research Skin manifestations of Bardet–Biedl syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
Search
for
Sort by
Research
270-300 / 1000+ results 
research Pearly Pinna Papules in a Young Female
The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
research Bachmann–Bupp syndrome and treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
research Dengue-Associated Telogen Effluvium Causing Body Dysmorphic Disorder
Dengue fever can cause hair loss that may lead to serious psychological issues like Body Dysmorphic Disorder in young women.
research Acquired epidermodysplasia verruciformis in a heart transplant patient
A heart transplant patient developed a skin condition called epidermodysplasia verruciformis after taking immune-suppressing drugs.
research ODP021 A Feminizing Adrenocortical Carcinoma Presenting with Marie-Antoinette Syndrome
A man's rare adrenal tumor caused feminization and white hair, was removed surgically, and improved after treatment.
research Polyglandular autoimmune syndrome type 4 with GAD antibody and dystonia
Dystonia may be part of PAS-4 and linked to immune issues.
research Double-Lined Frontoparietal Scleroderma en coup de sabre
The condition might be caused by genetic changes after birth.
research Amyloid-Associated Alopecia: A Reappraisal Including Its Pathophysiology
Amyloid deposits linked to a type of protein may cause a unique pattern of hair loss by disrupting hair growth cycles.
research Rothmund‐Thomson syndrome type 2 – a rare cause of chronic wounds
Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
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 Cutis Verticis Gyrata Heralding a Diagnosis of Primary Systemic Amyloidosis in a Patient with Cardioembolic Stroke
Recognizing CVG can help diagnose systemic amyloidosis early.
research Acquired Hypertrichosis Lanuginosa: A Rare Cutaneous Paraneoplastic Syndrome
research Rothmund Thomson syndrome with late onset and good preventive control of non-melanoma cancer with acitretin: case report
Acitretin effectively prevented skin cancer in a patient with late-onset Rothmund-Thomson syndrome.
research P050 Rapidly worsening subcutaneous oedema in a young boy: a case of juvenile dermatomyositis
Juvenile dermatomyositis can worsen quickly and needs strong treatment.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil
Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
research Lupus erythematosus-like lesions in a carrier of X-linked chronic granulomatous disease: A case report and personal considerations
A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
research Sebaceous carcinoma arising at a chronic candidiasis skin lesion of a patient with keratitis-ichthyosis-deafness (KID) syndrome
A man with KID syndrome developed a rare cancer in a long-term skin infection.
research Chronic inflammatory demyelinating polyneuropathy associated with alopecia totalis and Sjögren syndrome
Recognizing the link between certain autoimmune disorders and neurological conditions can improve diagnosis and treatment.
research A Case of Cutaneous Focal Mucinosis With Follicular Induction
A man with a skin nodule was diagnosed with a rare skin condition called cutaneous focal mucinosis, which can be confused with other skin cancers.
research Ichthyosis follicularis with alopecia and photophobia in a mother and daughter
A mother and daughter had severe skin, hair, and eye issues linked to IFAP.
research Ugreelig hår
A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature
Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
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 Alopecia in Rhesus macaques correlates with immunophenotypic alterations in dermal inflammatory infiltrates consistent with hypersensitivity etiology
Hair loss in Rhesus macaques may be caused by a skin allergy-related condition.
research Dermatological Manifestations of Down's Syndrome
People with Down's syndrome often have more skin problems due to a weak immune system.
research Hair Loss and Polyposis in Cronkhite-Canada Syndrome
Prednisone treatment helped a woman with Cronkhite-Canada syndrome recover from hair loss and digestive issues.