Thelansis

  Farber's disease, called acid ceramidase deficiency or Farber lipogranulomatosis, is an autosomal recessive lysosomal disorder where ceramide accumulates, and gangliosides can also build up. The disease's clinical symptoms typically emerge within the initial months of life, presenting as joint deformities, progressive hoarseness, and granulomatous infiltration in subcutaneous tissues, kidneys, and lungs. Neurological deficits are also common. A promising approach to prevent deterioration involves hematopoietic cell transplantation, especially in cases lacking significant neurological issues. Farber disease is marked by a triad of subcutaneous nodules over extensor joints, painful arthritic joints, and hoarseness due to laryngeal involvement. These nodules may appear on the eyelids, lips, and gums. Four types of Farber lipogranulomatosis can manifest in the neonatal period. The classic disease, Type I, is a distinct disorder occurring between approximately 2 weeks and 4 mont

  Farber's disease, called acid ceramidase deficiency or Farber lipogranulomatosis, is an autosomal recessive lysosomal disorder where ceramide accumulates, and gangliosides can also build up. The disease's clinical symptoms typically emerge within the initial months of life, presenting as joint deformities, progressive hoarseness, and granulomatous infiltration in subcutaneous tissues, kidneys, and lungs. Neurological deficits are also common. A promising approach to prevent deterioration involves hematopoietic cell transplantation, especially in cases lacking significant neurological issues. Farber disease is marked by a triad of subcutaneous nodules over extensor joints, painful arthritic joints, and hoarseness due to laryngeal involvement. These nodules may appear on the eyelids, lips, and gums. Four types of Farber lipogranulomatosis can manifest in the neonatal period. The classic disease, Type I, is a distinct disorder occurring between approximately 2 weeks and 4 mont