The term neurocutaneous syndrome was subsequently defined by the Russian-American neurologist Paul Ivan Yakovlev and psychiatrist Riley H. Guthrie and it is currently more commonly used.The first clinical description was made in “Monstrorum Historia” by an Italian physician and naturalist named Ulisse Aldrovandi who described a patient with probable neurofibromatosis type I in 1592. He described a short man with a large tumor which was likely a plexiform neurofibroma. However, there are artistic or descriptive representations which have been speculated to depict individuals with phakomatoses as far back as the Hellenistic period and ancient Egypt.Over time, the number of neurocutaneous syndromes have increased and there are several dozen that have been characterized. Types
There are a large number of neurocutaneous syndromes that exceed the scope of this article. Therefore, characteristics of a few of the more common types are summarized. Neurofibromatosis Type I (von Recklinghausen disease)
Neurofibromatosis type 1 is the most common phakomatosis and it affects approximately 1 in 2500-3000 live births. It is a genetic disorder due to a germline mutation in the NF1 gene. This gene encodes a protein called neurofibromin that is involved in controlling cellular growth. Malfunction of the gene results in multisystem manifestations involving the skin, central nervous system, peripheral nervous system, eyes and musculoskeletal system. The condition is inherited in an autosomal dominant manner. However, approximately one-half of patients with this condition have no family history and the mutation occurs spontaneously.
As of 2021, there has been no reported recurrence of ectopic papillary hidradenomas. Prognosis after complete surgical removal of anogenital and ectopic papillary hidradenomas is excellent. Malignant transformation of papillary hidradenomas
Transformations of papillary hidradenomas into malignant forms are extremely rare. Two cases progressed to in situ (malignant cells present in the tumor but have neither metastasized, i.e. spread to distant tissues nor invaded beyond the layer of tissue from where they arose) cancers; two cases appeared to have infiltrated locally but not metastasized; and one case was a rapidly fatal lesion that appeared to be an adenosquamous carcinoma that arose in a papillary hidradenoma. It is not clear that these cases actually represent true progression of papillary hidradenoma into a cancer. See also
Hidroacanthoma simplex
List of cutaneous conditions

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