp, passed down through four generations.
research Trichostasis Spinulosa of the Heel: Unique Presentation with Characteristic Morphology
A rare skin condition usually on the face was found on a man's heel.
research Diffuse Gastrointestinal Polyposis With Skin, Hair, and Nail Changes
A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.
research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research Thyroid related skin manifestation and their association with autoimmune dermatology
Thyroid disorders are linked to skin issues and autoimmune skin diseases.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research Human stratum corneum proteomics reveals cross‐linking of a broad spectrum of proteins in cornified envelopes
A wide range of proteins are integrated into the skin's protective layer.
research Cutaneous manifestations of COVID-19: a systematic review and analysis of individual patient-level data
Certain skin rashes can indicate COVID-19 severity, with chilblains-like rashes linked to milder cases and livedoid patterns to more severe cases.
research Characterization of a new tissue-engineered human skin equivalent with hair
research Hair: more than just an appendage
A boy and his father with hereditary hypotrichosis simplex were treated for hair loss, but the treatment result is unknown.