research Clouston syndrome associated with eccrine syringofibroadenoma
Clouston Syndrome can be linked to rare sweat gland tumors.
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930-960 / 1000+ resultsresearch Follicular dystrophy of immunosuppression
Follicular dystrophy in immunocompromised patients may be linked to medication or viral factors and can improve with treatment changes.
research Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients
Arab APS1 patients have unique and recurrent AIRE gene mutations.
research Postzygotic KRAS G12C mutation, associated with various malignancies, is also underling epidermal nevus syndrome
A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
research CRISPR/Cas9-mediated Generation ofCOL7A1-deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa
Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
research An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia
Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.
research Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities
Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
research 284 Deciphering the pathogenesis of central centrifugal cicatricial alopecia
CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
research Dyad of infantile cutaneous and thymic Langerhans cell histiocytosis: Is it rare?
Thymic LCH may be underdiagnosed, so thymic ultrasound should be considered in infants with cutaneous LCH.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research To Control Site-Specific Skin Gene Expression, Autocrine Mimics Paracrine Canonical Wnt Signaling and Is Activated Ectopically in Skin Disease
The research suggests that a specific skin gene can be controlled by signals within and between cells and is wrongly activated in certain skin diseases.
research Pathogenesis of Hand-Foot Syndrome induced by PEG-modified liposomal Doxorubicin
PEGL-DOX causes Hand-Foot Syndrome due to skin reactions from prolonged circulation and ROS generation.
research Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency—x-linked recessive ichthyosis: a case report and review of literature
A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
research An autopsy case of unicentric C astleman's disease associated with bronchiolitis obliterans
A woman with Castleman's disease died from respiratory failure due to bronchiolitis obliterans.
research 9. Immunology and Genetics
The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
research Keratosis Follicularis Spinulosa Decalvans
KFSD is a rare condition causing scarring hair loss, with no effective treatment known at the time of the report.
research Three orphans one should know: red scalp, red ear and red scrotum syndrome
The document concludes that early recognition and appropriate treatment of red scalp, red ear, and red scrotum syndromes can lead to remission.
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research FAVOURE RACOUCHOT SYNDROME WITH SCALP INVOLVEMENT: A CASE REPORT
A rare skin condition usually found near the eyes was found on a farmer's scalp.
research Cutaneous manifestations of systemic lupus erythematosus in Pakistani children
Children with systemic lupus erythematosus have different skin symptoms than adults.
research Lupus Erythematosus Profundus with Multiple Overlying Cutaneous Ulcerations: A Rare Case
A patient with a rare form of lupus improved after treatment for skin ulcers and hair loss on the face and scalp.
research Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
research https://researchopenworld.com/genetics-of-hidradenitis-suppurativa/#
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
research Impaired Notch‐MKP ‐1 signalling in hidradenitis suppurativa: an approach to pathogenesis by evidence from translational biology
Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.
research The molecular basis of human keratin disorders
research Psychoactive drugs and skin
Some psychoactive drugs can cause skin reactions, with carbamazepine having a higher risk, and stopping the drug and seeing a dermatologist is important.
research Cutaneous Toxicities From Transplantation-Related Medications
Skin problems from transplant drugs are common and need careful management in organ transplant patients.
research Study of Cutaneous Manifestations in End Stage Kidney Disease Undergoing Hemodialysis
Patients on hemodialysis commonly have skin color changes, nail problems, dry skin, and itching.
research Nevoid Basal Cell Carcinoma Syndrome
Nevoid basal cell carcinomas start in the skin and hair follicles.
research Spontaneous cutaneous adverse drug reaction reports—An analysis of a 10‐year dataset in Singapore
In Singapore, most skin reactions to drugs were in females and Chinese, often caused by painkillers, antibiotics, and some other drugs, with serious cases linked to genetics.