research Nevus lipomatosus cutaneous superficialis with perifollicular fibrosis.
A rare skin condition in a baby showed unusual fat and hair follicle changes.
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390-420 / 1000+ resultsresearch 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 Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
research Epidermal Nevi
Epidermal nevi are skin cell clusters linked to various syndromes.
research 5175 A Rare Case of Type B Insulin Resistance Syndrome
Type B Insulin Resistance Syndrome is rare, linked to lupus, and hard to treat due to severe insulin resistance.
research Clouston’s Syndrome-A Case Report
Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.
research Isolated Linear Discoid Lupus Erythematosus of Scalp Following Lines of Blaschko
Linear Discoid Lupus Erythematosus of the scalp can cause hair loss and should be considered in similar cases.
research Scarring Alopecia With Coexisting Lichen Planus in a Child: A Rare Phenomenon
A child had a rare case of scarring hair loss with skin disease, which is hard to treat and stressful.
research Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
research Bilateral conjunctival lesions in Melkersson-Rosenthal syndrome
research Clinical Features of Systemic Lupus Erythematosus Patients Complicated With Evans Syndrome
SLE patients with Evans syndrome often show blood issues and need careful monitoring and treatment.
research Connexin 26 (GJB2) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma
Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
research Systemic scleroderma and lupus panniculitis with atypical clinical features: A case report and comprehensive review
A Japanese man with rare skin conditions improved with hydroxychloroquine treatment.
research Is the Loose Anagen Hair Syndrome a Keratin Disorder?
Loose anagen hair syndrome may be caused by keratin gene mutations.
research Congenital Lipedematous Alopecia in a 6-Year-Old Asian Boy
A 6-year-old Asian boy has a rare scalp condition causing hair loss and thickening, with unclear causes and no effective treatment.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome.
Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
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 A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research A Case of Cronkhite-Canada Syndrome Presenting with Hematochezia
Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
research Recognizing ophiasis pattern in discoid lupus: a rare diagnostic challenge
Dermatologists should recognize diverse discoid lupus signs to avoid misdiagnosis.
research Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT 5
The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
research Short Anagen Syndrome
Short anagen syndrome causes short hair that may grow longer after puberty.
research Coexistence of a Basal Cell Carcinoma and Leiomyosarcoma
A rare case showed basal cell carcinoma and leiomyosarcoma coexisting, needing careful diagnosis and treatment.
research Acquired ichthyosis, alopecia and loss of hair pigment associated with leiomyosarcoma.
A woman's skin and hair conditions improved after her cancerous tumor was removed.
research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
research Lipodermatosclerosis: a postphiebitic syndrome
The patient has a leg condition caused by vein issues, needing lifestyle changes and leg care.
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research Autoimmune polyendocrine syndrome type 1 a case report from Bangladesh
A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.
research Pseudoepitheliomatous Hyperplasia in Lichen Sclerosus of the Vulva
PEH in vulvar LS is common and needs careful diagnosis to avoid confusion with cancer.
research Acquired ichthyosis, alopecia and loss of hair pigment associated with leiomyosarcoma
Removing a tumor may resolve associated skin and hair symptoms.