research Central centrifugal cicatricial alopecia – an approach to diagnosis and management
Diagnose and manage CCCA with thorough history, exams, and labs; treat with anti-inflammatory agents, stress reduction, and stopping harmful hair practices.
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570-600 / 1000+ results research Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa
Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
research Severe metabolic disorders coexisting with Werner syndrome: a case report
A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.
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 Positive Jacquet's sign in traction alopecia
Recognizing Jacquet's sign helps diagnose and treat traction alopecia accurately.
research Scalp Sarcoidosis Presenting as Cicatricial Alopecia
A rare scalp condition causing hair loss improved with a specific cream.
research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.
research Lanceolate hair-J (lahJ ): A mouse model for human hair disorders
The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
research Acquired uncombable hair
A 39-year-old woman developed uncombable hair syndrome after taking oral contraceptives.
research BH21 Segmented heterochromia with calibre change: an under-recognized sign of alopecia areata
Segmented hair color changes can indicate active alopecia areata.
research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research Rapunzel syndrome: a rare form of trichobezoar in the stomach with some extension into the small intestine
An 8-year-old girl with Rapunzel syndrome had a hairball removed from her stomach and intestines and recovered well after surgery.
research Insight into the pathogensis of polycystic ovarian syndrome
The document's conclusion cannot be provided because the document is not accessible or understandable.
research [A case report of Cushing's syndrome due to an adrenal carcinoma].
A woman's Cushing's syndrome caused by adrenal cancer improved after surgery.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research BG02 A case of Werner syndrome: undiagnosed progeroid syndrome presenting as female pattern hair loss
A person with Werner syndrome was initially thought to just have female pattern hair loss.
research Sisaipho: A New Form of Presentation of Alopecia Areata
Researchers identified a new hair loss pattern called "sisaipho type," where hair is lost across the scalp except around the edges.
research Psoriasis associated with vulval scarring
Psoriasis can cause rare vulval scarring.
research Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy
Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
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 BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations
The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.
research Werner′s syndrome
Werner's syndrome causes early aging and increases cancer risk, requiring early diagnosis and symptom management.
research Secondary Syphilis in Patients Treated at the City Institute for Skin and Venereal Diseases in Belgrade from 2010 to 2014
The conclusion is that cerebrovascular diseases can cause seizure-like activity in stroke patients, which can be improved with antiepileptic drugs.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research Polyglandular autoimmune syndrome type 4 with GAD antibody and dystonia
Dystonia may be part of PAS-4 and linked to immune issues.
research Isolated patchy heterochromia with pili annulati features on light and electron microscopy
Isolated patchy heterochromia with pili annulati can occur without other health issues.
research POST-COVID 19 ENCEPHALITIS IN PATIENT WITH DE NOVO MUTATION IN THE SCN1A GENE, A CASE REPORT
A person with a new mutation in the SCN1A gene developed brain inflammation after COVID-19.