research Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
Search
for
Sort by
Research
690-720 / 1000+ results research Nevus lipomatosus cutaneous superficialis with folliculosebaceous cystic hamartoma
A rare skin growth was successfully removed without recurrence after one year.
research Crystalline Cataract and Uncombable Hair
The study found no common cause for a girl's crystalline cataract and uncombable hair, suggesting their co-occurrence might be coincidental.
research A patient with Cronkhite-Canada syndrome whose entire digestive tracts was examined endoscopically
Prednisolone improved symptoms in a woman with Cronkhite-Canada syndrome, but regular screenings are needed due to cancer risk.
research Rothmund‐Thomson syndrome type 2 – a rare cause of chronic wounds
Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
research Ectopic sebaceous gland: a developmental anomaly
A 21-year-old had a rare developmental anomaly with a misplaced sebaceous gland in a hair follicle.
research “Osler’s phenomenon”: misdiagnosing Cushing’s syndrome
Doctors often diagnose Cushing's syndrome late, which worsens symptoms; earlier detection is needed.
research 332 Generation of a gene expression signature for sebaceous glands by transcriptome comparison of psoriasis and sebaceous hyperplasia
Sebaceous gland atrophy and abnormal function may contribute to hair loss in psoriasis.
research Loose anagen hair syndrome
research Post-finasteride syndrome - a true clinical entity?
research Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research 1340 低熱セメントを用いた高強度コンクリート実大施工実験 : その4 硬化コンクリートの性状
Evaluate prolactin levels with androgen and thyroid tests to rule out endocrine issues in patients with SAHA syndrome symptoms.
research Pseudopelade of Brocq
Pseudopelade of Brocq is a unique hair loss condition, but its cause and development are still not fully understood.
research (16) The Graham-Little syndrome Follicular keratosis with cicatricial alopecia
Graham-Little syndrome causes scarring hair loss and skin bumps.
research Multiple Concurrent Pilonidal Sinuses: Case report and Literature review
Multiple pilonidal sinuses can be successfully treated with a mix of surgery and conservative care.
research COLOCALIZATION OF ALOPECIA AREATA AND LICHEN PLANUS
Alopecia areata and lichen planus can occur together in children, which is important for diagnosis and treatment.
research Localized Epidermolysis Bullosa Simplex (Weber-Cockayne type)
A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.
research SWEET SYNDROME: AN UNUSUAL PRESENTATION OF CHRONIC GRANULOMATOUS DISEASE IN A CHILD
A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.
research Systemic-Onset Juvenile Idiopathic Arthritis with unusual Cutaneous Manifestation and peripheral eosinophilia: Case Report
Early diagnosis and treatment of systemic-onset juvenile idiopathic arthritis are crucial for improvement.
research Lipedematous alopecia, an entity on the rise
A 59-year-old woman was diagnosed with a rare hair loss condition called lipedematous alopecia.
research Acrodermatitis enteropathica‐like skin eruption with neonatal seizures in a child with biotinidase deficiency
Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.
research Epidermolysis Bullosa Acquisita Occuring In A Patient With Systemic Lupus Erythematosus
A woman with lupus also developed a severe skin condition linked to a genetic factor.
research “Solitary fibrofolliculoma of the eyelid
A rare eyelid tumor was successfully diagnosed and removed, highlighting the need for careful examination.
research Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review
The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research Diagnosis Of Satoyoshi Syndrome Using A Neuroblastoma Cell (SH-SY5Y) Lysate As Substrate For Western Blot
SH-SY5Y cell lysate is effective for diagnosing Satoyoshi syndrome.
research Segmental cherry angiomas associated with extragenital lichen sclerosus: A report of two cases
Two patients had a rare combination of red skin spots and white scaly skin lesions not on the genitals.
research Insulin Resistance Syndrome- the Sensitive IRS
Insulin resistance is linked to many health problems and is influenced by diet, genetics, and other factors.
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 LUPUS PANNICULITIS AS AN INITIAL MANIFESTACION OF SYSTEMIC LUPUS ERYTHEMATOSUS: A CASE REPORT
Lupus Panniculitis can be an early sign of Systemic Lupus Erythematosus.