research Diffuse Gastrointestinal Polyposis With Skin, Hair, and Nail Changes
A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.
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870-900 / 1000+ results research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
research CUTANEOUS MASTOCYTOSIS IN CHILDREN: AN INDIAN EXPERIENCE
Fox Fordyce disease can occur in prepubertal girls and may be underdiagnosed.
research Perspectives of Kennedy's disease
Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
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 Cronkhite-Canada Syndrome: an unusual finding of gastro-intestinal adenomatous polyps in a syndrome characterized by hamartomatous polyps
Cronkhite-Canada syndrome can sometimes show unusual colonic adenomatous polyps.
research 13. Wound Healing & Hair
Minoxidil may improve hair transplants and combining treatments could help alopecia areata.
research HAIR DEPIGMENTATION AND DERMATITIS – AN UNEXPECTED PRESENTATION OF CYSTIC FIBROSIS
Cystic fibrosis can cause unusual symptoms like hair color changes, which can improve with proper treatment.
research NEW YORK ACADEMY OF MEDICINE, SECTION ON DERMATOLOGY AND SYPHILIS
An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
research A clinical case of CNOT3 syndrome in a 10-year-old girl
Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
research An Unusual Case of Diarrhea, Dysgeusia, and Grainy and Nodular Mucosa
A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.
research Strange cutaneous abnormalities and polyposis in an Asiatic man
A Laotian man with unusual skin changes and multiple growths in his gut was diagnosed with Cronkhite-Canada Syndrome and improved with nutritional and immune-based treatments.
research Premature aging and cancer development in transgenic mice lacking functional CYLD
Lack of functional CYLD in mice leads to early aging and cancer.
research El teorema del 0,7 o el otro teorema de Pitágoras
A CCS patient with severe complications was successfully treated using combined therapies.
research Congenital erythropoietic porphyria five years observation with standard treatment: a case report
Standard treatment for congenital erythropoietic porphyria was ineffective over five years.
research FOX FORDYCE DISEASE IN A PREPUBERTAL GIRL
A 10-year-old girl with Fox Fordyce disease improved with treatment, suggesting the disease can occur before puberty and might be underdiagnosed in young girls.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research [Two cases of the rare Cronkhite-Canada syndrome].
Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
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 The River of Stem Cells
The document concludes that certain chemicals can help maintain stem cell pluripotency and that understanding cell states is crucial for tissue regeneration.
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 Acrodermatitis Enteropathica
Acrodermatitis enteropathica is a rare inherited disorder causing skin issues, diarrhea, and hair loss.
research A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
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 GEOGRAPHIC TONGUE IN TWO CHILDREN WITH NONPUSTULAR PSORIASIS
Fox Fordyce disease might be more common in prepubertal girls than thought and can be managed with treatment.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
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 A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.