Griscelli SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Griscelli Syndrome
Griscelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy. Researchers have identified three types of this disorder, which are distinguished by their genetic cause and pattern of signs and symptoms.
The three types of Griscelli syndrome are caused by mutations in different genes: Type 1 results from mutations in the MYO5A gene, type 2 is caused by mutations in the RAB27A gene, and type 3 results from mutations in the MLPH gene.
Griscelli syndrome is a rare condition; its prevalence is unknown. Type 2 appears to be the most common of the three known types.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Jasmin Deschner-Kuemmerle practices practicing medicine in Tuebingen, Germany. Ms. Deschner-Kuemmerle is rated as an Elite expert by MediFind in the treatment of Griscelli Syndrome. She is also highly rated in 18 other conditions, according to our data. Her clinical expertise encompasses Neonatal Onset Multisystem Inflammatory Disease, Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, and Mevalonate Kinase Deficiency.
Isabelle Paut-Kone practices practicing medicine in Paris, France. Ms. Paut-Kone is rated as an Elite expert by MediFind in the treatment of Griscelli Syndrome. She is also highly rated in 34 other conditions, according to our data. Her clinical expertise encompasses Mevalonate Kinase Deficiency, Muckle-Wells Syndrome, Familial Cold Autoinflammatory Syndrome, Neonatal Onset Multisystem Inflammatory Disease, and Vitrectomy.
Warren Clinic Dermatology
Johnathan Ledet, M.D. is a board-certified dermatologist with advanced expertise in skin cancer diagnosis and treatment. Specializing in Mohs surgery, Dr. Ledet provides precise, effective removal of skin cancer while preserving healthy tissue. In this video, Dr. Ledet explains his philosophy treating various types of skin cancer, including basal cell carcinoma and squamous cell carcinoma. Learn how Dr. Ledet ensures patient comfort and the highest success rates with this specialized surgical technique. Dr. Ledet is rated as an Experienced provider by MediFind in the treatment of Griscelli Syndrome. He is also highly rated in 11 other conditions, according to our data. His clinical expertise encompasses Basal Cell Skin Cancer, Squamous Cell Skin Carcinoma, Extramammary Paget Disease, and Actinic Keratosis.
Published Date: September 01, 2013
Published By: National Institutes of Health