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E-CORRESPONDENCE
Year : 2014  |  Volume : 59  |  Issue : 2  |  Page : 211
Hutchinson-Gilford progeria versus mandibuloacral dysplasia


Department of Oro-Dental Genetics, National Research Centre, Cairo, Egypt

Date of Web Publication21-Feb-2014

Correspondence Address:
Mennat Allah I Mehrez
Department of Oro-Dental Genetics, National Research Centre, Cairo
Egypt
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0019-5154.127698

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How to cite this article:
Mehrez MI, Mostafa MI. Hutchinson-Gilford progeria versus mandibuloacral dysplasia. Indian J Dermatol 2014;59:211

How to cite this URL:
Mehrez MI, Mostafa MI. Hutchinson-Gilford progeria versus mandibuloacral dysplasia. Indian J Dermatol [serial online] 2014 [cited 2019 Nov 12];59:211. Available from: http://www.e-ijd.org/text.asp?2014/59/2/211/127698


Sir,

In reference to the manuscript entitled, "Progeria in siblings: A rare case report" reported by Sowmiya R, et al., in the Indian J Dermatol 2011:56:581-2. [ 1] Clinically, Hutchinson-Gilford Progeria (HGP), the classical type, can be diagnosed on the spot, but at other instances certain exclusions should be done in order to clear out overlaps normally present between HGP and other laminopathies.

It was notable that the authors neglected mandibuloacral dysplasia (MAD) in their differential diagnosis, a syndrome that shares not only the underlying genetic causation but much of the manifestations mentioned in the clinical description of the probands in question. Features like short stature, bird-like facies, hair, and nail changes, crowding of teeth due to micrognathia, and normal intelligence are common between both syndromes. [2]

The fact that the siblings are the result of a consanguineous marriage suggesting an autosomal recessive inheritance, and as seen in the figures that they retained little abdominal fat at the age of 14 and 13 in addition to the persistence of their scalp hair and the absence of prominent scalp veins points towards MAD rather than HGP.

We recommend further investigations because it is our conviction that the studied cases could be an autosomal recessive MAD misdiagnosed as HGP. Chest roentograms must be done to exclude dysplasia of the clavicles. Older photographs should be supplied because in MAD the face changes to this pinched bird-like facies with age. [3] An exact diagnosis, of course, is attained through genetic analysis for LMNA and ZMPSTE24, if available, particularly targeted mutation analysis for classic HGP and sequence analysis of the coding and intronic regions for atypical HGP and MAD. [2]

 
   References Top

1.Sowmiya R, Prabhavathy D, Jayakumar S. Progeria in siblings: A rare case report. Indian J Dermatol 2011;56:581-2.  Back to cited text no. 1
[PUBMED]  Medknow Journal  
2.Gordon LB, Brown WT, Collin FS. Hutchinson-Gilford Progeria Syndrome, 2003. In: Pagon RA, Bird TD, Dolan CR, editors. Genereviews, Seattle (WA): University of Washington; 1993. Available from: genereviews™ http://www.ncbi.nlm.nih.gov/books/NBK1121/[Last accessed on 2013 Jan 15].  Back to cited text no. 2
    
3.Hennekam R, Allanson J, Krantz I. Gorlin's Syndromes of the Head and Neck. 5 th ed. New York: Oxford University Press; 2010, pp. 403-5, 447-50.  Back to cited text no. 3
    




 

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