Synonym(s)
Neurofibromatosis type VIII; Watson Syndrome
HistoryThis section has been translated automatically.
Noonan and Ehmcke, 1963; Watson, 1967
DefinitionThis section has been translated automatically.
Rare syndrome with pulmonary valve stenosis, café-au-lait spots, mental retardation, dwarfism, macrocephaly, Lisch nodules. Common clinical signs of peripheral neurofibromatosis.
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Occurrence/EpidemiologyThis section has been translated automatically.
Panethnic, at 1/2,500 live births.
EtiopathogenesisThis section has been translated automatically.
Controversial. An association with autosomal-dominantly inherited mutations of the Watson syndrome gene (WSS gene, gene locus: 17q11.2) with consecutive neurofibromin disorder is suspected.
ManifestationThis section has been translated automatically.
Congenital. Depending on the phenotype, the symptoms often manifest themselves in early childhood or in young adults.
Clinical featuresThis section has been translated automatically.
Very heterogeneous expression in different organs.
- Integument: Lisch nodules (see also peripheral neurofibromatosis). Often café-au-lait stains and axillary freckling. Pigmentation of the oral mucosa. Nevi: Mostly disseminated melanocytic nevi, hemangiomas, circumscribed lymphangiomas, lentigines and nevi spili. Pea-sized, skin-coloured to bluish, broad or stalked neurofibromas. Cutis laxa (especially in infancy). Bulging nail beds of the upper or lower extremity. Keratosis follicularis of the face or on the extensor sides of the extremities. Deep hairline.
- Eyes: Eyes set wide apart, often slanted, ptosis, visual defects (including strabismus, myopia).
- Nose: Broad nostrils, which occasionally lead to restrictive breathing problems in infancy.
- Mouth: Upper lip usually clearly thickened, highly arched palate, small jaw (malocclusion), often delayed teething and increased caries tendency.
- Ears: Deep set and dorsally displaced ears, thickened outer edge and helix, earlobes turned upwards, hearing loss due to frequently blocked ears, occasionally sensory-related hearing loss.
- Neck: Short, wide or running down at the sides (children and adults).
- Chest: Funnel chest, nipples wide apart.
- Spine: Often scoliosis.
- Musculature: Hypotension (reduced muscle tone and overstretching of some joints).
- Heart: pulmonary valve stenosis or malformation.
LaboratoryThis section has been translated automatically.
Factor XI is often degraded. Molecular genetic analysis (karyotype).
DiagnosisThis section has been translated automatically.
Clinic, lab.
Differential diagnosisThis section has been translated automatically.
TherapyThis section has been translated automatically.
No causal therapy possible. Possible surgical treatment of disfiguring and life-threatening symptoms.
LiteratureThis section has been translated automatically.
- Bernauer TA et al (2001) Neurofibromatosis type 1 Part II. Non-head and neck findings. J Am Acad Dermatol 44: 1027-1029
- Caldemeyer KS et al (2001) Neurofibromatosis type 1 Part I. Clinical and central nervous system manifestations. J Am Acad Dermatol 44: 1025-1026
- Kume H et al (2001) Bilateral testicular tumour in neurofibromatosis type 1 Lancet 357: 395-396
- Leroy K et al (2001) Malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1: a clinicopathologic and molecular study of 17 patients. Arch Dermatol 137: 908-913
- Noonan JA, Ehmke DA (1963) Associated noncardiac malformations in children with congenital heart disease. Journal of Pediatrics (St. Louis) 63: 468-470
- Noonan JA (1968) Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. Am J Dis Child (Chicago) 116: 373-380
- Otsuka F et al (2001) Lisch nodules and skin manifestation in neurofibromatosis type 1 Arch Dermatol 137: 232-233
- Sangueza OP et al (1998) Neoplasms with neural differentiation: a review. Part II: Malignant neoplasms. At J Dermatopathol 20: 89-102
- Vabres P et al (2002) Absence of Lisch nodules in sporadic neurofibromatosis type 1 may reflect somatic mosaicism. Arch Dermatol 138: 839-840
- Watson GH (1967) Pulmonary stenosis, café-au-lait spots, and dull intelligence. Arch Dis Child (London) 42: 303-307
- Wolkenstein P et al (2003) Visibility of neurofibromatosis 1 and psychiatric morbidity. Arch Dermatol 139: 103-104
- Wolkenstein P et al (2001) Quality-of-life impairment in neurofibromatosis type 1: a cross-sectional study of 128 cases. Arch Dermatol 137: 1421-1425
- Wolkenstein P et al (2001) Bleeding: a complication of neurofibromatosis 1 tumors. Arch Dermatol 137: 233-234
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Outgoing links (16)
Axillary freckling; Café-au-lait stain; Dystrophia pigmentosa; Irishamartom; Keratosis pilaris; Lentiginosis profusa; Lentigo; Lymphangioma circumscriptum; Mccune-albright syndrome; Naevus; ... Show allDisclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer