Indian Journal of Dermatology
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CASE REPORT
Year : 2009  |  Volume : 54  |  Issue : 5  |  Page : 27-28
Hutchinson-Gilford syndrome (progeria)


1 Department of Dermatology, Venereology, and Leprology, Grant Medical College and Sir JJ Group of Hospitals, Mumbai - 400 008, India
2 Department of Pathology, Grant Medical College and Sir JJ Group of Hospitals, Mumbai - 400 008, India

Correspondence Address:
Amar Surjushe
Department of Dermatology, Venereology, and Leprology, Grant Medical College and Sir JJ Groups of Hospitals, Mumbai - 400 008
India
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Source of Support: None, Conflict of Interest: None


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   Abstract 

Progeria is a rare, autosomal dominant, progeroid disorder. In the world literature less than 100 cases have been reported to date. We present this case because of its rarity.


Keywords: Macrocephaly, progeria, sclerodermatous changes


How to cite this article:
Surjushe A, Thakre M, Vasani R, Saple D. Hutchinson-Gilford syndrome (progeria). Indian J Dermatol 2009;54, Suppl S1:27-8

How to cite this URL:
Surjushe A, Thakre M, Vasani R, Saple D. Hutchinson-Gilford syndrome (progeria). Indian J Dermatol [serial online] 2009 [cited 2019 Oct 20];54, Suppl S1:27-8. Available from: http://www.e-ijd.org/text.asp?2009/54/5/27/45438



   Introduction Top


Progeria is a congenital disorder with autosomal dominant inheritance characterized by thin, atrophic, shiny skin with sclerodermoid changes, sparse to absent scalp hair, eyebrows and eyelashes, craniofacial disproportion, a sculpted beaked nose, short stature, pyriform thorax, thin limbs, musculoskeletal and cardiovascular manifestations. The aim of presenting this case is rarity of this hereditary disorder.


   Case History Top


A two-year-old male, only child of his parents, born of first degree consangious marriage presented with abnormally large sized head with dilated vessels over scalp since birth. His mother noticed skin lesions over abdomen since six months of age. She also gave history of decreased growth of hair over scalp. There was no history of seizures or delayed milestones. No other family members were affected with similar complaints.

Patient was a full term caesarean delivery and cried immediately after birth. On examination he was short with weight of 7kg (<3 rd centile), height of 66cm (<3 rd centile) and head circumference of 46cm. He had macrocephaly with prominent dilated veins present over scalp with sparse hair and frontal bossing, beaked nose, with sparse hair over the eyebrows, and eyelashes, and normal dentition [Figure 1]. Sclerodermoid skin changes were present over the abdomen and flanks [Figure 2]. Rest of physical examination was non contributory. Investigation revealed normal hemogram, liver and renal function tests. Skeletal survey, developmental quotient, trichogram, electrocardiogram and fundus examination were normal. Skin biopsy from abdominal plaque showed atrophic epidermis with reticular dermis and subcutis replaced by fibrocollagenous tissue suggestive of sclerodermatous changes. Computerized tomography of brain revealed prominence of temporal horn of lateral ventricles. Urinary aminoacidogram was normal. Child was diagnosed to have Progeria and parents were counselled regarding same and its prognosis.


   Discussion Top


The term progeria is derived from the Greek word geras , meaning old age. Very few cases are reported from India and 97% of patients have been Caucasians. [1],[2],[3] In 1886, Hutchinson described the first patient while in 1887, Gilford described a second patient with similar clinical findings. [4] The disease is caused due to various abnormalities of mesodermal tissue and decrease survival time of fibroblast. [5] Recently de novo mutations of laminin A (LMNA) that encodes for a major constituent of the inner membrane lamina has been reported. [6] Skin, bone, and cardiovascular tissues are the main target. Skin shows sclerodermatous changes, reduced subcutaneous fat on face and limbs, centrofacial cyanosis, macrocephaly, alopecia, "plucked-bird" appearance, easy bruising, progressive mottled hyperpigmentation, decreased sweating, nail dystrophy, onychogryphosis, koilonychia, hypoplastic nipples, keloids, delayed and abnormal dentition. [1],[7] Our patient had sclerodermatous changes with alopecia, large head and classical facial features. Skeletal abnormalities include osteolysis, osteoporosis, necrosis, dislocation, fracture, dystrophic clavicles, coxa valga, 'horse riding' stance, thinning of cranial bones, delayed closure of cranial sutures and anterior fontanelle. [8],[9] Cardiovascular involvement is in the form of extensive atheromas, myocardial fibrosis, lipofuscin deposition and strokes. [10],[11] Vascular sclerosis with multiple ischemic infarctions, cerebral atrophy, and vascular myelopathy are the CNS findings. [12] Intelligence is normal but sexual maturation is absent and sexual development is retarded. [13] The average life expectancy is 13 years, with an age range of 7-27 years. Severe extensive atheromas are a major cause of death which usually occur in the second decade. Scleroderma, Werner's syndrome,  Rothmund-Thomson syndrome More Details and anhydrotic ectodermal dysplasia should be considered in the differential diagnosis. Parents require psychological counseling. Protection from trauma can prevent bone fractures. To prevent hyperlipidaemia and atherosclerosis, diet control and sometimes medical treatment have been described but efficacy is not known.

 
   References Top

1.Badame AJ. Progeria. Arch Dermatol 1989;125:540-4.  Back to cited text no. 1  [PUBMED]  
2.Raval RC, Bhatt BN, Billiomoria F. Progeria. Indian J Dermatol Venereol Leprol 1992;58:365-96.  Back to cited text no. 2    
3.Kaur C, Fatnani S, Matravadia A. Progeria. Indian J Dermatol Venereol Leprol 2000;66:259-61.  Back to cited text no. 3    Medknow Journal
4.Hutchinson J. A case of congenital absence of hair with atrophic condition of the skin and its appendages. Lancet 1886;1:923.  Back to cited text no. 4    
5.Danes BS. Progeria: A cell culture study on aging. J Clin Invest 1971;50:2000-3.  Back to cited text no. 5  [PUBMED]  [FULLTEXT]
6.Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, ScottL, et al . Recurrent de novo point mutations in lamin: A cause Hutchinson-Gilford progeria syndrome. Nature 2003;423:293-8.  Back to cited text no. 6    
7.Fleischmajer R, Nedwich A. Progeria (Hutchinson Gilford syndrome). Arch Dermatol 1973;107:253-8.  Back to cited text no. 7  [PUBMED]  
8.Fernandez-Palazzi F, McLaren AT, Slowie DF. Report on a case of Hutchinson-Gilford progeria, with special reference to orthopedic problems. Eur J Pediatr Surg 1992;2:378-82.  Back to cited text no. 8  [PUBMED]  
9.Hamer L, Kaplan F, Fallon M. The musculoskeletal manifestations of progeria: A literature review. Orthopedics 1988;11:763-9.  Back to cited text no. 9  [PUBMED]  
10.Baker PB, Baba N, Boesel CP. Cardiovascular abnormalities in progeria: Case report and review of the literature. Arch Pathol Lab Med 1981;105:384-6.  Back to cited text no. 10  [PUBMED]  
11.Reichel W, Garcia-Bunuel R. Pathologic findings in progeria: Myocardial fibrosis and lipofuscin pigment. Am J Clin Pathol 1970;53:243-53.  Back to cited text no. 11  [PUBMED]  
12.Haustein J, Pawlas U, Cervos-Navarro J. Homologous cerebral atrophy and ischemic insults in progeria adultorum. Zentralbl Allg Pathol 1989;135:51-6.  Back to cited text no. 12    
13.DeBusk FL. The Hutchinson-Gilford progeria syndrome: Report of 4 cases and review of the literature. J Pediatr 1972;80:697-724.  Back to cited text no. 13  [PUBMED]  


    Figures

  [Figure 1], [Figure 2]

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    Abstract
    Introduction
    Case History
    Discussion
    References
    Article Figures

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