IADVL
Indexed with PubMed and Science Citation Index (E) 
 
Users online: 1584 
     Home | Feedback | Login 
About Current Issue Archive Ahead of print Search Instructions Online Submission Subscribe What's New Contact  
  Navigate here 
  Search
 
   Next article
   Previous article 
   Table of Contents
  
 Resource links
   Similar in PUBMED
    Search Pubmed for
    Search in Google Scholar for
  Related articles
   [PDF Not available] *
   Citation Manager
   Access Statistics
   Reader Comments
   Email Alert *
   Add to My List *
* Registration required (free)  

 
  In this article
    Abstract
    Introduction
    Case Report
    Discussion
    References

 Article Access Statistics
    Viewed14963    
    Printed166    
    Emailed11    
    PDF Downloaded5    
    Comments [Add]    

Recommend this journal

 
CASE REPORT
Year : 2001  |  Volume : 67  |  Issue : 5  |  Page : 261-262

Progeria (Hutchison - Gilford syndrome) in siblings: In an autosomal recessive pattern of inheritance


Department of Skin and Sexually Transmitted Diseases, Viydyanagar Institute of Medical Sciences, (Government Medical College), Bellary- 583 104, Karnataka, India

Correspondence Address:
Department of Skin and Sexually Transmitted Diseases, Viydyanagar Institute of Medical Sciences, (Government Medical College), Bellary- 583 104, Karnataka, India

   Abstract 

Progeria is an autosomal dominant, premature aging syndrome. Six and three year old female siblings had sclcrodermatous changes over the extremities, alopecia, beaked nose, prominent veins and bird-like facies. Radiological features were consistent with features of progeria. The present case highlights rarity of progeria in siblings with a possible autosomal recessive pattern.

How to cite this article:
Raghu TY, Venkatesulu GA, Kantharaj GR, Suresh T, Veeresh V, Hanumanthappa Y. Progeria (Hutchison - Gilford syndrome) in siblings: In an autosomal recessive pattern of inheritance. Indian J Dermatol Venereol Leprol 2001;67:261-2


How to cite this URL:
Raghu TY, Venkatesulu GA, Kantharaj GR, Suresh T, Veeresh V, Hanumanthappa Y. Progeria (Hutchison - Gilford syndrome) in siblings: In an autosomal recessive pattern of inheritance. Indian J Dermatol Venereol Leprol [serial online] 2001 [cited 2019 Sep 20];67:261-2. Available from: http://www.ijdvl.com/text.asp?2001/67/5/261/11266



   Introduction Top

Progeria (Hutchison - Gilford syndrome) is a rare disorder of unknown aetiology characterized by premature aging, involving the skin, bones, heart and blood vessels. Pangeria (Werner's syndrome), dermatomyositis, acrogeria, Cockane's syndrome and Rothmund - Thomson's syndrome are to be considered as differential diagnoses.

   Case Report Top

Six and three year old female siblings born to a consanguineously married parents, presented with sclerodermatous changes over the extremities, prominent knee joints and mottled pigmentation over the trunk. Alopecia, sparse eye brows and eye lashes, beaked nose, micrognathia, prominent veins, bird - like facies [Figure - 1], retarded growth and high pitched voice were observed. Elder sibling had keloids over the right forearm, difficulty in changing the posture, dystrophic nails and clawing of fingers. Genitals were normal and there was no lymphadenopathy.
Complete haemogram, erythrocyte sedimentation rate, routine urine investigations, liver and renal function tests, blood sugar levels and electrocardiogram studies were within normal limits.
Radiological examination in the elder sibling revealed widening of the fontanalle, diastases of sutures, hypoplasia of maxillary and mandibular sinuses, obtuse mandibular angle with over crowding of teeth. Chest X-ray revealed absence of lateral one third of the clavicle and over crowding of proximal ribs [Figure - 2]. X-ray of hip joints revealed coxa valga [Figure - 3]. wherein, neck shaft angle of the femur was more than the normal of about 125 degrees.
Radiological examination of the skull in younger sibling showed widening of fontanalle, diastases of sutures and hypoplasia of maxillary sinus. Chest X-ray showed features of pyriform thorax with over crowding of proximal ribs.
The 6 - year - old elder girl had a height of 94 centimeters, which was comparable to 3 - year - old normal child and the weight of 9.5 kilograms comparable to one year - old normal child. Ophthalmic examination did not reveal any abnormalities.

   Discussion Top

Early age of onset, normal eyes and genitalia excluded pangeria. in our patients. Absence of helio­trope oedema, Gottron's papules and Gottron's sign with characteristic bird-like facies ruled out dermato­myositis. Typical hair and face involvement excluded acrogeria. Cockayne's syndrome manifests in second decade of life with photosensitivity, cataract and "Micky - Mouse" appearance with protruding ears and disproportionate extremities. Rothmund - Thomson syndrome appears between three and six months of age with photosensitivity, cataract and poikiloderma. Age of onset, characteristic skin and skeletal involvement with radiological feaures suggested progeria in the siblings.
Skin manifestations are earlier to appear followed by skeletal and cardiovascular system. However in our case cardiovascular system was normal. Long term follow-up is needed to observe the cardiovascular abnormalities in our case as the eldest sibling was only six years old. Skin and skeletal involvement without any cardiovascular abnormalities has been reported by Fleishmajer.[1] Elder sibling had keloids over the right elbow. Association of keloids in progeria is rare and has been documented earlier by Jimbow et al.[2]
Less than hundred cases of progeria have been reported in the literature.[3] Mode of transmission of progeria is usually from sporadic autosomal dominant mutation.[4] Clinically healthy parents, history of consanguineous marriage with affected siblings in the family favour autosomal recessive pattern of inheritance in our case. To the best of our knowledge only two reports[5],[6] of progeria in siblings with an autosomal recessive pattern of inheritance have been documented. The present case is being reported for the rarity of progeria in siblings with a possible autosomal recessive pattern of inheritance. Presence of keloids in one of the siblings of progeria was an additional interesting association observed. 

   References Top

1.Fleishchmer R, Nedwich A. Progeria; case report. Arch Dermatol 1973 ; 103 : 253 - 258.  Back to cited text no. 1    
2.Jimbow K, Kabayashi H, Ishii M, et al. Scar and Keloid - like lesions in progeria. An electron microscope and immuno histochemical study. Arch Dermatol 1988; 124 : 1261 - 1266.  Back to cited text no. 2    
3.Burton JL. Disorders of connective tissue. In: Textbook of Dermatology (Champion RH, Burton JL, Ebling FIG eds). 5th edn. London : Blackwell Scientific Publications, 1992; 1814 - 1815.   Back to cited text no. 3    
4.Badame Al, Review of progeria. Arch Dermatol 1989 ; 126:560-564.  Back to cited text no. 4    
5.Mostafa AH, Gabr M. Heredity in progeria with follow-up of two affected sisters. Arch Pediatr 1954 ; 71 : 163 - 172.   Back to cited text no. 5    
6.Khalifa MM. Hutchison - Gilford progeria syndrome : Report of a Lybyan family and evidence of autosomal recessive inheritance. Clin Genet 1989 ; 35 : 125 - 132.  Back to cited text no. 6    

 

Top
Print this article  Email this article
Previous article Next article

    

Online since 15th March '04
Published by Wolters Kluwer - Medknow