research Syndrome of Birt–Hogg–Dubé, a Histopathological Pitfall With Similarities to Tuberous Sclerosis
Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
Search
for
Sort by
Research
720-750 / 1000+ resultsresearch Alopecia areata and subsequent Marie Antoinette syndrome following COVID-19 infection and vaccination: A case report
COVID-19 infection and vaccination may trigger hair loss and rapid hair whitening.
research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
research 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
research Incomplete Sjögren-Larsson Syndrome in Two Japanese Siblings?
research Clinico-sonographic Correlation and Predictors of Polycystic Ovarian Syndrome
Oligomenorrhea is the strongest predictor of PCOS severity.
research Two Cases of Danon Disease – A ‘Cousin’ of Pompe Disease
Danon disease can be hard to diagnose due to non-specific symptoms.
research Clinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms
Sporadic trichoblastic neoplasms generally don't recur or spread, with one case showing a specific genetic fusion.
research Oligosecretory multiple myeloma: Unusual presentation of a rare clinical disease
A woman with a rare form of multiple myeloma had a headache and a skull mass, which led to her diagnosis after tests and a biopsy.
research Clinical Snippets
Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.
research Klinisch redeneren: diagnostiek bij thyreotoxicose in de eerste lijn: een case-report
Diagnosing thyroid disorders is complex and requires thorough testing due to nonspecific symptoms like hair loss.
research Multicentric Reticulohistiocytosis Induced Alopecia: A Clinical Case Report
Alopecia can be caused by multicentric reticulohistiocytosis.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Virilism and Ectopic Expression of HSD17B5 in Mature Cystic Teratoma
A woman's mature cystic teratoma caused her virilization by producing testosterone.
research A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research MON-336 Ovaries Reveal Their Inner Testes
A woman's severe male-like symptoms were caused by a rare, benign tumor in her ovary that produced male hormones.
research Loose Anagen Syndrome
Loose anagen syndrome causes easy hair shedding in children, often resolving on its own.
research Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers.
The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
research Is there male androgenetic alopecia the sign of male equivalent of polycystic ovary syndrome or metabolic syndrome
Men with early hair loss and hormonal changes like PCOS could be the male equivalent of PCOS, not linked to metabolic syndrome.
research Hair Manifestations of Systemic Disease
Hair changes can indicate systemic diseases or medication effects.
research THE KAINAR SYNDROME : HISTORY AND MODERN UNDERSTANDING
Kainar syndrome symptoms may be linked to nuclear test exposure effects.
research Polycystic ovary syndrome in adult women
PCOS is a common hormonal disorder in women that can affect skin, fertility, and metabolism, and treatment is tailored to individual needs.
research More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Clinical Features and Current Therapeutic Approaches to Monilethrix: A Systematic Review
Topical and oral minoxidil are the best treatments for monilethrix.
research Rare steroid cell tumor found in region North Brazil: case report
A rare ovarian tumor was diagnosed in a woman from North Brazil, and surgery is the preferred treatment.
research A Case of Rhupus with Rowell Syndrome
A patient with Rhupus was diagnosed with Rowell syndrome and treated with various medications.
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research Monilethrix in pattern distribution in siblings: Diagnosis by trichoscopy
Trichoscopy can diagnose monilethrix, a genetic hair defect causing hair thinning and loss.