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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720-750 / 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 Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report
A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
research Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome
Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
research Alopecia areata: Line‐field confocal optical coherence tomography features and dermoscopy correlation
LC-OCT is a promising tool for diagnosing and monitoring Alopecia areata.
research A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family
A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
research Hepatitis C ‐related mixed type vitiligo in a patient with I vemark syndrome
A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research Ocular comorbidities and its relation to clinical and dermoscopic features in patients with alopecia areata: a case-control study
Routine eye exams may be needed for alopecia areata patients due to common eye issues.
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 Leprosy on the scalp
A man from Brazil had a rare case of leprosy on his scalp, which improved with treatment.
research Reversible hypopigmentation of hair secondary to Vitamin B12 deficiency
Vitamin B12 deficiency can cause reversible hair color loss in children.
research Combined melanocytic nevus presenting with scalp alopecia associated with alopecia areata: Coincidence or causal?
A man's scalp hair loss was due to a combined melanocytic nevus and alopecia areata, suggesting a possible link between the two conditions.
research Segmental Becker’s Nevi with Mucosal Involvement
A 16-year-old boy had a rare case of Becker's nevus on his face and mouth.
research Double-Lined Frontoparietal Scleroderma en coup de sabre
The condition might be caused by genetic changes after birth.
research Persistent Hypoglycemia and Macrosomia in a Newborn
A newborn with severe low blood sugar due to a genetic issue needed major surgery after standard treatments failed.
research When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
research A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.
Pachyonychia congenita is linked to a keratin gene on chromosome 17.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Papillon–Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature
Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.
research Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
research An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
research Linear immunoglobulin A/immunoglobulin G bullous dermatosis associated with Vogt-Koyanagi-Harada disease
A man had two rare autoimmune diseases that might be connected.
research Primary Vitreoretinal Lymphoma Presenting Solely with Asymptomatic Peripheral Drusenoid Lesions
Older patients with new retinal lesions may have cancer, and local radiation might not stop it from spreading.
research Genomic and transcriptomic landscape to decipher the genetic basis of hyperpigmentation in Lanping black-boned sheep (Ovis aries)
Two genes, ERBB4 and ROR1, may cause the unique pigmentation in Lanping black-boned sheep.
research Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata
Certain genes on chromosomes 6, 10, 16, and 18 may increase the risk of alopecia areata.
research GLOMERULAR MEMBRANOUS NEPHROPATHY AND WERNER SYNDROME: A CASE REPORT
A potential genetic link between Werner syndrome and kidney disease was suggested.
research ERYTHROMELANOSIS FOLLICULARIS FACIEI ET COLLI
Three Iranian men had reddish-brown facial pigmentation with no effective treatment.
research Loose Anagen Hair Syndrome
A 6-year-old girl's inability to grow her hair long was due to Loose Anagen Hair Syndrome, which causes hair to shed easily and may improve with age.
research Curly : a new hair defect mutation in the SELH/bc mouse strain
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.