research Poikiloderma Congenital: An Early Case of Rothmund-Thomson Syndrome
A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
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research Poikiloderma, Hyperpigmentation, Alopecia, Hypohidrosis, Malformed Bones, Lymphedema of the Legs and Decreased Cortisol Level: A New Entity?
A new medical syndrome may include skin changes, hair loss, sweating issues, bone malformations, leg swelling, and low cortisol.
research Expanding Phenotype of Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis Caused by FAM111B Mutations: Report of an Additional Family Raising the Question of Cancer Predisposition and a Short Review of Early-Onset Poikiloderma
The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
research A Novel Mutation in the FERMT1 Gene in a Spanish Family with Kindler’s Syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
research Clinical and Molecular Features in a Cohort of Middle Eastern Patients With Epidermolysis Bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
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