research When the skin meets the bowel: About a case
Ulcerative colitis can cause skin issues due to immune system problems.
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research Cronkhite-Canada syndrome: Report of an unusual case
The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.
research Congenital Zinc Deficiency from Mutations of theSLC39A4Gene as the Genetic Background of Acrodermatitis Enteropathica
A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
research Acrodermatitis dysmetabolica secondary to isoleucine deficiency in infant with maple syrup urine disease
A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
research Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
research Acrodermatitis enteropathica – a diagnostic challenge: case report of late-onset, genetically proven disease with normal zinc serum levels
Accurate diagnosis and zinc supplements can improve life quality in acrodermatitis enteropathica, even with normal zinc levels.
research P142 – 3046: Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: Report of additional three cases
ECCL should be considered in patients with specific skin and eye lesions.
research Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
research Table 1_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica effectively.
research Telogen effluvium as the first symptom of Crohn's disease in a child.
Hair loss in a child was an early sign of Crohn's disease.
research P78 Acrodermatitis enteropathica in children: clinical cases
Zinc supplements and genetic analysis help treat acrodermatitis enteropathica in children.
research ANAPHYLAXIS: A NOVEL TRIGGER OF TELOGEN EFFLUVIUM IN A CHILD WITH COW'S MILK ALLERGY
Anaphylaxis from cow's milk allergy can cause temporary hair loss in children.
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.
research Acrodermatitis enteropathica in an adult.
The woman's skin and health issues were due to a severe zinc deficiency.
research Dental considerations in acrodermatitis enteropathica: A report of two cases
Acrodermatitis enteropathica can be linked to dental issues, so thorough dental exams are important.
research Table 2_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica in infants.
research S3886 Concurrent Management of Crohn's Ileitis and Alopecia Universalis With Upadacitinib
Upadacitinib improved both Crohn's ileitis and alopecia universalis in a patient.
research THE FREQUENCY OF VISCERAL AND PHENOTYPIC MARKERS IN PATIENTS WITH THE COMBINATION OF UNDIFFERENTIATED CONNECTIVE TISSUE DISEASE AND GASTROESOPHAGEAL REFLUX DISEASE
Patients with both connective tissue disease and acid reflux are more likely to have certain symptoms and physical signs.
research 神経性無食欲症における自己誘発性嘔吐後に発生した慢性結節性痛風
Self-induced vomiting in anorexia can lead to rare gout complications.
research A case of encephalocraniocutaneous lipomatosis
The document reports a rare case of ECCL with a new association with optic disc colobomas.
research Cronkhite-Canada Syndrome: A Case Report
Steroids, infection management, and nutritional support can significantly improve symptoms of Cronkhite-Canada Syndrome.
research Clinical Spectrum of Cutaneous, Ocular, and Hair Manifestations in Patients With Inborn Errors of Immunity: Insights From a Single Center in Turkey
Recognizing unusual skin, eye, or hair issues can help diagnose immune system disorders early, especially in children.
research Leucocytoclastic vasculitis as onset symptom of ulcerative colitis
A 13-year-old girl with various symptoms was successfully treated for autoimmune disease using the antibiotic co-trimoxazole.
research Calcitriol-Resistant Rickets With Alopecia
Calcitriol-resistant rickets is an inherited disorder that affects hair growth and causes hair loss.
research Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia
A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
research Unusual Dermatologic Findings in an Extremely Low Birthweight Infant: The Genetic Diagnosis
An extremely low-birthweight infant had a rare genetic skin disease and died despite treatment.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
research Achalasia and hyperthyroidism: A co-occurrence revealing autoimmune connections
Early diagnosis and treatment of achalasia and hyperthyroidism improve patient outcomes.
research Isolated Amylase Deficiency as a Cause of Failure to Thrive
Isolated amylase deficiency can cause failure to thrive and should be checked with specific tests.