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 ?
Linear nevus sebaceous syndrome (LNSS) is a phakomatosis, associated with a variety of developmental abnormalities of ocular, nervous, skeletal, cardiovascular and urogenital systems.
The common spinal manifestations of this common phakomatosis are also discussed.
a1) Neurofibromatosis represents a form of disseminated phakomatosis.
There were no palpable neck mass, no retinal lesions, and no phakomatosis.
Sturge-Weber syndrome (encephalotrigeminal angiomatosis) is a sporadic phakomatosis of unknown etiology that may be characterized by (1):
org PEMPHIGUS, FAMILIAL See: Ichthyosis PEPCK DEFICIENCY See: Lactic Acidosis; Mitochondrial Disorders PERIPHERAL NEUROPATHY See: Charcot-Marie-Tooth Disease PERONEAL MUSCULAR ATROPHY See: Charcot-Marie-Tooth Disease PERVASIVE DEVELOPMENTAL DISORDER (PDD) See: Autism PEUTZ-TOURAINE SYNDROME See: Colon Cancer, Hereditary; Polyposis PFEIFFER SYNDROME See: Craniofacial Disorders PHAKOMATOSIS See: Tuberous Sclerosis PHENYLKETONURIA (PKU) See also: Metabolic Disorders Children's PKU Network 1520 State St.
org 3,9 PEUTZ-TOURAINE SYNDROME See: Peutz-Jeghers Syndrome; Polyposis PFEIFFER SYNDROME See: Craniofacial Disorders PHAKOMATOSIS See: Tuberous Sclerosis PHENYLKETONURIA (PKU) See also: Metabolic Disorders Children's PKU Network 1520 State St.