Focal dermal hypoplasia: Report of a family with 7 affected women in 3 generations

European Journal of Dermatology

Volumn 6, Issue 7, 1996, Pages 499-500

  Bellosta, Mario ^a   Trespiolli, Davide ^a   Ghiselli, Elena ^a   Capra, Elena ^b   Scappaticci, Susi ^b  

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

Author keywords

Focal dermal hypoplasia; Papilloma; X linked disorders

Indexed keywords

ADULT; AGED; ARTICLE; CASE REPORT; CONTROLLED STUDY; FAMILIAL DISEASE; FEMALE; GOLTZ SYNDROME; HUMAN; X CHROMOSOME LINKED DISORDER;

EID: 0029958464     PISSN: 11671122     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

1. Goltz RW, Peterson WC, Gorlin RJ. Focal dermal hypoplasia. Arch Dermatol 1962; 86: 708-17.
2. Larregue M, Duterque M. Striated osteopathy in focal dermal hypoplasia. Arch Dermatol 1975; 111: 1365.
3. Burgdorf WH, Dick GF, Soderberg HD, Goltz RW. Focal dermal hypoplasia in a father and daughter. J Am Acad Dermatol 1981; 4: 273-7.
4. Temple IK, Mac Dowall P, Baraitser M, Atherton DJ. Focal dermal hypoplasia (Goltz syndrome). J Med Genet 1990; 27: 180-7.
5. Freire-Maia N, Pinheiro M. Ectodermal dysplasia: a clinical and genetic study. New York: Alan R Liss, Inc 1984: 37-8.
6. Goltz RW, Henderson RR, Hitch JM, Ott JE. Focal dermal hypoplasia syndrome. A review of the literature and report of two cases. Arch Dermatol 1970; 101: 1-11.
7. Larregue M, Duterque M. Striated osteopathy in focal dermal hypoplasia. Arch Dermatol 1975; 111: 1365.
8. Happle R, Lenze W. Striation of bones in focal dermal hypoplasia: manifestation of functional mosaicism? Brit J Dermatol 1977; 96: 133-8.
9. Friedman PA, Rao KW, Teplin SW, Aylsworth AS. Provisional deletion mapping of the focal dermal hypoplasia (FDH) gene to Xp22.31 (abstract). Am J Hum Genet 1988; 43: A50.
10. Temple IK, Hurst JA. Hing S, Butler L, Baraitser M. De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies. J Med Genet 1990; 27: 56-8.
11. Naritomi K, Izumikawa Y, Nagataki S, Fukushima Y, Wakui K Niikawa N, Hirayama K. Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome? Am J Med Genet 1992; 43: 839-43.
12. Happle R, Daniels O, Koopman RJJ. MIDAS syndrome (microphthalmia, dermal aplasia and sclerocornea): an X-linked phenotype distinct from Goltz syndrome. Am J Med Genet 1993; 47: 710-3.
13. Mücke J, Hoepffer W, Thamm B, Theile H. MIDAS syndrome (microphthalmia, dermal aplasia and sclerocornea): an autonomous entity with linear skin defects within the spectrum of focal hypoplasias. Eur J Dermatol 1995; 5: 197-203.