Depigmented hypertrichosis following Blaschko's lines associated with cerebral and ocular malformations: A new neurocutaneous, autosomal lethal gene syndrome from the group of epidermal naevus syndromes?

British Journal of Dermatology

Volumn 142, Issue 6, 2000, Pages 1204-1207

  Schauder, Silvia ^b   Hanefeld, F ^a   Noske, U M ^a   Zoll, B ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

Author keywords

Autosomal lethal gene syndrome; Blaschko's lines; Cerebral malformations; Depigmented hypertrichosis; Epidermal naevus syndromes; Neurocutaneous syndrome

Indexed keywords

ADULT; ARTICLE; BRAIN MALFORMATION; CASE REPORT; DISEASE ASSOCIATION; EYE MALFORMATION; HUMAN; HYPERTRICHOSIS; LETHAL GENE; MALE; NEUROCUTANEOUS SYNDROME; PRIORITY JOURNAL;

ADULT; BRAIN; EYE ABNORMALITIES; HUMANS; HYPERTRICHOSIS; HYPOPIGMENTATION; MALE; NEUROCUTANEOUS SYNDROMES; NEVUS, INTRADERMAL; SKIN NEOPLASMS;

EID: 0034088061     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.2000.03551.x     Document Type: Article

References (8)

1. 1 Högler W, Sidoroff A, Weber F et al. Aplasia cutis congenita, uvula bifida and bilateral retinal dystrophy in a girl with naevus sebaceous syndrome. Br J Dermatol 1999; 140: 542-3.
2. 2 Traupe H. Functional X-chromosomal mosaicism of the skin: Rudolf Happle and the lines of Alfred Blaschko. Am J Med Genet 1999; 85: 324-9.
3. 3 Tosti A, Fanti PA, Peserico A, Varotti C. Linear alopecia mucinosa along Blaschko lines. Acta Derm Venereol 1992; 72: 155-6.
4. 4 Hamm H. Cutaneous mosaicism of lethal mutations. Am J Med Genet 1999; 85: 342-5.
5. 5 Kuester W, Koenig A. Hypomelanosis of Ito: No entity, but a cutaneous sign of mosaicism. Am J Med Genet 1999; 85: 346-50.
6. 6 Moss C. Cytogenic and molecular evidence for cutaneous mosaicism: the ectodermal origin of Blaschko lines. Am J Med Genet 1999; 85: 330-3.
7. 7 Happle R. How many epidermal nevus syndromes exist? A clinicogenetic classification. J Am Acad Dermatol 1991; 24: 550-6.
8. 8 Munro CS, Wilkie AOM. Epidermal mosaicism producing localised acne: somatic mutation in FGFR2. Lancet 1998; 352: 704-5.