phakomatosis


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phakomatosis

 [fak″o-mah-to´sis]
any of five hereditary syndromes (neurofibromatosis, tuberous sclerosis, Sturge-Weber syndrome, and von Hippel-Lindau disease, and ataxia-telangiectasia) marked by disseminated hamartomas of the eye, skin, and brain.

phac·o·ma·to·sis

(fak'ō-mă-tō'sis),
A generic term for a group of hereditary diseases characterized by hamartomas involving multiple tissues; for example, von Hippel-Lindau disease, neurofibromatosis, Sturge-Weber syndrome, tuberous sclerosis. Patients with phacomatosis may develop pheochromacytomas.
Synonym(s): phakomatosis
[Van der Hoeve's coinage fr. G. phakos, mother-spot]

phakomatosis

/phak·o·ma·to·sis/ (fak″o-mah-to´sis) pl. phakomato´ses   any of a group of congenital hereditary developmental anomalies having selective involvement of tissues of ectodermal origin, which develop disseminated glial hamartomas; examples are neurofibromatosis, tuberous sclerosis, Sturge-Weber syndrome, and von Hippel-Lindau disease.

phakomatosis

[fak′ōmətō′sis] pl. phakomatoses
Etymology: Gk, phako, lens, oma, tumor, osis, condition
(in ophthalmology) any of several hereditary syndromes characterized by benign tumorlike nodules of the eye, skin, and brain. The four disorders designated phakomatoses are neurofibromatosis (Recklinghausen's disease), tuberous sclerosis (Bourneville's disease), encephalotrigeminal angiomatosis (Sturge-Weber syndrome), and cerebroretinal angiomatosis (von Hippel-Lindau disease). Also spelled phacomatosis.

pha·co·ma·to·sis

(fak'ō-mă-tō'sis)
A generic term for a group of hereditary diseases characterized by hamartomas involving multiple tissues (e.g., von Hippel-Lindau disease, neurofibromatosis, Sturge-Weber syndrome, tuberous sclerosis).
Synonym(s): phakomatosis.
[Van der Hoeve's coinage fr. G. phakos, mother-spot]
References in periodicals archive ?
9%) of phakomatosis that was tuberous sclerosis in a 6-year-old male, who presented to Paediatric OPD with seizures, delayed mental development and skin manifestations.
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.
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?
Linear nevus sebaceous syndrome (LNSS) is a phakomatosis, associated with a variety of developmental abnormalities of ocular, nervous, skeletal, cardiovascular and urogenital systems.
a1) Neurofibromatosis represents a form of disseminated phakomatosis.
Although nevus anemicus is an isolated finding in normal healthy individuals, it may occur in association with genodermatoses such as neurofibromatosis, and in conjunction with nevus flammeus and Mongolian spot in phakomatosis pigmentovascularis.
There were no palpable neck mass, no retinal lesions, and no phakomatosis.
MR imaging of tuberous sclerosis: pathogenesis of this phakomatosis.
The common spinal manifestations of this common phakomatosis are also discussed.
Central Nervous System manifestations of the Phakomatosis and other inherited syndromes.