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600-630 / 1000+ resultsresearch In utero Diagnosis of Trichothiodystrophy by Endoscopically-Guided Fetal Eyebrow Biopsy
Prenatal diagnosis of trichothiodystrophy is possible in the second trimester using fetal eyebrow biopsy, with sulfur content analysis being more reliable.
research Nonclassic Congenital Adrenal Hyperplasia: An Overview
Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
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 Parry Romberg Syndrome: When the Diagnosis of a Rare Disease Is Made in the Primary Care Setting
Parry Romberg syndrome requires awareness and teamwork in primary care for proper diagnosis and management.
research Imaging sonographic findings of in a case of proliferating trichilemmal tumor of a finger: A case report
A rare finger tumor was imaged, showing a unique pattern not seen before.
research 034 Characterization of novel TMEM173 mutation causing a lupus- and SAVI-like phenotype, modified by polymorphisms in TMEM173 and IFIH1
A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
research Severe form of keratitis–ichthyosis–deafness (KID) syndrome associated with septic complications
Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
research Cystic panfolliculoma of the conchal bowl
Cystic panfolliculoma is a rare, harmless tumor that can be confused with other skin tumors.
research Rheumatoid arthritis and gouty arthritis in an adult patient with Down's syndrome
A 44-year-old woman with Down's syndrome was diagnosed with both rheumatoid and gouty arthritis and treated with multiple medications.
research 012 A Case Report of Central Centrifugal Cicatricial Alopecia in Two Generations
CCCA can affect both genders and all ages, and it has a genetic component.
research A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
A new mutation in the KRT86 gene causes a hair disorder with variable expression.
research Clouston syndrome associated with eccrine syringofibroadenoma
Clouston Syndrome can be linked to rare sweat gland tumors.
research Congenital cataract and slowly progressing facial skin lesions in a 5‐year‐old boy
A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
research Poster presentationsDP11 Bright, eosinophilic intracytoplasmic inclusion bodies: a rare presentation of acquired epidermodysplasia verruciformis with widespread human papillomavirus infection in a transplant recipient
A rare case of a transplant patient developing a skin condition linked to HPV-49.
research Infantile vitiligo and alopecia in immunodysregulation polyendocrinopathy enteropathy X‐linked syndrome
Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
research Porokeratotic eccrine and hair follicle nevus: a report of two cases and review of the literature
Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
research Petechiae on the fingertips as presenting symptom of dermatitis herpetiformis Duhring
Red spots on fingertips can be a sign of a skin condition linked to gluten sensitivity, treatable with a gluten-free diet.
research Chronic telogen effluvium: Potential complication for clinical trials in female androgenetic alopecia?
CTE can distort results in hair growth trials, so exclude it carefully.
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 Olmsted syndrome
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
research MTHFR C677T Polymorphism and Serum Homocysteine Level as Risk Factors of Coronary Heart Disease in Patients with Androgenetic Alopecia: A Case Control Study
Androgenetic alopecia is linked to a higher risk of coronary heart disease due to certain genetic factors and high homocysteine levels.
research Alopecia in congenital hidrotic ectodermal dysplasia responding to treatment with a combination of topical minoxidil and tretinoin
Hair loss in Clouston's syndrome improved with minoxidil and tretinoin treatment.
research A case of lupus miliaris disseminatus faciei after allogeneic hematopoietic stem cell transplantation
A man developed facial skin lesions after a stem cell transplant, which improved with specific treatments.
research Localized Primary Cutaneous Nodular Amyloidosis in a Patient With Paraproteinemia
An elderly man with skin amyloidosis and abnormal blood proteins was monitored without finding widespread disease after 18 months.
research Acrodermatitis continua resistant to etanercept: Therapeutic challenge and Unfortunate outcome
A man with Acrodermatitis continua did not get better with etanercept treatment, and his condition worsened, suggesting treatment effectiveness may vary by genetics and race.
research An unusual presentation of dermatomyositis: The type Wong variant revisited
A woman with dermatomyositis showed rare skin symptoms, was treated successfully, and her case suggests checking for cancer in similar patients.
research Central centrifugal cicatricial alopecia in Black men: A case series highlighting key clinical features in this cohort
The document concludes that early and accurate diagnosis of hair loss on the top of the scalp in Black men is important to distinguish CCCA from other types of hair loss.
research Multiple desmoplastic trichoepitheliomas with ossification and cholesterol deposition
A man had rare skin tumors with bone formation and cholesterol deposits.
research An Australian family with macular dystrophy linked to autosomal recessive alopecia universalis
An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.