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He is recognised for his concept of the phakomatoses, often called neurocutaneous syndromes.
This condition is one of a group of diseases called neurocutaneous syndromes.
It is a type of neurocutaneous syndromes, called Abdallat type.
Neurofibromatosis is considered a member of the neurocutaneous syndromes (phakomatoses).
Manuel Gómez was most interested in neurocutaneous syndromes, and especially tuberous sclerosis.
Neurocutaneous syndromes.
Phakomatoses (or "neurocutaneous syndromes") are disorders of central nervous system that additionally result in lesions on the skin and the eye.
He grouped both TSC and neurofibromatosis together as "phakomatoses" (later called neurocutaneous syndromes).
A related neurocutaneous syndrome may be caused by mutations in the gene ALDH18A1 aka P5CS.
Giroux Barbeau Syndrome None Erythrokeratodermia with ataxia (EKDA) is a hereditary disorder of the skin and nervous system (neurocutaneous syndrome) characterized by groups of hard, red plaques that develop during infancy and childhood.
Parry-Romberg syndrome (also known as progressive hemifacial atrophy) is a rare neurocutaneous syndrome characterized by progressive shrinkage and degeneration of the tissues beneath the skin, usually on only one side of the face (hemifacial atrophy) but occasionally extending to other parts of the body.