To date, there are six specific epidermal nevus syndromes identified: sebaceous nevus syndrome, nevus comedonicus syndrome, Becker nevus syndrome, phakomatosis
pigmentokeratotica, Proteus syndrome, congenital hemidysplasia with ichthyosiform nevus and limb defects, and cutaneous-skeletal hypophosphatemia syndrome.
MRS also has proved useful for assessment of developmental delay; neurodegenerative, inflammatory, metabolic and neuropsychiatric disorders; phakomatosis
, hypoxic-ischaemic brain injury and epilepsy.
Thus, most of the iris nodules can be accompanied by NF type 1, phakomatosis
pigmentovascularis (PPV) type IIb, and oculodermal melanocytosis [1-7].
NF1 is an autosomal dominant neurocutaneous disorder (phakomatosis
), with an incidence of roughly 1 per 3,000-4,000 live births .
NS that can be associated with other syndromic features such as mental retardation, central nervous system abnormalities, oculocardiac defects, or skeletal abnormalities is called linear NS syndrome, or Schimmelpenning syndrome (a neurocutaneous phakomatosis
). In this case, no involvement of oral and genital mucosae was seen.
Cardiac RM is considered a hamartomatous lesion that usually occurs in children with phakomatosis
, such as tuberous sclerosis.
Due to the heightened risk for a host of potential neuroectodermal related malignancies associated with this phakomatosis
, patients are advised to undergo appropriate targeted annual screening and surveillance.
The cutaneous stigmata of Fabry disease: an X-linked phakomatosis
associated with central and peripheral nervous system dysfunction.
Lonser, "Chapter 6, von hippel-lindau disease," in Neurocutaneous Disorders: Phakomatosis
and Hamartoneoplastic Syndromes, M.
Neurofibromatosis type I is the most common type of phakomatosis
or neurocutaneous syndrome, occurring in one out of every 2000 live births with no predilection for gender or race [49, 50].
This entity usually occurs as an isolated anomaly but it may also be a part of multisystemic birth anomalies such as cerebello-trigeminal-dermal dysplasia or phakomatosis
pigmentovascularis type 2 (5).
Linear cutaneous neuromas (dermatoneurie en stries): a limited phakomatosis
with striated pigmentation corresponding to cutaneous hyperneury (featuring multiple endocrine neoplasia syndrome?).