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THROUGH THE LENS
Year : 2014  |  Volume : 5  |  Issue : 5  |  Page : 68-70  

Ehlers-Danlos syndrome


Department of Dermatology, Venereology and leprosy, Dr. Prabhakar Kore Medical Hospital and Research Centre, KLE University, Belgaum, Karnataka, India

Date of Web Publication13-Nov-2014

Correspondence Address:
Dr. Farhana Tahseen Taj
#2, 2nd Cross, Veerbhadra Nagar, Belgaum - 590 016, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2229-5178.144554

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   Abstract 

Ehlers-Danlos syndrome (EDS) is a generalized disorder of one element of connective tissue manifesting clinically by fragility and hyperelasticity of the skin and joint laxity. It is a hereditary disorder, the inheritance being usually autosomal dominant with low penetrance. Autosomal recessive and X-linked recessive varieties are also known. First described by Hippocrates in 4 th century B.C., the various clinical types with variable penetrance have been described lately. The number of cases EDS reported in the literature is very meagre. With the available information only about six publications of classic EDS in siblings had been reported in Indian literature.

Keywords: Cigarette paper scarring, Gorlin′s sign, Reverse Namaskar sign


How to cite this article:
Taj FT, Sajjan VV, Singh D. Ehlers-Danlos syndrome. Indian Dermatol Online J 2014;5, Suppl S1:68-70

How to cite this URL:
Taj FT, Sajjan VV, Singh D. Ehlers-Danlos syndrome. Indian Dermatol Online J [serial online] 2014 [cited 2019 Sep 18];5, Suppl S1:68-70. Available from: http://www.idoj.in/text.asp?2014/5/5/68/144554


   Introduction Top


Ehlers-Danlos syndrome (EDS) is a heritary disorder of connective tissue characterized by fragility of skin and blood vessels, hyperextensibility of the skin and joint laxity. The diagnosis is mainly clinical. Milder variants of the classical mitis form of the EDS are common in the population and can be identified by a well-defined clinical scoring system.


   Case Report Top


A 17-year-old female born out of nonconsaguineous marriage attended the dermatology out-patient department with a history of laxity of skin and joints. A history of bruising of the skin and gaping wounds with even very trivial trauma could be easily ascertained, but no episode of a major hemorrhagic accident had ever occurred in the past. The patient was an outcome of a full term normal delivery with no neonatal or perinatal morbidity. The family history revealed no such complaints in parents and siblings.

On physical examination, the skin was soft, velvety and hyperextensible [Figure 3] but with normal recoil. Atrophic cigarette paper scars [Figure 1] were seen on forehead, cheeks, forearms, elbows, knees and both shin. Joints were hypermobile [Figure 2] with genu recurvatum of the knee and hallux valgus deformity of both great toes. Gorlin's sign and reverse Namaskar sign [Figure 4] could be elicited. There was no evidence of ecchymosis, cyanosis, digital clubbing, jaundice and lymphadenopathy. The fundus, routine blood test, urine, coagulogram, blood urea, sugar and echocardiogram were within the normal limits. X-ray of the spine and knee joints was normal except for feet which showed hallux valgus deformity. Histopathology with special stain for collagen and elastic fibers showed a decrease in collagen fibers with the relative increase in elastic fibers consistent with the diagnosis of EDS [Figure 5] and [Figure 6].
Figure 1: Cigarette paper scarring on forehead and lower limbs


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Figure 2: Hypermobile joints

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Figure 3: Hyperelastic skin and palms touching the floor

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Figure 4: Gorlin's sign and Reverse Namaskar sign

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Figure 5: Van Giesons stain for collagen fi bers under ×10 showing decrease in collagen bundles

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Figure 6: Acid Orcein Giemsa stain for elastic fibres under ×10 showing relative increase in elastic fibres

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EDS cases have been reported in previous literature. [1],[2],[3],[6],[7] It's a heterogenous group of inherited disorder of connective tissue manifesting clinically by fragility and hyperelasticity of the skin and joint laxity. It's a rare genetic disorder affecting 1:5000. The inheritance being usually autosomal dominant with low penetrance. Autosomal recessive and X-linked recessive varieties are also known. Van Meekeren [1] described hyperelastic skin and Koop described hypermobility of joints. Ehler noticed the easy bruisability of the skin whereas; Danlos noted the peculiar cigarette paper scars and pseudotumour formation of the skin. Danlos also put forth four diagnostic criteria, namely, hyperelasticity of skin [Figure 3], fragility of skin, hypermobility of joints [Figure 4] and subcutaneous molluscus pseudotumour formation. More than ten clinical types have been described based on clinical, genetic and biochemical information.

In a recent consensus in Villefranche, in 1997, the classification of EDS was reorganized into six major subtypes. The diagnostic skin signs described in EDS includes Gorlins sign [4] [Figure 4](ability to touch the tip of the nose with the tongue), Metenier sign [5] (easy eversion of upper eyelid) and atrophic "cigarette paper" scarring [Figure 1]. Molluscoid pseudotumors and spheroids may occur in EDS. These are subcutaneous nodules due to herniation of subcutaneous fatty tissue and resemble lipomas histologically. The "reverse Namaskar sign" [6] [Figure 4], a valuable diagnostic sign has been described by Premalatha in patients with EDS. Absence of ocular lesions, ecchymosis, large joint dislocations and periodontitis led us to classify our patient as EDS Type II (mitis). Treatment is highly unsatisfactory. Patients with EDS VI respond to oral ascorbic acid. We report this case because of the classical clinical signs present, which are depicted in the figures which will be helpful to diagnose the case of EDS in clinical practice.

 
   References Top

1.
Menawat AS, Panwar RB, Singh H, Kochar DK, Sulemani AA, Saksena HC. Ehlers-Danlos syndrome (a case report). J Postgrad Med 1980;26:142-4.  Back to cited text no. 1
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2.
Shah BV, Shah SP, Raval RC, Bilimoria FE. Ehlers-Danlos syndrome. Indian J Dermatol Venereol Leprol 1995;61:34-5.  Back to cited text no. 2
[PUBMED]  Medknow Journal  
3.
Das MN, Ghorpade A, Mercy P, Pandey TK, Sharma R. Ehlers Danlos syndrome in two siblings. Indian J Dermatol Venereol Leprol 2005;71:186-8.  Back to cited text no. 3
[PUBMED]  Medknow Journal  
4.
Inamadar AC, Palit A. Cutaneous signs in heritable disorders of the connective tissue. Indian J Dermatol Venereol Leprol 2004;70:253-5.  Back to cited text no. 4
[PUBMED]  Medknow Journal  
5.
Sharma Y, Sudan R, Gaur A. Post traumatic subconjunctival dislocation of lens in Ehlers-Danlos syndrome. Indian J Ophthalmol 2003;51:185-6.  Back to cited text no. 5
[PUBMED]  Medknow Journal  
6.
Premalatha S, Sarveswari KN, Lahiri K. Reverse-Namaskar: A new sign in Ehlers-Danlos syndrome: A family pedigree study of four generations. Indian J Dermatol 2010;55:86-91.  Back to cited text no. 6
[PUBMED]  Medknow Journal  
7.
Tolat SN, Athavale NV, Dhumavat DI, Chauhan PP. Ehlers-Danlos syndrome with diffuse alopecia. Indian J Dermatol Venereol Leprol 1993;59:269-70.  Back to cited text no. 7
  Medknow Journal  


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]


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