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Year : 1993  |  Volume : 59  |  Issue : 5  |  Page : 269-270

Ehlers-Danlos syndrome with diffuse alopecia

SN Tolat, NV Athavale, DI Dhumavat, PP Chauhan 
 

Correspondence Address:
S N Tolat


Abstract

A case of Ehlers-Danlos syndrome in a 20 year old male involving cutaneous and skeletal systems is reported. Generalised alopecia involving scalp was an unusual and interesting feature in this case.



How to cite this article:
Tolat S N, Athavale N V, Dhumavat D I, Chauhan P P. Ehlers-Danlos syndrome with diffuse alopecia.Indian J Dermatol Venereol Leprol 1993;59:269-270


How to cite this URL:
Tolat S N, Athavale N V, Dhumavat D I, Chauhan P P. Ehlers-Danlos syndrome with diffuse alopecia. Indian J Dermatol Venereol Leprol [serial online] 1993 [cited 2020 Oct 21 ];59:269-270
Available from: https://www.ijdvl.com/text.asp?1993/59/5/269/3953


Full Text

 Introduction



The Ehlers-Danlos syndrome (EDS) is a collective group of heritable connective tissue dysplasias characterized by abnormal collagen synthesis. [1] It manifests clinically as joint hypermobility, skin hyperextensibility, poor wound healing with abnormal scarring and blood vessel fragility manifesting as easy bruising.+[2] If the collagen abnormality is more generalized systemic complications are severe. Depending on clinical, genetic and biochemical differences ten types of EDS are described. [3] Because of lack of pathognomonic laboratory tests, the diagnosis is mainly clinical.

Here we describe a case of EDS mitis with diffuse scalp alopecia.

 Case Report



A 20-year-old male labourer attended the skin OPD for gradual loss of scalp hair of 2 years duration. The hair loss started over vertex area and then gradually involved rest of the scalp to leave scalp hair sparse. There was no history of any drug intake, radiation or any other major illness. Family history for any metabolic disorder was not contributory.

On examination of the scalp, there was diffuse non-scarring type of alopecia affecting entire scalp. Hair was sparse all over body including scalp. Clinical progression and features ruled out alopecia areata as well as androgenic alopecia. On detailed examination, he had hypermobile joints and hyperextensibility of skin which could be stretched upto 3 cm [Figure 1]. He had `cigarette paper' scars over elbows and knees which he got after trauma and gives history of easy bruising after trauma. According to Beighton' s scoring system, [4] he was a case of EDS-­mitis variety; his score being 8.

Haemogram, urine, blood sugar, serum VDRL were within normal range. A punch biopsy was taken from volar skin of left forearm and from scalp. Light microscopy studies of forearm biopsy showed no collagen changes. Scalp biopsy did not reveal any pathognomonic features indicative of alopecia areata (swarm of bees appearance). [5]

 Comments



EDS is an uncommon connective tissue disorder affecting skin, joints, blood vessels leading to a spectrum of clinical features. [2] There has been no report of a hair disorder with EDS in the literature. Progression of alopecia in our patient, its clinical features and histology of the scalp helped to rule out androgenic alopecia and alopecia areata. Other disorders leading to such a diffuse hair loss (e.g., telogen effluvium, drugs, anagen effluvium) were also excluded by appropriate investigations. Perhaps this is the first case report of EDS-mitis with alopecia.

Though the pathogenesis of hair loss remains obscure, it can be postulated to be due to defects in the supporting collagen matrix of the hair papilla, a defect somewhat similar to that which leads to capillary fragility. High resolution E M and immunohistochemical characterization of collagen, that anchors the hair papilla may pinpoint the cause of such alopecia.

References

1Bronstein P, Byrs PH. Disorders of collagen metabolism. In : Metabolic control and disease (Borndy PK, Rosenberg LE, eds), WB Saunders, 1980; 1118-21.
2Grahame R, Beighton P. Physical properties of the skin in Ehlers-Danlos syndrome. Ann Rheum Dis 1969; 28 : 246-51.
3Prockop DJ, Kivirikko KI. Hereditable diseases of collagen. N Engl J Med 1984; 311 : 376-86.
4Beighton P. The Ehlers-Danlos syndrome. William Heinemann, London, 1970; 86.
5Lever WF, Lever GS. Inflammatory diseases of epidermal appendages and of cartilage. In : Histopathology of the skin (Lever WF, Lever GS, eds), 7th edn. Philadelphia: JB lippincott 1990; 223-4.

 

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