research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
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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 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 392 Hair loss after drug reaction with eosinophilia and systemic symptoms: A multicentric retrospective study
Some patients who had a severe drug reaction developed long-term hair loss.
research Multiple and Recurrent Ocular Manifestations in a Patient of Vogt-Koyanagi-Harada Syndrome
Young patients with Vogt-Koyanagi-Harada syndrome may have poor vision outcomes despite treatment due to frequent recurrences.
research Aggressive treatment in paediatric or young patients with drug-induced hypersensitivity syndrome (DiHS)/drug reaction with eosinophilia and systemic symptoms (DRESS) is associated with future development of type III polyglandular autoimmune syndrome
Aggressive treatment in young patients with certain drug reactions may lead to multiple autoimmune diseases later.
research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Graham-Little-Piccardi-Lassueur Syndrome: Two Case Reports and Review of the Literature
The document concludes that treatment improved skin lesions but not scalp hair loss in two patients with Graham-Little-Piccardi-Lassueur syndrome.
research DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA
Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.
research Alopecia in a 19-Month-Old Boy
A 19-month-old boy with a rare hair disorder showed mild improvement with treatment, but his family chose gentle hair care due to limited success.
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 Dermoscopy: A rapid bedside tool to assess monilethrix
Dermoscopy quickly and accurately diagnosed a rare hair disorder in a 12-year-old girl.
research Monilethrix in three generations
Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
research Erythromelanosis Follicularis Faciei: First Case Report from Saudi Arabia
A 17-year-old in Saudi Arabia was diagnosed with a rare skin condition causing red-brown facial patches.
research Absence of Male-Pattern Baldness in Men with X-Linked Recessive Ichthyosis?
Men with X-linked recessive ichthyosis may not experience typical male-pattern baldness.
research 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa
Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
research Cutaneous asthenia (Ehlers–Danlos syndrome) in a cat
A cat in Turkey had Ehlers-Danlos syndrome, showing very stretchy skin and easy bruising.
research Azathioprine hypersensitivity in bullous pemphigoid
A woman with bullous pemphigoid had an allergic reaction to azathioprine, but got better with alternative treatments.
research SnapshotDx Quiz: May 2020
BIVV009 is a safe treatment for bullous pemphigoid that reduces C3 deposition without harmful side effects.
research Primary High‐Grade Ovarian Sertoli–Leydig Cell Tumor With Bilateral Adnexal Involvement in a Patient Diagnosed With Peutz–Jeghers Syndrome
Consider Sertoli-Leydig cell tumors in Peutz-Jeghers syndrome patients with adnexal masses.
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 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 Multiorgan Dysfunction in a 7-Month-Old Boy With Developmental Delay and Poor Growth
Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.
research Dermatological aspects of the S2k guidelines on Down syndrome in childhood and adolescence
Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
research First symposium on natural gene therapy of the skin
Natural gene therapy shows promise for treating skin disorders like epidermolysis bullosa.
research A girl with loose anagen hair syndrome and concurrent uncombable hair syndrome
A girl had two rare hair conditions that helped understand their overlap.
research Beta thalassemia revealing hypothyroidism: A case report
Frequent blood transfusions in beta thalassemia patients can lead to thyroid problems.
research Nail Matrix Pathology in Cronkhite–Canada Syndrome: The First Case Report
Inflammation may cause nail issues in Cronkhite–Canada Syndrome.
research A rare hair loss in children: Monilethrix
Monilethrix is a rare, inherited condition causing fragile hair and hair loss, with no cure but some treatments may help.
research Bilaterally Symmetrical Alopecia With Reticulated Hyperpigmentation
A Doberman Pinscher had a rare form of autoimmune disease causing hair loss and other severe symptoms.