research Trichothiodystrophy
Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
Search
for
Sort by
Research
360-390 / 1000+ results
research Cryptococcoid Sweet syndrome: A case report and literature review
Cryptococcoid Sweet syndrome can be linked to hydralazine use and multiple autoantibodies, requiring high clinical suspicion and more research.
research Tourniquet syndrome: Interest of a systematic analysis of families’ social conditions to detect neglect situations
Checking family social conditions in tourniquet syndrome cases can help find neglect.
research A Decade With Sheehan's Syndrome: A Case Report and Personal Experience.
Early diagnosis and management of Sheehan's syndrome are crucial for improving quality of life and fertility.
research Polyglandular Syndrome Type 1 Complicated with Dilated Cardiomyopathy: A Case Report
A 27-year-old with APS-1 showed improvement in symptoms after treatment.
research When Rare Meets Risky: Clouston Syndrome with Cutaneous Squamous Cell Carcinoma
Clouston syndrome can lead to skin cancer, so monitoring is crucial.
research Dyschromatosis Universalis Hereditaria: Report of a case and Review of the Literature
A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
research Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case
The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
research Supplementary Material for: TOFACITINIB IN OVERLAPPING AUTOIMMUNE AND AUTOINFLAMMATORY DISORDERS: A CASE REPORT OF A DUAL GRAHAM-LITTLE-PICCARDI-LASSEUR SYNDROME AND HIDRADENITIS SUPPURATIVA
Tofacitinib significantly improved symptoms in a patient with overlapping autoimmune disorders.
research A Case of Cronkhite-Canada Syndrome Presenting with Hematochezia
Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
research Complex X chromosome rearrangement associated with multiorgan autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
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 Hypothyroidism with too Many Associations Case Report
The patient with autoimmune hypothyroidism improved after treatment for thyroid and associated conditions.
research Central nervous system involvement in autoimmune polyglandular syndrome
Autoimmune polyglandular syndrome can cause temporary brain issues that may improve on their own.
research Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research The SAHA Syndrome
SAHA syndrome links oily skin, acne, excess hair, and hair loss in women, similar to PCOS.
research TOFACITINIB IN OVERLAPPING AUTOIMMUNE AND AUTOINFLAMMATORY DISORDERS: A CASE REPORT OF A DUAL GRAHAM-LITTLE-PICCARDI-LASSEUR SYNDROME AND HIDRADENITIS SUPPURATIVA
Tofacitinib effectively treated a woman's complex autoimmune and autoinflammatory disorders.
research Desferrioxamine treatment of aceruloplasminemia: Long‐term follow‐up
Finasteride may help reduce symptoms in male Tourette syndrome patients.
research S3301 Abnormal Liver Enzymes in Thymoma-Associated Multiorgan Autoimmunity
Thymoma-associated multiorgan autoimmunity can cause liver damage and affects multiple organs, with limited treatment options and a generally poor prognosis.
research Serious Delayed Hair Toe Tourniquet Syndrome with Bone Erosion and Flexor Tendon Lesion
A baby's toe was severely damaged by a hair tourniquet, leading to bone and tendon damage, but improved after surgery and treatment.
research P095 The Very Interesting Small Bowel Lesions of Cronkhite-Canada Syndrome
Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.
research Symmetrical acrokeratoderma: A peculiar entity in China? Clinicopathologic and immunopathologic study of 34 new cases
Symmetrical Acrokeratoderma (SAK) may be a unique skin condition in China, lacking specific treatment and needing long-term monitoring.
research Dermatoscopy case of the month: Trichodysplasia spinulosa
A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
research Case of Cronkhite Canada Syndrome - A Non-Inherited Gastrointestinal Polyposis Syndrome
A 56-year-old man was diagnosed with Cronkhite-Canada Syndrome after showing symptoms like diarrhea, weight loss, and skin changes.
research Case 4-2012
Early diagnosis and treatment of TPP can prevent complications.
research A Filipino with Systemic Lupus Erythematosus-Scleroderma Overlap Syndrome
Recognizing and treating overlap syndrome in connective tissue diseases is crucial.
research Trichorrhexis Nodosa Secondary to Argininosuccinicaciduria
Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
research [Successful treatment of "steroid-immunosuppressant resistant" polymyositis with immunoadsorption].
Immunoadsorption successfully treated a man's resistant polymyositis.
research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
research High-sulfur protein deficient human hair: clinical aspects and biochemical study of two unreported cases of a variant type of trichothiodystrophy
Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.