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Year : 2008  |  Volume : 74  |  Issue : 4  |  Page : 427-428

A six year-old girl with several skeletal deformities and cutaneous lesions


Department of Dermatology, Mashhad University of Medical Sciences, Mashhad, Iran

Correspondence Address:
Mahnaz Banihashemi
Ahmmad Abad Ave, Ghaem Hospital, Department of Dermatology, Mashhad University of Medical Sciences, Mashhad
Iran
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0378-6323.42891

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How to cite this article:
Banihashemi M, Yazdanpanah MJ, Pezeshkpoor F. A six year-old girl with several skeletal deformities and cutaneous lesions. Indian J Dermatol Venereol Leprol 2008;74:427-8

How to cite this URL:
Banihashemi M, Yazdanpanah MJ, Pezeshkpoor F. A six year-old girl with several skeletal deformities and cutaneous lesions. Indian J Dermatol Venereol Leprol [serial online] 2008 [cited 2019 Dec 12];74:427-8. Available from: http://www.ijdvl.com/text.asp?2008/74/4/427/42891


A six year-old girl with normal mental development presented with unilateral, atrophic patches since birth, short stature and scoliosis. There was no history of similar complaints in the family. On examination, we found multiple atrophic patches distributed along Blaschko's lines [Figure 1], yellowish soft nodules and telangiectasia on her body surface. She also had limb deformities, scoliosis, bilateral syndactyly, and absence of toes of the right foot. Her hair and nails were normal; her teeth were hypoplastic and multiple papillomas were seen on the buccal mucosa. Examination of the eyes revealed an iris coloboma and an obstructed right tear duct. Biopsy of a yellowish nodule showed a remarkably thinned dermis occupied by adipose tissue [Figure 2]. X-rays showed hypoplasia of the right ankle and right clavicle and aplasia of right fibula.


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1.Harper JI, Trembath RC. Getics and genodermatoses. In: Burns T, Breathnach S, Cox N, et al , editors. Rook's text book of dermatology. Black Well Science; 2004. p. 12,69-70.   Back to cited text no. 1    
2.Al-Guamdi K, Crawford PJ. Focal dermal hypoplasia-oral and dental findings. Int J Paediatr Dent 2003;13:121-6.   Back to cited text no. 2    
3.Riyaz N, Riyaz A, Chandran R, Rakesh SV. Focal Dermal Hypoplasia (Goltz syndrome). Indian J Dermatol Venerol Leprol 2005;71:279-81.  Back to cited text no. 3    
4.Goltz RW. Focal dermal hypoplasia syndrome: An update. Arch Dermatol 1992;128:1108-10.  Back to cited text no. 4  [PUBMED]  
5.Mianda SB, Delmaestro D, Bertoli R, Marinho T, Lucas E. Focal dermal hypoplasia with exuberant fat herniations and skeletal deformities. Pediatr Dermatol 2005;22:420-3.  Back to cited text no. 5  [PUBMED]  [FULLTEXT]


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2 Do you know this syndrome? | [Você conhece esta síndrome?]
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