Indian Journal of Dermatology
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Year : 2013  |  Volume : 58  |  Issue : 2  |  Page : 164
Vitiligo vulgaris in a patient of progeria


Departments of Dermatology, and Ophthalmology, IMS and SUM Hospital, Bhubaneswar, Orissa, India

Date of Web Publication5-Mar-2013

Correspondence Address:
Bikash Ranjan Kar
Departments of Dermatology, and Ophthalmology, IMS and SUM Hospital, Bhubaneswar, Orissa
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0019-5154.108116

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How to cite this article:
Kar BR, Satapathy J. Vitiligo vulgaris in a patient of progeria. Indian J Dermatol 2013;58:164

How to cite this URL:
Kar BR, Satapathy J. Vitiligo vulgaris in a patient of progeria. Indian J Dermatol [serial online] 2013 [cited 2019 Jun 24];58:164. Available from: http://www.e-ijd.org/text.asp?2013/58/2/164/108116


Sir,

Progeria is a rare, autosomal dominant disorder of premature ageing. In the world literature less than 100 cases have been reported and from India very few reports are there till date. The condition has become popular after the screening of the hindi movie "Paa". We report this case because of its rarity and the association with vitiligo.

A 35-year-old male presented to the hospital with complaints of retarded growth since childhood, bilateral painless progressive diminution of vision since 8 years and depigmented patches over axillae, groin, palms and soles since one year. The child was born out of a normal delivery to a first degree-consanguineous marriage. Parents consulted doctors for his stunted growth but without any satisfactory outcome. The milestones of development were also delayed. He was experiencing dimness of vision since last 8 years which progressed gradually to such an extent that he was facing difficulties in performing his daily activities. There was no history of pain and redness in his eyes. He developed his first white patch in the left axilla 1 year back followed by involvement of the right axilla, palms, soles, groin and the perianal areas. The presternal area was the last area to be involved by the disease. He also noticed gradual loss of hair from eyebrows and scalp. He was not putting on weight inspite of a good appetite.

Physical examination revealed an extremely emaciated person whose height of 118 cms and weight of 33 kgs were low for his age. The face was bird like in appearance with shrunken eyeballs, low set ears and loss of subcutaneous fat from the face. Frontal bossing with craniofacial disproportion and slight micrognathia were also noticed. His voice was thin, shrill and piping in quality. Teeth were malaligned and carious. Nails were normal. There was scanty hair on the eyebrows. Hair in the moustache area, beard area, axillae and pubic region was not present. There was complete loss of subcutaneous tissue more evident over the extremities, which made the joints look more prominent. Chest was barrel shaped with a slightly protuberant abdomen [Figure 1]. The heart and lungs appeared normal clinically. There was no binding down of skin. External genitalia were small along with poorly developed testes and scrotal sac [Figure 2].

Depigmented macules of varying sizes were present over the axillae and palms almost bilaterally symmetrically [Figure 3]. Presternal area, perianal area and the genitalia were also involved. Koebner phenomenon was evident in the form of linear streaks of depigmentation following trauma.
Figure 1: Barrel shaped chest with protruding abdomen in progeria

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Figure 2: Poorly developed external genitalia

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Figure 3: Vitiligo patches distributed symmetrically

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Ocular examinations revealed a diminution of visual acuity to perception of light (PL) and projection of rays (PR) in both eyes. Conjunctiva and cornea were clear. Pupillary light reflex was normal. Total cataract was found in both eyes.

Laboratory investigations revealed anemia, a normal lipidogram and a random blood sugar level of 65 mg%. Routine urine examinations were within normal limits. Endocrinological examinations revealed a normal thyroid function test along with a low serum free testosterone level of 0.2 pg/dl. ECG taken was within normal limits.

Radiological examination of the lower extremities showed gross osteopenia of the long bones.

Hutchinson described the first case of progeria in 1886 and Gilford described the second case in 1887. The disease is known as Hutchinson-Gilford disease [1] since then. Very few cases are reported from India. The disease is caused due to various abnormalities of mesodermal tissue and decreased survival time of fibroblast. Recently de novo mutations of Laminin A [2] that encodes for a major constituent of the inner membrane lamina has been reported. Skin, bones and cardiovascular systems are the major targets of the disease.

The appearance of the patient gives a hint towards the diagnosis. Craniomegaly, with reduced subcutaneous fat on face and limbs are common. Barrel shaped chest, beaking of the face, scleroderma like skin changes, [3] absence or minimally developed secondary sexual characters with a relatively normal intelligence add to the diagnosis of the condition. The normal life expectancy is 7-27 years as described in literature. Death is usually secondary to cardiovascular complications and atheroembolism. [4]

The index case was 35 years old and had vitiligo vulgaris. This association with Progeria is not so far described in literature. There was no test to confirm whether it was a mere coincidence or was a real association. Vitiligo has been associated with various immunological and endocrine disorders as well as other genodermatoses like Down's syndrome. [5] There has been no clear cut explanation for the association. We report this case because of 2 unusual things, first the age of the patient. Usually they die early in the second or third decade of life secondary to atheroembolic episodes. Second is the association with vitiligo vulgaris which to the best of our knowledge is the first report. The most probable explanation for the association with vitiligo could be the process of premature ageing of mesodermal tissues that also deactivates or kills the melanocytes in the adjacent basal cell layer of the epidermis.

 
   References Top

1.Huchinson 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. 1
    
2.Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, 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. 2
[PUBMED]    
3.Surjushe A, Thakre M, Vasani R, Saple D. Hutchinson Gilford syndrome (Progeria). Ind J Dermatol 2009;54;S27-8.  Back to cited text no. 3
    
4.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. 4
[PUBMED]    
5.Barankin B, Guenther L. Dermatological manifestations of Down's syndrome. J Cutan Med Surg 2001;5:289-93.  Back to cited text no. 5
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